Research Projects Directory

Research Projects Directory

10,079 active projects

This information was updated 3/29/2024

The Research Projects Directory includes information about all projects that currently exist in the Researcher Workbench to help provide transparency about how the Workbench is being used. Each project specifies whether Registered Tier or Controlled Tier data are used.

Note: Researcher Workbench users provide information about their research projects independently. Views expressed in the Research Projects Directory belong to the relevant users and do not necessarily represent those of the All of Us Research Program. Information in the Research Projects Directory is also cross-posted on AllofUs.nih.gov in compliance with the 21st Century Cures Act.

84 projects have 'nutrition' in the scientific questions being studied description
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Relative Energy Deficiency in Sports and Nutritional States

The goal of this project is to identify any how greatly (if at all) having a diagnose of an eating disorder or disordered eating patterns increases the risk of a female athlete developing symptoms of Relative Energy Deficiency in Sports…

Scientific Questions Being Studied

The goal of this project is to identify any how greatly (if at all) having a diagnose of an eating disorder or disordered eating patterns increases the risk of a female athlete developing symptoms of Relative Energy Deficiency in Sports (RED-S). I would like to compare the prevalence of RED-S signs/symptoms in two different groups: the first for women with no clinical history of low BMI (defined as <18.5 for the purpose of this study) or disordered eating patterns, and the second for women with diagnosed disordered eating patterns or a BMI greater than 18.5 during athletic participation.

Previously known as the Female Athlete Triad, RED-S is a syndrome that commonly manifests with recurrent sports injuries, changes in menstruation and loss of periods , decreases in bone density, and malnutrition signs. RED-S puts athletes at risk for infertility and other reproductive disorders, psychiatric changes, early development of osteoporosis, and detrimental injuries.

Project Purpose(s)

  • Disease Focused Research (Relative Energy Deficiency in Sports (RED-S))
  • Population Health
  • Social / Behavioral

Scientific Approaches

The first task of this is to establish two distinct groups of women.
The controls of this study include:
Women between the ages of 18-25, with history of significant RED-S clinical manifestations that onset during or within 2 years of participation in competitive
sports and/or athletic training
No history of Type 1 or Type 2 Diabetes, thyroid disorders, glycogen storage diseases or any other metabolic disorder
No history of reproductive disorders prior to participation in competitive athletics
Group 1:
Women with BMI consistently above 18.5, with NO concerns/diagnosis of eating disorders/disordered eating patterns.
Group 2:
Women with: BMI below 18.5 at any point during sports participation, AND/OR concerns/diagnosis of eating disorders/disordered eating patterns.

Anticipated Findings

The anticipated findings of this study are that group 2 will show a higher prevalence of clinically significant manifestations of RED-S.

This finding would demonstrate and emphasize the importance of proper nutritional education for female athletes to prevent serious, life-long complications of energy deficiency. These findings would hopefully be utilized by athletic trainers and collegiate athletic departments to better care for their athletes.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

  • Joslyn Dinkel - Graduate Trainee, University of Kansas Medical Center

Cardiovascular Disease

The socio-economic impact on the access to nutritional and dietary resources and risks of cardiovascular disease. This is relevant to our modern-day society as many people have a higher risk to heart disease and they suffer more due to no…

Scientific Questions Being Studied

The socio-economic impact on the access to nutritional and dietary resources and risks of cardiovascular disease. This is relevant to our modern-day society as many people have a higher risk to heart disease and they suffer more due to no access to proper care.

Project Purpose(s)

  • Disease Focused Research (cardiovascular system disease)
  • Population Health
  • Social / Behavioral

Scientific Approaches

The datasets we will be using to study in our report, will b comparing socio-economic backgrounds on the availability of healthy diets and healthcare and the effect it has on the cardiovascular disease. Comparing the two datasets to see how likely a group of more socioeconomically disadvantaged people are likely to devleop cardiovascular disease based on their nutritional factors and access to healthcare.

Anticipated Findings

Our findings will indicate if socioeconomic background in America will impact the overall risks of cardiovascular disease and will spread more awareness towards underprivelged persons and how their diets can positively shaped.

Demographic Categories of Interest

  • Geography
  • Access to Care
  • Income Level

Data Set Used

Controlled Tier

Research Team

Owner:

Collaborators:

  • Sneha Vaidyanathan - Undergraduate Student, Arizona State University

Final Bio 194 - Group 6

Socio-economic impact on the access to nutritional and dietary resources and the risks of cardiovascular disease.

Scientific Questions Being Studied

Socio-economic impact on the access to nutritional and dietary resources and the risks of cardiovascular disease.

Project Purpose(s)

  • Educational
  • Methods Development
  • Control Set

Scientific Approaches

The datasets we will be using to study in our report, will be comparing socio-economic backgrounds on the availability of healthy diets and healthcare and the effect it has on the cardiovascular disease. Comparing the two datasets to see how likely a group of more socioeconomically disadvantaged people are likely to develop cardiovascular disease based on their nutritional factors and access to healthcare.

Anticipated Findings

Our findings will indicate if socio-economic backgrounds in America will impact the overall risks of cardiovasuclar disease and will spread more awareness towards underprivileged persons and how their diets can be positively shaped.

Demographic Categories of Interest

  • Access to Care
  • Education Level
  • Income Level

Data Set Used

Registered Tier

Research Team

Owner:

Collaborators:

  • Sneha Vaidyanathan - Undergraduate Student, Arizona State University

Duplicate of Demo - Hypertension Prevalence

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical…

Scientific Questions Being Studied

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical approaches to understanding and treating hypertension may benefit from the integration of a precision medicine approach that integrates data on environments, social determinants of health, behaviors, and genomic factors that contribute to hypertension risk. Hypertension is a major public health concern and remains a leading risk factor for stroke and cardiovascular disease.
Citation for this work: Chandler, P.D., Clark, C.R., Zhou, G. et al. Hypertension prevalence in the All of Us Research Program among groups traditionally underrepresented in medical research. Sci Rep 11, 12849 (2021). https://doi.org/10.1038/s41598-021-92143-w

Project Purpose(s)

  • Other Purpose (This work is an AoU demo project. Demo projects are efforts by the AoU Research Program designed to meet the program goal of ensuring the quality and utility of the Research Hub as a resource for accelerating discovery in science and medicine. As an approved demo project, this work was reviewed and overseen by the AoU Research Program Science Committee and the AoU Data and Research Center to ensure compliance with program policy, including policies for acceptable data access and use. )

Scientific Approaches

In this cross-sectional, population-based study, we used All of Us baseline data from patient (age>18) provided information (PPI) surveys and electronic health record (EHR) blood pressure measurements and retrospectively examined the prevalence of hypertension in the EHR cohort using Systemized Nomenclature of Medicine (SNOMED codes and blood pressure medications recorded in the EHR. We used the EHR data (SNOMED codes on 2 distinct dates and at least one hypertension medication) as the primary definition, and then add subjects with elevated systolic or elevated diastolic blood pressure on measurements 2 and 3 from PPI. We extracted each participant’s detailed dates of SNOMED code for essential hypertension from the Researcher Workbench table ‘cb_search_all_events’. We calculated an age-standardized HTN prevalence according to the age distribution of the U.S. Census, using 3 groups (18-39, 40-59, ≥ 60).

Anticipated Findings

The prevalence of hypertension in the All of Us cohort is similar to that of published literature. All of Us age-adjusted HTN prevalence was 27.9% compared to 29.6% in National Health and Nutrition Examination Survey. The All of Us cohort is a growing source of diverse longitudinal data that can be utilized to study hypertension nationwide. The prevalence of hypertension varies in the United States (U.S.) by age, sex, and socioeconomic status. Hypertension can often be treated successfully with medication, and prevented or delayed with lifestyle modifications. Even with these established hypertension intervention and prevention strategies, the prevalence of hypertension continues to be at levels of public health concern. The diversity within All of Us may provide insight into factors relevant to hypertension prevention and treatments in a variety of social and geographic contexts and population strata in the U.S.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

  • Jennifer Pham - Graduate Trainee, Centers for Disease Control and Prevention (CDC)

Dup of Genomics_env_v7_Prevalence_of_carriers_of_inborn_errors_of_metabolism

Inborn errors of metabolism (IEM) are rare diseases that are often recessive. But several large cohort studies revealed metabolic individuality in healthy populations. In other words, one's unique genetic makeup affects the way our body performs metabolism and the disposition…

Scientific Questions Being Studied

Inborn errors of metabolism (IEM) are rare diseases that are often recessive. But several large cohort studies revealed metabolic individuality in healthy populations. In other words, one's unique genetic makeup affects the way our body performs metabolism and the disposition of metabolism-related diseases. Understanding the prevalence and characteristics of metabolic outliers may help us devise precision nutrition strategies that may help improve the health of these individuals. The specific question we would like to investigate in this area using the All of Us data are:
1. The frequency of pathogenic variants in the population
2. The frequency of GWAS metabolism-related variants
3. The demographic characteristics of these predicted metabolic outlier individuals

Project Purpose(s)

  • Disease Focused Research (inherited metabolic disorder)
  • Ancestry

Scientific Approaches

We will first perform some exploratory analysis to understand the data structure of the All of Us data. Then, we will prepare a list of pathogenic variants on IEM genes, as well as a list of GWAS variants on IEM genes that associate with related metabolic traits from existing databases and publications. We will evaluate the frequency of these variants in the All of Us data. The demographic characteristics of the variant carriers will be summarized. As many of these variants may be rare but with large effect sizes, we will aggregate data to the gene level instead of the variant level.

Anticipated Findings

We expect this work will give us an estimate of metabolic outlier population size and characteristics for future studies that try to implement precision nutrition.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • He Zhang - Research Fellow, University of Texas Southwestern Medical Center

Collaborators:

  • Ling Cai - Project Personnel, University of Texas Southwestern Medical Center

v7 of Prevalence of carriers of inborn errors of metabolism

Inborn errors of metabolism (IEM) are rare diseases that are often recessive. But several large cohort studies revealed metabolic individuality in healthy populations. In other words, one's unique genetic makeup affects the way our body performs metabolism and the disposition…

Scientific Questions Being Studied

Inborn errors of metabolism (IEM) are rare diseases that are often recessive. But several large cohort studies revealed metabolic individuality in healthy populations. In other words, one's unique genetic makeup affects the way our body performs metabolism and the disposition of metabolism-related diseases. Understanding the prevalence and characteristics of metabolic outliers may help us devise precision nutrition strategies that may help improve the health of these individuals. The specific question we would like to investigate in this area using the All of Us data are:
1. The frequency of pathogenic variants in the population
2. The frequency of GWAS metabolism-related variants
3. The demographic characteristics of these predicted metabolic outlier individuals

Project Purpose(s)

  • Disease Focused Research (inherited metabolic disorder)
  • Ancestry

Scientific Approaches

We will first perform some exploratory analysis to understand the data structure of the All of Us data. Then, we will prepare a list of pathogenic variants on IEM genes, as well as a list of GWAS variants on IEM genes that associate with related metabolic traits from existing databases and publications. We will evaluate the frequency of these variants in the All of Us data. The demographic characteristics of the variant carriers will be summarized. As many of these variants may be rare but with large effect sizes, we will aggregate data to the gene level instead of the variant level.

Anticipated Findings

We expect this work will give us an estimate of metabolic outlier population size and characteristics for future studies that try to implement precision nutrition.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Ling Cai - Project Personnel, University of Texas Southwestern Medical Center
  • He Zhang - Research Fellow, University of Texas Southwestern Medical Center

Comprehensive Nutrition Status Report

This project aims to investigate the concentration and prevalence of biochemical indicators of diet and nutrition in the U.S. population regarding the diversity of the United States including biological gender, races, ethnicities, age groups, geographic regions, education level and income…

Scientific Questions Being Studied

This project aims to investigate the concentration and prevalence of biochemical indicators of diet and nutrition in the U.S. population regarding the diversity of the United States including biological gender, races, ethnicities, age groups, geographic regions, education level and income level. The results of this project will provide a basis for future analyses and research on the association between biomedical indicator and health outcomes. The research question will also potentially inform and support clinicians, scientists or public health professionals with the disparity and inequity of the current nutrition status in the U.S. population.

Project Purpose(s)

  • Population Health

Scientific Approaches

The databased we will be using is that All of Us study, controlled tire. The prevalence of deficiency, insufficiency and sufficiency of each diet and nutrition related biomedical indicators will be estimated and reported as n% (95%CI). The prevalence will also be estimated by subpopulation based on biological gender, races, ethnicities, age groups, geographic regions, education level and income level. For all variables, outliers will be identified as greater or less than three times of interquartile range and biologically implausible. Outliers will be excluded from this study. For continuous variables, the medians and IQR will be reported. A p-value of 0.05 will be used to indicate statistical significance.

Anticipated Findings

These proposed analyses will allow us to have a systematic understanding of the current nutrition status in the U.S.. The results of the proposed study will provide a basis for research which perform more in-depth analyses regarding diet and nutrition related biomedical indicators using All of Us data. The subpopulation prevalence of deficiency, insufficiency and sufficiency will potentially indicate the research opportunities related to the relationship between biology, lifestyle, environment and health outcomes.

Demographic Categories of Interest

  • Race / Ethnicity
  • Age
  • Sex at Birth
  • Geography
  • Education Level
  • Income Level

Data Set Used

Controlled Tier

Research Team

Owner:

Double and triple burden of malnutrition

The specific question we intend to study is the prevalence and correlates of intraindividual double burden of malnutrition (DBM) and triple burden of malnutrition (TBM) in individuals assigned female at birth. In the US, DBM and TBM are a serious…

Scientific Questions Being Studied

The specific question we intend to study is the prevalence and correlates of intraindividual double burden of malnutrition (DBM) and triple burden of malnutrition (TBM) in individuals assigned female at birth. In the US, DBM and TBM are a serious problems. According to a 2020 literature utilizing 2006 data, authors found that the coexistence of micronutrient deficiency and overweight/obesity was 21.9% among women of reproductive age (15 - 49 year-olds). More importantly, most of the supplementary programs in the US are focusing on providing credits or foods to solve the public health problem, undernutrition. However, studies have shown that the dietary disparities persisted or worsened for most dietary components among the recipients and may worsen the health outcomes. The prevalence of overweight, obesity and diet-related noncommunicable diseases in the US is rising. There is a potential high prevalence of DBM and TBM in the US, which could cause worse outcomes.

Project Purpose(s)

  • Population Health

Scientific Approaches

The databased we will be using is that All of Us study, controlled tire. The prevalence of each undernutrition and overnutrition indicator, any single burden of malnutrition, intra-individual DBM and TBM will be estimated and reported as n% (95%CI). The potential correlates will be identified form previous screening of existing papers regarding risk factors for undernutrition, overnutrition, and DBM. For all variables, outliers will be identified as greater or less than three times of interquartile range and biologically implausible. Outliers will be excluded from this study. For continuous variables, the medians and IQR will be reported. Univariate binomial models will be used to calculate unadjusted risks ratios and 95%CI of the associations between the potential risk factors and DBM and TBM in relation to its correlates. A p-value of 0.05 will be used to indicate statistical significance.

Anticipated Findings

These proposed studies will allow us to have a deeper understanding of the dimension of the rising public health issues, DBM and TBM. We will have better insights into future interventions or programs to eliminate malnutrition in the US. Future interventions and policies may not only focus on enhancing total energy intake or protein intake to eliminate undernutrition but also pay more attention to the double burden of malnutrition which may potentially exacerbate poor health outcomes.

Demographic Categories of Interest

  • Race / Ethnicity
  • Age
  • Geography
  • Disability Status
  • Education Level
  • Income Level

Data Set Used

Controlled Tier

Research Team

Owner:

  • Naiwen Ji - Graduate Trainee, Cornell University

Collaborators:

  • Srishti Sinha - Research Fellow, Cornell University
  • Samantha Huey - Research Fellow, Cornell University
  • Sarada Ghosh - Research Fellow, Cornell University

Duplicate of Demo - Hypertension Prevalence

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical…

Scientific Questions Being Studied

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical approaches to understanding and treating hypertension may benefit from the integration of a precision medicine approach that integrates data on environments, social determinants of health, behaviors, and genomic factors that contribute to hypertension risk. Hypertension is a major public health concern and remains a leading risk factor for stroke and cardiovascular disease.
Citation for this work: Chandler, P.D., Clark, C.R., Zhou, G. et al. Hypertension prevalence in the All of Us Research Program among groups traditionally underrepresented in medical research. Sci Rep 11, 12849 (2021). https://doi.org/10.1038/s41598-021-92143-w

Project Purpose(s)

  • Other Purpose (This work is an AoU demo project. Demo projects are efforts by the AoU Research Program designed to meet the program goal of ensuring the quality and utility of the Research Hub as a resource for accelerating discovery in science and medicine. As an approved demo project, this work was reviewed and overseen by the AoU Research Program Science Committee and the AoU Data and Research Center to ensure compliance with program policy, including policies for acceptable data access and use. )

Scientific Approaches

In this cross-sectional, population-based study, we used All of Us baseline data from patient (age>18) provided information (PPI) surveys and electronic health record (EHR) blood pressure measurements and retrospectively examined the prevalence of hypertension in the EHR cohort using Systemized Nomenclature of Medicine (SNOMED codes and blood pressure medications recorded in the EHR. We used the EHR data (SNOMED codes on 2 distinct dates and at least one hypertension medication) as the primary definition, and then add subjects with elevated systolic or elevated diastolic blood pressure on measurements 2 and 3 from PPI. We extracted each participant’s detailed dates of SNOMED code for essential hypertension from the Researcher Workbench table ‘cb_search_all_events’. We calculated an age-standardized HTN prevalence according to the age distribution of the U.S. Census, using 3 groups (18-39, 40-59, ≥ 60).

Anticipated Findings

The prevalence of hypertension in the All of Us cohort is similar to that of published literature. All of Us age-adjusted HTN prevalence was 27.9% compared to 29.6% in National Health and Nutrition Examination Survey. The All of Us cohort is a growing source of diverse longitudinal data that can be utilized to study hypertension nationwide. The prevalence of hypertension varies in the United States (U.S.) by age, sex, and socioeconomic status. Hypertension can often be treated successfully with medication, and prevented or delayed with lifestyle modifications. Even with these established hypertension intervention and prevention strategies, the prevalence of hypertension continues to be at levels of public health concern. The diversity within All of Us may provide insight into factors relevant to hypertension prevention and treatments in a variety of social and geographic contexts and population strata in the U.S.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

Duplicate of Demo - Hypertension Prevalence

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical…

Scientific Questions Being Studied

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical approaches to understanding and treating hypertension may benefit from the integration of a precision medicine approach that integrates data on environments, social determinants of health, behaviors, and genomic factors that contribute to hypertension risk. Hypertension is a major public health concern and remains a leading risk factor for stroke and cardiovascular disease.
Citation for this work: Chandler, P.D., Clark, C.R., Zhou, G. et al. Hypertension prevalence in the All of Us Research Program among groups traditionally underrepresented in medical research. Sci Rep 11, 12849 (2021). https://doi.org/10.1038/s41598-021-92143-w

Project Purpose(s)

  • Ancestry
  • Other Purpose (This work is an AoU demo project. Demo projects are efforts by the AoU Research Program designed to meet the program goal of ensuring the quality and utility of the Research Hub as a resource for accelerating discovery in science and medicine. As an approved demo project, this work was reviewed and overseen by the AoU Research Program Science Committee and the AoU Data and Research Center to ensure compliance with program policy, including policies for acceptable data access and use. )

Scientific Approaches

In this cross-sectional, population-based study, we used All of Us baseline data from patient (age>18) provided information (PPI) surveys and electronic health record (EHR) blood pressure measurements and retrospectively examined the prevalence of hypertension in the EHR cohort using Systemized Nomenclature of Medicine (SNOMED codes and blood pressure medications recorded in the EHR. We used the EHR data (SNOMED codes on 2 distinct dates and at least one hypertension medication) as the primary definition, and then add subjects with elevated systolic or elevated diastolic blood pressure on measurements 2 and 3 from PPI. We extracted each participant’s detailed dates of SNOMED code for essential hypertension from the Researcher Workbench table ‘cb_search_all_events’. We calculated an age-standardized HTN prevalence according to the age distribution of the U.S. Census, using 3 groups (18-39, 40-59, ≥ 60).

Anticipated Findings

The prevalence of hypertension in the All of Us cohort is similar to that of published literature. All of Us age-adjusted HTN prevalence was 27.9% compared to 29.6% in National Health and Nutrition Examination Survey. The All of Us cohort is a growing source of diverse longitudinal data that can be utilized to study hypertension nationwide. The prevalence of hypertension varies in the United States (U.S.) by age, sex, and socioeconomic status. Hypertension can often be treated successfully with medication, and prevented or delayed with lifestyle modifications. Even with these established hypertension intervention and prevention strategies, the prevalence of hypertension continues to be at levels of public health concern. The diversity within All of Us may provide insight into factors relevant to hypertension prevention and treatments in a variety of social and geographic contexts and population strata in the U.S.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

  • Hyunyong Koh - Research Fellow, Baylor College of Medicine

Food Insecurity and HS

The aim of this study is to investigate the relationship between food insecurity and Hidradenitis Suppurativa (HS). Hidradenitis Suppurativa (HS) is a chronic inflammatory disease characterized by occlusion, inflammation, and scarring of the folliculo-pilo-sebaceous unit in intertriginous skin regions. Although…

Scientific Questions Being Studied

The aim of this study is to investigate the relationship between food insecurity and Hidradenitis Suppurativa (HS). Hidradenitis Suppurativa (HS) is a chronic inflammatory disease characterized by occlusion, inflammation, and scarring of the folliculo-pilo-sebaceous unit in intertriginous skin regions. Although there is an association between metabolic syndrome and HS, there is limited data on how nutrition and diet factors into HS disease progression. Like other inflammatory dermatologic conditions, HS is thought to be impacted by a disruption of the gut-skin axis5. Additionally, there is a large financial burden in treating HS which can worsen food insecurity. Our recent work suggested that people with skin conditions that cause wounds have a higher prevalence of food insecurity compared to the general population6. If people with HS indeed have a higher prevalence of food insecurity, healthcare providers can target this gap to improve outcomes.

Project Purpose(s)

  • Disease Focused Research (hidradenitis suppurativa)
  • Population Health

Scientific Approaches

We will utilize the All of Us database to create cohorts of those with and without HS, who have and have not completed surveys assessing for food insecurity. We will analyze the data for demographics, including age, race, ethnicity, sex, gender, income level, education level, employment, and health insurance status. Our primary focus will be to analyze epidemiological data for relevant associations in a cross-sectional design.

Anticipated Findings

The primary outcome is the prevalence of food insecurity amongst patients with HS. Secondary outcomes include comparing prevalence of food insecurity amongst patients with HS to that of the general populations as well as in another inflammatory skin condition, plaque psoriasis. We also seek to establish a relationship between food insecurity and severity of disease in HS. We hypothesize that food insecurity will be more common amongst patients with HS when compared to the general population.

Demographic Categories of Interest

  • Income Level

Data Set Used

Controlled Tier

Research Team

Owner:

  • Shivani Jain - Graduate Trainee, Louisiana State University Health Sciences Center, New Orleans
  • Ryan Dieudonné - Undergraduate Student, Emory University
  • Lauren Orenstein - Early Career Tenure-track Researcher, Emory University
  • Aditya Sood - Graduate Trainee, Emory University

Collaborators:

  • Sokol Tushe - Graduate Trainee, Emory University
  • Jonathan Gunasti - Graduate Trainee, Emory University

BenTest

Nutrition for Precision Health

Scientific Questions Being Studied

Nutrition for Precision Health

Project Purpose(s)

  • Population Health
  • Social / Behavioral

Scientific Approaches

Nutrition for Precision Health

Anticipated Findings

Nutrition for Precision Health

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

  • Benjamin Carper - Project Personnel, All of Us Researcher Academy/RTI International

Duplicate of Demo - Hypertension Prevalence

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical…

Scientific Questions Being Studied

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical approaches to understanding and treating hypertension may benefit from the integration of a precision medicine approach that integrates data on environments, social determinants of health, behaviors, and genomic factors that contribute to hypertension risk. Hypertension is a major public health concern and remains a leading risk factor for stroke and cardiovascular disease.

Project Purpose(s)

  • Other Purpose (This work is an AoU demo project. Demo projects are efforts by the AoU Research Program designed to meet the program goal of ensuring the quality and utility of the Research Hub as a resource for accelerating discovery in science and medicine. As an approved demo project, this work was reviewed and overseen by the AoU Research Program Science Committee and the AoU Data and Research Center to ensure compliance with program policy, including policies for acceptable data access and use. )

Scientific Approaches

In this cross-sectional, population-based study, we used All of Us baseline data from patient (age>18) provided information (PPI) surveys and electronic health record (EHR) blood pressure measurements and retrospectively examined the prevalence of hypertension in the EHR cohort using Systemized Nomenclature of Medicine (SNOMED codes and blood pressure medications recorded in the EHR. We used the EHR data (SNOMED codes on 2 distinct dates and at least one hypertension medication) as the primary definition, and then add subjects with elevated systolic or elevated diastolic blood pressure on measurements 2 and 3 from PPI. We extracted each participant’s detailed dates of SNOMED code for essential hypertension from the Researcher Workbench table ‘cb_search_all_events’. We calculated an age-standardized HTN prevalence according to the age distribution of the U.S. Census, using 3 groups (18-39, 40-59, ≥ 60).

Anticipated Findings

The prevalence of hypertension in the All of Us cohort is similar to that of published literature. All of Us age-adjusted HTN prevalence was 27.9% compared to 29.6% in National Health and Nutrition Examination Survey. The All of Us cohort is a growing source of diverse longitudinal data that can be utilized to study hypertension nationwide. The prevalence of hypertension varies in the United States (U.S.) by age, sex, and socioeconomic status. Hypertension can often be treated successfully with medication, and prevented or delayed with lifestyle modifications. Even with these established hypertension intervention and prevention strategies, the prevalence of hypertension continues to be at levels of public health concern. The diversity within All of Us may provide insight into factors relevant to hypertension prevention and treatments in a variety of social and geographic contexts and population strata in the U.S.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

  • Mihir Sanghvi - Research Fellow, Queen Mary University of London

Utilizing GWAS in understanding the mechanism behind kidney stone formation

According to the most recent report by the National Health and Nutrition Examination Survey (NHANES), 20% of men and 10% of women will suffer from kidney stones by the age of 70 years. The reoccurrence rate for kidney stones has…

Scientific Questions Being Studied

According to the most recent report by the National Health and Nutrition Examination Survey (NHANES), 20% of men and 10% of women will suffer from kidney stones by the age of 70 years. The reoccurrence rate for kidney stones has been estimated to be 30-40% after 5 years. Thus, there is a need for novel tools in preventing, diagnosing, and treating kidney stones.

The heritability of kidney stone formation is estimated to be around 50%. Kidney stones is also an example of a complex disorder meaning that it is not only one gene that causes the disease but the interaction of many genes.

For this study, we hypothesize that utilizing the latest bioinformatic and genetic techniques such as GWAS could help identify genetic variants and genes that play a role in the development in kidney stone formation. This would both produce a more accurate polygenic risk score (PRS) for kidney stones and identify new drug targets that can aid in prevention and diagnosis of this complex disorder.

Project Purpose(s)

  • Disease Focused Research (nephrolithiasis, urolithiasis)
  • Ancestry

Scientific Approaches

I will be using the All of Us database with the inclusion criteria of “Nephrolithiasis” and/or “Urolithiasis” with the former being the medical term for kidney stones while the later for stones in the ureter. I’ll select datasets with “Global Diversity Array” or “Short read whole genome sequencing” available on the participants. I will also be looking at datasets based on ancestral group (race) and age.
I will be doing a genome-wide association study (GWAS) on the data. Specifically, I will compare the frequency of SNPs between people with and without kidney stones.
I will be utilizing the population genomics tool PLINK to do quality control and analysis of the data. I will then utilize fine mapping tools such as PAINTOR and FINEMAP to identify causal variants from the loci, and co-localization tools to overlap GWAS loci with quantitative trait loci (QTL) for gene and protein expression, and metabolite levels in the blood and urine.

Anticipated Findings

Based on extensive literature review, I expect that genetic variants associated with kidney stones will identify genes involved in the renal handling of calcium and phosphate, as well as urate. It is possible that the discovery of new mutations that play a role in kidney stone would be discovered.

I would also like to compare the differences in genetic associations among different ancestral groups as many of them have not been accurately represented in past studies, and utilizing databases such as All of Us would address these shortcomings. Kidney stones is an example of a complex trait genetic disorder, thus tools such as GWAS in helping to develop an accurate PRS would be helpful for the patient and medical community in preventing and treating this ailment.

Demographic Categories of Interest

  • Race / Ethnicity
  • Age

Data Set Used

Controlled Tier

Research Team

Owner:

Duplicate of Demo - Hypertension Prevalence

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical…

Scientific Questions Being Studied

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical approaches to understanding and treating hypertension may benefit from the integration of a precision medicine approach that integrates data on environments, social determinants of health, behaviors, and genomic factors that contribute to hypertension risk. Hypertension is a major public health concern and remains a leading risk factor for stroke and cardiovascular disease.

Project Purpose(s)

  • Other Purpose (This work is an AoU demo project. Demo projects are efforts by the AoU Research Program designed to meet the program goal of ensuring the quality and utility of the Research Hub as a resource for accelerating discovery in science and medicine. As an approved demo project, this work was reviewed and overseen by the AoU Research Program Science Committee and the AoU Data and Research Center to ensure compliance with program policy, including policies for acceptable data access and use. )

Scientific Approaches

In this cross-sectional, population-based study, we used All of Us baseline data from patient (age>18) provided information (PPI) surveys and electronic health record (EHR) blood pressure measurements and retrospectively examined the prevalence of hypertension in the EHR cohort using Systemized Nomenclature of Medicine (SNOMED codes and blood pressure medications recorded in the EHR. We used the EHR data (SNOMED codes on 2 distinct dates and at least one hypertension medication) as the primary definition, and then add subjects with elevated systolic or elevated diastolic blood pressure on measurements 2 and 3 from PPI. We extracted each participant’s detailed dates of SNOMED code for essential hypertension from the Researcher Workbench table ‘cb_search_all_events’. We calculated an age-standardized HTN prevalence according to the age distribution of the U.S. Census, using 3 groups (18-39, 40-59, ≥ 60).

Anticipated Findings

The prevalence of hypertension in the All of Us cohort is similar to that of published literature. All of Us age-adjusted HTN prevalence was 27.9% compared to 29.6% in National Health and Nutrition Examination Survey. The All of Us cohort is a growing source of diverse longitudinal data that can be utilized to study hypertension nationwide. The prevalence of hypertension varies in the United States (U.S.) by age, sex, and socioeconomic status. Hypertension can often be treated successfully with medication, and prevented or delayed with lifestyle modifications. Even with these established hypertension intervention and prevention strategies, the prevalence of hypertension continues to be at levels of public health concern. The diversity within All of Us may provide insight into factors relevant to hypertension prevention and treatments in a variety of social and geographic contexts and population strata in the U.S.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

  • Michael Truong - Graduate Trainee, University of Texas Health Science Center, Houston

Multiple Sclerosis_PheWAS_by_Sex_Race_Ethnicity

Multiple Sclerosis is serious illness affecting the central nervous system which can cause disability and death. Currently, there is no cure for multiple sclerosis, and the genetic and environmental factors that lead to this disease are poorly understood. Elucidating the…

Scientific Questions Being Studied

Multiple Sclerosis is serious illness affecting the central nervous system which can cause disability and death. Currently, there is no cure for multiple sclerosis, and the genetic and environmental factors that lead to this disease are poorly understood. Elucidating the risk factors for MS may lead to better modes of prevention and more effective treatment options. We want to explore which factors are significantly associated with incidence of multiple sclerosis and determine whether changing lifestyle factors or nutritional supplements such as vitamin D can be helpful for disease prevention.

Project Purpose(s)

  • Disease Focused Research (multiple sclerosis (MS))
  • Ancestry

Scientific Approaches

Some previous reports indicated that MS incidence varies in different geographical locations. We will randomly sample subjects with or without multiple sclerosis in different geographical locations. We will also extract related information such as lifestyle factors, vitamin D supplement use, and demographic data. We hope to determine which geographical and lifestyle factors are associated with incidence of MS using statistical analysis and machine learning approaches. We will also explore if there are genomic variants related to occurrence of MS.

Anticipated Findings

We hope to discover which geographical factors are associated with increased incidence of multiple sclerosis. We also hope to identify lifestyle factors that can help mitigate that risk of MS disease in those regions.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Slavina Goleva - Research Fellow, National Human Genome Research Institute (NIH-NHGRI)

Collaborators:

  • Peter Sauer - Other, National Human Genome Research Institute (NIH - NHGRI)
  • Mary Davis - Early Career Tenure-track Researcher, Brigham Young University

CFcarrier

The goal of the study is to replicate whether ADAMTS genes are involved in nutritional status or BMI in general population and whether there is any race difference.

Scientific Questions Being Studied

The goal of the study is to replicate whether ADAMTS genes are involved in nutritional status or BMI in general population and whether there is any race difference.

Project Purpose(s)

  • Disease Focused Research (nutritional status or BMI)
  • Control Set
  • Ancestry

Scientific Approaches

datasets: likely all samples then break down by race
methods: genome-wide association and rare variant association tests
tools: R

Anticipated Findings

If we validate our findings of association between BMI/nutritional status and ADAMTS genes, it would provide new target or knowledge for the genetic determinants for general population.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Hua Ling - Other, Johns Hopkins University

BMI_v7

The goal of the study is to replicate whether ADAMTS genes are involved in nutritional status or BMI in general population and whether there is any race difference.

Scientific Questions Being Studied

The goal of the study is to replicate whether ADAMTS genes are involved in nutritional status or BMI in general population and whether there is any race difference.

Project Purpose(s)

  • Disease Focused Research (nutritional status or BMI)
  • Control Set
  • Ancestry

Scientific Approaches

datasets: likely all samples then break down by race
methods: genome-wide association and rare variant association tests
tools: R

Anticipated Findings

If we validate our findings of association between BMI/nutritional status and ADAMTS genes, it would provide new target or knowledge for the genetic determinants for general population.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Hua Ling - Other, Johns Hopkins University

Duplicate of Demo - Hypertension Prevalence

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical…

Scientific Questions Being Studied

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical approaches to understanding and treating hypertension may benefit from the integration of a precision medicine approach that integrates data on environments, social determinants of health, behaviors, and genomic factors that contribute to hypertension risk. Hypertension is a major public health concern and remains a leading risk factor for stroke and cardiovascular disease.

Project Purpose(s)

  • Other Purpose (This work is an AoU demo project. Demo projects are efforts by the AoU Research Program designed to meet the program goal of ensuring the quality and utility of the Research Hub as a resource for accelerating discovery in science and medicine. As an approved demo project, this work was reviewed and overseen by the AoU Research Program Science Committee and the AoU Data and Research Center to ensure compliance with program policy, including policies for acceptable data access and use. )

Scientific Approaches

In this cross-sectional, population-based study, we used All of Us baseline data from patient (age>18) provided information (PPI) surveys and electronic health record (EHR) blood pressure measurements and retrospectively examined the prevalence of hypertension in the EHR cohort using Systemized Nomenclature of Medicine (SNOMED codes and blood pressure medications recorded in the EHR. We used the EHR data (SNOMED codes on 2 distinct dates and at least one hypertension medication) as the primary definition, and then add subjects with elevated systolic or elevated diastolic blood pressure on measurements 2 and 3 from PPI. We extracted each participant’s detailed dates of SNOMED code for essential hypertension from the Researcher Workbench table ‘cb_search_all_events’. We calculated an age-standardized HTN prevalence according to the age distribution of the U.S. Census, using 3 groups (18-39, 40-59, ≥ 60).

Anticipated Findings

The prevalence of hypertension in the All of Us cohort is similar to that of published literature. All of Us age-adjusted HTN prevalence was 27.9% compared to 29.6% in National Health and Nutrition Examination Survey. The All of Us cohort is a growing source of diverse longitudinal data that can be utilized to study hypertension nationwide. The prevalence of hypertension varies in the United States (U.S.) by age, sex, and socioeconomic status. Hypertension can often be treated successfully with medication, and prevented or delayed with lifestyle modifications. Even with these established hypertension intervention and prevention strategies, the prevalence of hypertension continues to be at levels of public health concern. The diversity within All of Us may provide insight into factors relevant to hypertension prevention and treatments in a variety of social and geographic contexts and population strata in the U.S.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

Duplicate of Demo - Hypertension Prevalence

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical…

Scientific Questions Being Studied

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical approaches to understanding and treating hypertension may benefit from the integration of a precision medicine approach that integrates data on environments, social determinants of health, behaviors, and genomic factors that contribute to hypertension risk. Hypertension is a major public health concern and remains a leading risk factor for stroke and cardiovascular disease.

Project Purpose(s)

  • Other Purpose (This work is an AoU demo project. Demo projects are efforts by the AoU Research Program designed to meet the program goal of ensuring the quality and utility of the Research Hub as a resource for accelerating discovery in science and medicine. As an approved demo project, this work was reviewed and overseen by the AoU Research Program Science Committee and the AoU Data and Research Center to ensure compliance with program policy, including policies for acceptable data access and use. )

Scientific Approaches

In this cross-sectional, population-based study, we used All of Us baseline data from patient (age>18) provided information (PPI) surveys and electronic health record (EHR) blood pressure measurements and retrospectively examined the prevalence of hypertension in the EHR cohort using Systemized Nomenclature of Medicine (SNOMED codes and blood pressure medications recorded in the EHR. We used the EHR data (SNOMED codes on 2 distinct dates and at least one hypertension medication) as the primary definition, and then add subjects with elevated systolic or elevated diastolic blood pressure on measurements 2 and 3 from PPI. We extracted each participant’s detailed dates of SNOMED code for essential hypertension from the Researcher Workbench table ‘cb_search_all_events’. We calculated an age-standardized HTN prevalence according to the age distribution of the U.S. Census, using 3 groups (18-39, 40-59, ≥ 60).

Anticipated Findings

The prevalence of hypertension in the All of Us cohort is similar to that of published literature. All of Us age-adjusted HTN prevalence was 27.9% compared to 29.6% in National Health and Nutrition Examination Survey. The All of Us cohort is a growing source of diverse longitudinal data that can be utilized to study hypertension nationwide. The prevalence of hypertension varies in the United States (U.S.) by age, sex, and socioeconomic status. Hypertension can often be treated successfully with medication, and prevented or delayed with lifestyle modifications. Even with these established hypertension intervention and prevention strategies, the prevalence of hypertension continues to be at levels of public health concern. The diversity within All of Us may provide insight into factors relevant to hypertension prevention and treatments in a variety of social and geographic contexts and population strata in the U.S.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

  • Stephen Lanier - Late Career Tenured Researcher, Wayne State University

Obesity

Many studies have found a positive association between risk for glaucoma and obesity. Weight loss has been proposed to be potential preventative lifestyle modification for glaucoma, though complicated by nutritional deficiencies. This still will look at the impact of obesity…

Scientific Questions Being Studied

Many studies have found a positive association between risk for glaucoma and obesity. Weight loss has been proposed to be potential preventative lifestyle modification for glaucoma, though complicated by nutritional deficiencies. This still will look at the impact of obesity medications on glaucoma and identify potential modifiable risk factors for glaucoma and understand the impact of pharmacological agents in a population with high prevalence of glaucoma

Project Purpose(s)

  • Disease Focused Research (glaucoma)
  • Educational
  • Drug Development

Scientific Approaches

case control or cross-sectional study with multiple logistics regression analysis, obesity data set, obesity medication dataset, icd-10/icd-9 dataset

Anticipated Findings

Look at the impact of obesity medications on glaucoma and identify potential modifiable risk factors for glaucoma and understand the impact of pharmacological agents in a population with high prevalence of glaucoma

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

  • Jennifer Lee - Graduate Trainee, University of California, Los Angeles

Collaborators:

  • Ramin Talebi - Graduate Trainee, University of California, Los Angeles

Duplicate of Demo - Hypertension Prevalence

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical…

Scientific Questions Being Studied

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical approaches to understanding and treating hypertension may benefit from the integration of a precision medicine approach that integrates data on environments, social determinants of health, behaviors, and genomic factors that contribute to hypertension risk. Hypertension is a major public health concern and remains a leading risk factor for stroke and cardiovascular disease.

Project Purpose(s)

  • Other Purpose (This work is an AoU demo project. Demo projects are efforts by the AoU Research Program designed to meet the program goal of ensuring the quality and utility of the Research Hub as a resource for accelerating discovery in science and medicine. As an approved demo project, this work was reviewed and overseen by the AoU Research Program Science Committee and the AoU Data and Research Center to ensure compliance with program policy, including policies for acceptable data access and use. )

Scientific Approaches

In this cross-sectional, population-based study, we used All of Us baseline data from patient (age>18) provided information (PPI) surveys and electronic health record (EHR) blood pressure measurements and retrospectively examined the prevalence of hypertension in the EHR cohort using Systemized Nomenclature of Medicine (SNOMED codes and blood pressure medications recorded in the EHR. We used the EHR data (SNOMED codes on 2 distinct dates and at least one hypertension medication) as the primary definition, and then add subjects with elevated systolic or elevated diastolic blood pressure on measurements 2 and 3 from PPI. We extracted each participant’s detailed dates of SNOMED code for essential hypertension from the Researcher Workbench table ‘cb_search_all_events’. We calculated an age-standardized HTN prevalence according to the age distribution of the U.S. Census, using 3 groups (18-39, 40-59, ≥ 60).

Anticipated Findings

The prevalence of hypertension in the All of Us cohort is similar to that of published literature. All of Us age-adjusted HTN prevalence was 27.9% compared to 29.6% in National Health and Nutrition Examination Survey. The All of Us cohort is a growing source of diverse longitudinal data that can be utilized to study hypertension nationwide. The prevalence of hypertension varies in the United States (U.S.) by age, sex, and socioeconomic status. Hypertension can often be treated successfully with medication, and prevented or delayed with lifestyle modifications. Even with these established hypertension intervention and prevention strategies, the prevalence of hypertension continues to be at levels of public health concern. The diversity within All of Us may provide insight into factors relevant to hypertension prevention and treatments in a variety of social and geographic contexts and population strata in the U.S.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

Maternal Mortality and Nutritional Abnormalities

We are doing a systematic review research examining the role of nutritional status in increasing the risk factors for maternal complications and mortality in Non-Hispanic Black women. PICOT: What are the nutrient deficiencies & anthropometric abnormalities that contribute to maternal…

Scientific Questions Being Studied

We are doing a systematic review research examining the role of nutritional status in increasing the risk factors for maternal complications and mortality in Non-Hispanic Black women.

PICOT: What are the nutrient deficiencies & anthropometric abnormalities that contribute to maternal complications and mortality in Non-Hispanic Black women compared to White women?
metric abnormalities that contribute to maternal complications and mortality in Non-Hispanic Black women compared to White women?

Project Purpose(s)

  • Disease Focused Research (hemorrhagic disorders, cardiomyopathy and nutritional disorders in pregnancy )

Scientific Approaches

We are doing a systematic review and want to include All of Data to support our research. We are currently finalizing our PRISMA problem statement and how we will approach our findings.

Anticipated Findings

Links between prenatal and antenatal nutritional disorders and common causes of maternal mortality such as hemorrhage, cardiomyopathy and infection

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

  • Brianna Hector - Graduate Trainee, Philadelphia College of Osteopathic Medicine

Genomics_env_v7_Prevalence_of_carriers_of_inborn_errors_of_metabolism

Inborn errors of metabolism (IEM) are rare diseases that are often recessive. But several large cohort studies revealed metabolic individuality in healthy populations. In other words, one's unique genetic makeup affects the way our body performs metabolism and the disposition…

Scientific Questions Being Studied

Inborn errors of metabolism (IEM) are rare diseases that are often recessive. But several large cohort studies revealed metabolic individuality in healthy populations. In other words, one's unique genetic makeup affects the way our body performs metabolism and the disposition of metabolism-related diseases. Understanding the prevalence and characteristics of metabolic outliers may help us devise precision nutrition strategies that may help improve the health of these individuals. The specific question we would like to investigate in this area using the All of Us data are:
1. The frequency of pathogenic variants in the population
2. The frequency of GWAS metabolism-related variants
3. The demographic characteristics of these predicted metabolic outlier individuals

Project Purpose(s)

  • Disease Focused Research (inherited metabolic disorder)
  • Ancestry

Scientific Approaches

We will first perform some exploratory analysis to understand the data structure of the All of Us data. Then, we will prepare a list of pathogenic variants on IEM genes, as well as a list of GWAS variants on IEM genes that associate with related metabolic traits from existing databases and publications. We will evaluate the frequency of these variants in the All of Us data. The demographic characteristics of the variant carriers will be summarized. As many of these variants may be rare but with large effect sizes, we will aggregate data to the gene level instead of the variant level.

Anticipated Findings

We expect this work will give us an estimate of metabolic outlier population size and characteristics for future studies that try to implement precision nutrition.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Ling Cai - Project Personnel, University of Texas Southwestern Medical Center
  • He Zhang - Research Fellow, University of Texas Southwestern Medical Center

Explore Hypertension Data

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical…

Scientific Questions Being Studied

We are using the All of Us Researcher Workbench interface to answer the question, "Is hypertension prevalence in the All of Us Research Program similar to hypertension prevalence in the 2015–2016 National Health and Nutrition Examination Survey (NHANES) ?". Clinical approaches to understanding and treating hypertension may benefit from the integration of a precision medicine approach that integrates data on environments, social determinants of health, behaviors, and genomic factors that contribute to hypertension risk. Hypertension is a major public health concern and remains a leading risk factor for stroke and cardiovascular disease.

Project Purpose(s)

  • Other Purpose (This work is an AoU demo project. Demo projects are efforts by the AoU Research Program designed to meet the program goal of ensuring the quality and utility of the Research Hub as a resource for accelerating discovery in science and medicine. As an approved demo project, this work was reviewed and overseen by the AoU Research Program Science Committee and the AoU Data and Research Center to ensure compliance with program policy, including policies for acceptable data access and use. )

Scientific Approaches

In this cross-sectional, population-based study, we used All of Us baseline data from patient (age>18) provided information (PPI) surveys and electronic health record (EHR) blood pressure measurements and retrospectively examined the prevalence of hypertension in the EHR cohort using Systemized Nomenclature of Medicine (SNOMED codes and blood pressure medications recorded in the EHR. We used the EHR data (SNOMED codes on 2 distinct dates and at least one hypertension medication) as the primary definition, and then add subjects with elevated systolic or elevated diastolic blood pressure on measurements 2 and 3 from PPI. We extracted each participant’s detailed dates of SNOMED code for essential hypertension from the Researcher Workbench table ‘cb_search_all_events’. We calculated an age-standardized HTN prevalence according to the age distribution of the U.S. Census, using 3 groups (18-39, 40-59, ≥ 60).

Anticipated Findings

The prevalence of hypertension in the All of Us cohort is similar to that of published literature. All of Us age-adjusted HTN prevalence was 27.9% compared to 29.6% in National Health and Nutrition Examination Survey. The All of Us cohort is a growing source of diverse longitudinal data that can be utilized to study hypertension nationwide. The prevalence of hypertension varies in the United States (U.S.) by age, sex, and socioeconomic status. Hypertension can often be treated successfully with medication, and prevented or delayed with lifestyle modifications. Even with these established hypertension intervention and prevention strategies, the prevalence of hypertension continues to be at levels of public health concern. The diversity within All of Us may provide insight into factors relevant to hypertension prevention and treatments in a variety of social and geographic contexts and population strata in the U.S.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

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