Janitza Montalvo-Ortiz

Early Career Tenure-track Researcher, Yale University

12 active projects

Duplicate of Discrimination and mental health

This study aims to understand the interplay between gene x environment (perceived discrimination) on mental health outcomes in diverse populations. We will evaluate sociodemographic phenotypic correlations with perceived discrimination across populations, conduct a genome-wide association and genome-wide interaction study of…

Scientific Questions Being Studied

This study aims to understand the interplay between gene x environment (perceived discrimination) on mental health outcomes in diverse populations. We will evaluate sociodemographic phenotypic correlations with perceived discrimination across populations, conduct a genome-wide association and genome-wide interaction study of mental health disorders and perceived discrimination, and integrate genomic and sociodemographic data to identify risk factors for mental health disorders in diverse populations. Underrepresented groups are widely disproportionally affected by discrimination, which can have long-lasting influences on the individual’s wellbeing and mental health. We will leverage the diversity of the All of Us cohort to focus on the study of non-European populations, which are widely underrepresented in genomics studies, to investigate the interplay between genetic risk factors and perceived discrimination in the context of mental health disorders.

Project Purpose(s)

  • Disease Focused Research (psychiatric disorders)
  • Social / Behavioral
  • Ancestry

Scientific Approaches

Datasets: All of Us participants who answered the Everyday Discrimination Scale from the COVID-19 Participant Experience (COPE) Survey and have genetic data available through the workbench.

Research Methods: genetic analysis (genome-wide association study [GWAS], polygenic risk score [PRS, phenome-wide association studies [PheWAS], PRSpheWAS, genome-wide by environment interaction studies [GWEIS]

Tools: R, Python, Hail, PHESANT package, PRSice

Anticipated Findings

A recent study in JAMA Psychiatry reported increased levels of discrimination associated with higher depressive symptoms, disproportionally affecting underrepresented Hispanic or Latino and non-Hispanic Asian groups from the All of Us cohort (PMID: 35895053). We expect to find phenotypic associations between discrimination and mental health disorders, and identify genetic factors that interact with discrimination in the context of mental health, including depression, anxiety, and substance use disorders. We expect to identify socio-demographic characteristics that are associated with the gene x discrimination interplay.

Demographic Categories of Interest

  • Race / Ethnicity
  • Age
  • Sex at Birth
  • Gender Identity
  • Sexual Orientation

Data Set Used

Controlled Tier

Research Team

Owner:

Collaborators:

  • Cameron Atighetchi - Graduate Trainee, California State University, Northridge

Discrimination and mental health

This study aims to understand the interplay between gene x environment (perceived discrimination) on mental health outcomes in diverse populations. We will evaluate sociodemographic phenotypic correlations with perceived discrimination across populations, conduct a genome-wide association and genome-wide interaction study of…

Scientific Questions Being Studied

This study aims to understand the interplay between gene x environment (perceived discrimination) on mental health outcomes in diverse populations. We will evaluate sociodemographic phenotypic correlations with perceived discrimination across populations, conduct a genome-wide association and genome-wide interaction study of mental health disorders and perceived discrimination, and integrate genomic and sociodemographic data to identify risk factors for mental health disorders in diverse populations. Underrepresented groups are widely disproportionally affected by discrimination, which can have long-lasting influences on the individual’s wellbeing and mental health. We will leverage the diversity of the All of Us cohort to focus on the study of non-European populations, which are widely underrepresented in genomics studies, to investigate the interplay between genetic risk factors and perceived discrimination in the context of mental health disorders.

Project Purpose(s)

  • Disease Focused Research (psychiatric disorders)
  • Social / Behavioral
  • Ancestry

Scientific Approaches

Datasets: All of Us participants who answered the Everyday Discrimination Scale from the COVID-19 Participant Experience (COPE) Survey and have genetic data available through the workbench.

Research Methods: genetic analysis (genome-wide association study [GWAS], polygenic risk score [PRS, phenome-wide association studies [PheWAS], PRSpheWAS, genome-wide by environment interaction studies [GWEIS]

Tools: R, Python, Hail, PHESANT package, PRSice

Anticipated Findings

A recent study in JAMA Psychiatry reported increased levels of discrimination associated with higher depressive symptoms, disproportionally affecting underrepresented Hispanic or Latino and non-Hispanic Asian groups from the All of Us cohort (PMID: 35895053). We expect to find phenotypic associations between discrimination and mental health disorders, and identify genetic factors that interact with discrimination in the context of mental health, including depression, anxiety, and substance use disorders. We expect to identify socio-demographic characteristics that are associated with the gene x discrimination interplay.

Demographic Categories of Interest

  • Race / Ethnicity
  • Age
  • Sex at Birth
  • Gender Identity
  • Sexual Orientation

Data Set Used

Controlled Tier

Research Team

Owner:

Collaborators:

  • Cameron Atighetchi - Graduate Trainee, California State University, Northridge

alcohol_consumption_gwas_v02032023

We will performed a genome-wide association study of alcohol consumption in Latin American populations.

Scientific Questions Being Studied

We will performed a genome-wide association study of alcohol consumption in Latin American populations.

Project Purpose(s)

  • Disease Focused Research (psychiatric disorders)
  • Ancestry

Scientific Approaches

We will performed a genome-wide association study of alcohol consumption in Latin America. We have been analyzing several dataset for alcohol consumption in Latin America, performing genome-wide association studies analysis using GCTA and plink.

Anticipated Findings

We would found novel loci for alcohol consumption in Latin America.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

Collaborators:

  • Jose Jaime Martinez-Magana - Research Fellow, Yale University

alcohol_consumption_gwas_v03022023

We work with the Latin American Genomic Consortium, we are currently working in expanding the Latin American representation in GWAS studies. We would like to generate new genetic associations in the Latin American population.

Scientific Questions Being Studied

We work with the Latin American Genomic Consortium, we are currently working in expanding the Latin American representation in GWAS studies.
We would like to generate new genetic associations in the Latin American population.

Project Purpose(s)

  • Disease Focused Research (Psychiatric disorders)
  • Control Set
  • Ancestry

Scientific Approaches

For this analysis we plan to perform a genome-wide association study for alcohol consumption in Latin American populations with the aim of expanding the representation of this population in genomic studies.

Anticipated Findings

We expect to identify new genomic loci associated to alcohol consumption in Latin American populations and expand our knowledge of the genetics of substance use disorder in the Latin American population.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

alcohol_consumption_lagc

We will perform a metanalysis of genome-wide association studies of alcohol consumption in Latin American populations

Scientific Questions Being Studied

We will perform a metanalysis of genome-wide association studies of alcohol consumption in Latin American populations

Project Purpose(s)

  • Disease Focused Research (psychiatric disorders)
  • Ancestry

Scientific Approaches

We will run genome-wide association study of alcohol consumption. We have access to several Latin American based cohorts, like HCHS/SOL, MxGDAR, and BHRC to perform genome-wide association analysis. We have been performing analysis using plink and GCTA. After metanalyzing the data with METASOFT.

Anticipated Findings

Find novel loci associated with alcohol consumption in Latin America.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Registered Tier

Research Team

Owner:

Test Run of Quick Demo of Plots and Analyses

Not applicable - this workspace is intended to be an introductory example of how to easily click-through analyses for new users to the All of Us Researcher Workbench with whom this Notebook will be shared. This workspace is adapted from…

Scientific Questions Being Studied

Not applicable - this workspace is intended to be an introductory example of how to easily click-through analyses for new users to the All of Us Researcher Workbench with whom this Notebook will be shared. This workspace is adapted from the demo workspace "How to Get Started with the Registered Tier Data"

Project Purpose(s)

  • Educational
  • Methods Development

Scientific Approaches

Not applicable - this workspace is intended to be an introductory example of how to easily click-through analyses for new users to the All of Us Researcher Workbench with whom this Notebook will be shared. This workspace is adapted from the demo workspace "How to Get Started with the Registered Tier Data"

Anticipated Findings

Not applicable - this workspace is intended to be an introductory example of how to easily click-through analyses for new users to the All of Us Researcher Workbench with whom this Notebook will be shared. This workspace is adapted from the demo workspace "How to Get Started with the Registered Tier Data"

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

Exploring Hypertension Data Types

Not applicable - this Workspace is intended for educational purposes at the 2022 UBR Faculty Summit to learn how to use the Researcher Workbench by analyzing a data type for hypertension.

Scientific Questions Being Studied

Not applicable - this Workspace is intended for educational purposes at the 2022 UBR Faculty Summit to learn how to use the Researcher Workbench by analyzing a data type for hypertension.

Project Purpose(s)

  • Educational

Scientific Approaches

Not applicable - this Workspace is intended for educational purposes at the 2022 UBR Faculty Summit to learn how to use the Researcher Workbench by analyzing a data type for hypertension.

Anticipated Findings

Not applicable - this Workspace is intended for educational purposes at the 2022 UBR Faculty Summit to learn how to use the Researcher Workbench by analyzing a data type for hypertension.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

Duplicate of Studies of Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Not applicable - this workspace is intended to be an example of how use the Researcher Workbench by studying participants with Autosomal Polycystic Kidney Disease (ADPKD)

Scientific Questions Being Studied

Not applicable - this workspace is intended to be an example of how use the Researcher Workbench by studying participants with Autosomal Polycystic Kidney Disease (ADPKD)

Project Purpose(s)

  • Educational

Scientific Approaches

Not applicable - this workspace is intended to be an example of how use the Researcher Workbench by studying participants with Autosomal Polycystic Kidney Disease (ADPKD)

Anticipated Findings

Not applicable - this workspace is intended to be an example of how use the Researcher Workbench by studying participants with Autosomal Polycystic Kidney Disease (ADPKD)

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Registered Tier

Research Team

Owner:

Mental Illness

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Scientific Questions Being Studied

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Project Purpose(s)

  • Educational
  • Ancestry

Scientific Approaches

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Anticipated Findings

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Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

GWAS test

Not applicable - this workspace is intended to be an introductory example of how to do a genome-wide association study on the All of Us genomic data that individuals can easily click through and understand.

Scientific Questions Being Studied

Not applicable - this workspace is intended to be an introductory example of how to do a genome-wide association study on the All of Us genomic data that individuals can easily click through and understand.

Project Purpose(s)

  • Educational

Scientific Approaches

Not applicable - this workspace is intended to be an introductory example of how to do a genome-wide association study on the All of Us genomic data that individuals can easily click through and understand.

Anticipated Findings

Not applicable - this workspace is intended to be an introductory example of how to do a genome-wide association study on the All of Us genomic data that individuals can easily click through and understand.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

GWAS test

Not applicable - this workspace is intended to be an introductory example of how to do a genome-wide association study on the All of Us genomic data that individuals can easily click through and understand.

Scientific Questions Being Studied

Not applicable - this workspace is intended to be an introductory example of how to do a genome-wide association study on the All of Us genomic data that individuals can easily click through and understand.

Project Purpose(s)

  • Educational

Scientific Approaches

Not applicable - this workspace is intended to be an introductory example of how to do a genome-wide association study on the All of Us genomic data that individuals can easily click through and understand.

Anticipated Findings

Not applicable - this workspace is intended to be an introductory example of how to do a genome-wide association study on the All of Us genomic data that individuals can easily click through and understand.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

Genomics of psychiatric-related traits in the Latinx population

This study seeks to conduct a large-scale genome-wide association study (GWAS) of psychiatric disorders in Latinx populations. Latinx cohorts have been greatly understudied in psychiatric genomic studies. Further, they have complicated population histories, with multiple waves of admixture between several…

Scientific Questions Being Studied

This study seeks to conduct a large-scale genome-wide association study (GWAS) of psychiatric disorders in Latinx populations. Latinx cohorts have been greatly understudied in psychiatric genomic studies. Further, they have complicated population histories, with multiple waves of admixture between several ancestral groups.Our aim is to identify genetic variants associated with psychiatric-related traits in Latinx populations and generate polygenic risk scores that are specific to this population. We expect to conduct the largest GWAS of different psychiatric traits in the Latinx population. This number could increase even further based on our current efforts in identifying additional Latinx cohorts by leading the newly-created Latin American Genomics Consortium, which includes the participation of over 50 investigators from 7 different Latin American countries and the US.

Project Purpose(s)

  • Disease Focused Research (Psychiatric disorders)
  • Population Health
  • Methods Development
  • Ancestry

Scientific Approaches

We will apply a newly developed GWAS method, Tractor, to account for admixture in the All of Us Latinx cohort. The Tractor framework, in development by collaborators, shows promise in correcting for fine-scale population structure at the level of haplotypes, improving long-range phase in admixed cohorts, and boosting GWAS power in case-control settings of similar sample, prevalence, and effect sizes expected for our cohort aggregations and phenotypes. We will test and optimize Tractor here for best performance in multi-way admixed Latinx cohorts in preparation to run local ancestry aware association studies in the All of Us cohort. The All of Us cohort offers a unique opportunity to test the method in a large Latinx population (n=47,580). We will also meta-analyze the All of Us cohort with additional Latinx cohorts; we expect to include ~100K individuals.

Anticipated Findings

We will identify novel genetic variants associated with psychiatric-related traits in Latinx populations. Our findings will increase our understanding of the genetic risk factors of psychiatric disorders specific to Latinx, a greatly understudied population, thus decreasing health disparities in the psychiatric field.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Registered Tier

Research Team

Owner:

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