# Using whole-exome sequencing to uncover key genetic variants related to Hidradenitis Suppurativa risk in African American and Hispanic population.

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2024 · $228,000

## Abstract

Project Summary
 Hidradenitis suppurativa (HS) is a chronic, debilitating, inflammatory skin condition
characterized by painful abscesses and lesions in the intertriginous areas. HS affects all races;
however, racial disparities exist with increased prevalence, severity, delay in diagnosis, and
dermatologic care in Black/African American and Hispanic/Latino HS patients compared to White
counterparts. Despite these differences, contributing factors to these disparities in HS remain
understudied. Although multiple studies have established the genetic components of HS, only
one large-scale genetic study on HS susceptibility has been published. Our main hypothesis is
that novel and rare coding-sequence variants missing in the current GWAS studies contribute to
the differences in HS risk seen among Black/African American and Hispanics/Latino patients.
Focusing on coding sequence variants is important since many disease-predisposing SNPs
reside in the exome. Using whole-exome sequencing (WES) to comprehensively assess the
associations of rare and common coding variants with HS, we will leverage data from our unique
cohorts and other existing genetic resources including the All of Us and UK biobank data to
evaluate our hypothesis through the following specific aims. In Aim 1 we will perform WES family
and case-control analyses to Identify specific coding sequence variants associated with HS in
different racial/ethnic groups (Black/AA, Hispanic/Latino, and White individuals). In Aim 2, we will
study the impact of HS-associated coding-sequence variants on cellular biology by performing
bioinformatics and multi-omics analyses with gain- and/or loss-of-function of candidate genes with
variants. Insights into the novel and rare coding sequence variations associated with HS risk and
knowledge of racial disparities in HS genetic risk will be gained through the successful completion
of this proposal, which may lead to the development of new HS therapeutics.

## Key facts

- **NIH application ID:** 10939804
- **Project number:** 3R01AR078688-03S2
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Wilson Liao
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $228,000
- **Award type:** 3
- **Project period:** 2021-07-16 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10939804

## Citation

> US National Institutes of Health, RePORTER application 10939804, Using whole-exome sequencing to uncover key genetic variants related to Hidradenitis Suppurativa risk in African American and Hispanic population. (3R01AR078688-03S2). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10939804. Licensed CC0.

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