Ali Torkamani

Scripps Research

2 active projects

PIEZO1_controlled

We are interested in studying the effects of PIEZO1 gene variants on human health. Other genomic datasets such as UK Biobank have suggested a link between PIEZO1 variants and varicose vein. We already know of a common PIEZO1 variant that…

Scientific Questions Being Studied

We are interested in studying the effects of PIEZO1 gene variants on human health. Other genomic datasets such as UK Biobank have suggested a link between PIEZO1 variants and varicose vein. We already know of a common PIEZO1 variant that is primarily found in individuals of African ancestry that has implications for diseases such as iron overload and malaria. We hope to examine the prevalence of varicose veins among self-identified Black/African participants in the All of Us database. Eventually, when sequencing data is available, we would like to examine the prevalence of this common PIEZO1 variant, along with other variants, in people with and without varicose vein. This initial investigation into prevalence of varicose vein among Black individuals will give us insight into whether we expect to see the presence of the common variant in the genomic dataset when it is released.

Project Purpose(s)

  • Ancestry

Scientific Approaches

We plan to use data collected on participant diagnoses to examine those who have been diagnosed with varicose vein and other venous diseases such as DVT. We will then use self-reported data on race to examine the number and proportion of individuals of each self-identified racial group who have a vein disease diagnosis. Once genetic data are available we will be able to test whether PIEZO1 variants are associated with varicose vein or vein disease.

Anticipated Findings

We anticipate, given previous small-scale studies in the literature, that people of African genetic ancestry will have lower prevalence of varicose vein compared to non-African racial groups. We expect that when genomic data are available, we will be able to examine how PIEZO1 variants affect risk of varicose vein and vein diseases.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

Collaborators:

  • Rose Hill - Research Fellow, Scripps Research
  • Jill Waalen - Mid-career Tenured Researcher, Scripps Research

PIEZO1

We are interested in studying the effects of PIEZO1 gene variants on human health. Other genomic datasets such as UK Biobank have suggested a link between PIEZO1 variants and varicose vein. We already know of a common PIEZO1 variant that…

Scientific Questions Being Studied

We are interested in studying the effects of PIEZO1 gene variants on human health. Other genomic datasets such as UK Biobank have suggested a link between PIEZO1 variants and varicose vein. We already know of a common PIEZO1 variant that is primarily found in individuals of African ancestry that has implications for diseases such as iron overload and malaria. We hope to examine the prevalence of varicose veins among self-identified Black/African participants in the All of Us database. Eventually, when sequencing data is available, we would like to examine the prevalence of this common PIEZO1 variant, along with other variants, in people with and without varicose vein. This initial investigation into prevalence of varicose vein among Black individuals will give us insight into whether we expect to see the presence of the common variant in the genomic dataset when it is released.

Project Purpose(s)

  • Ancestry

Scientific Approaches

We plan to use data collected on participant diagnoses to examine those who have been diagnosed with varicose vein and other venous diseases such as DVT. We will then use self-reported data on race to examine the number and proportion of individuals of each self-identified racial group who have a vein disease diagnosis. Once genetic data are available we will be able to test whether PIEZO1 variants are associated with varicose vein or vein disease.

Anticipated Findings

We anticipate, given previous small-scale studies in the literature, that people of African genetic ancestry will have lower prevalence of varicose vein compared to non-African racial groups. We expect that when genomic data are available, we will be able to examine how PIEZO1 variants affect risk of varicose vein and vein diseases.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Registered Tier

Research Team

Owner:

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