# Identification of genetic loci and pathways underlying hidradenitis suppurativa risk

> **NIH NIH R21** · MASSACHUSETTS GENERAL HOSPITAL · 2020 · $203,401

## Abstract

ABSTRACT
 Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease primarily affecting apocrine gland-rich
areas of the body and presenting with painful nodules, abscesses, sinus tracts, and scarring. HS is a
multifactorial disease in which genetic and environmental factors play a key role. Genetic has been strongly
implicated in HS risk, with 30%–40% of patients reporting a family history of HS, but the genetic architecture of
HS is poorly defined. Furthermore, genome wide association studies (GWAS), an established approach for
elucidating genetic etiology of complex disease, have never been conducted in patients with HS. This project
will utilize well-established cohorts of existing clinical and genotyped data from two institutional sources to
identify and validate HS susceptibility loci. These include the large, well-characterized, community-based
Genetic Epidemiology Research in Adult Health and Aging (GERA) cohort in Kaiser Permanente Northern
California (n=102,854), and the comprehensive, tertiary-care based Partners Healthcare Biobank cohort
(n=104,008). Using a GWAS approach, we will identify and validate HS susceptibility loci in two independent
cohorts and examine gene-environment interactions by assessing modifications in genetic risk with smoking
and body mass index. We will then perform a meta-analysis combining GERA, Partners Biobank and UK
Biobank cohort data (n~500,000) and validate all identified HS loci using summary statistics provided by the
23andMe cohort. Finally, we will examine the functional role of our identified SNPs by performing
comprehensive functional annotation and pathway analysis to identify molecular signaling pathways involved in
HS pathogenesis. The overall scientific objective of this proposal is to identify and validate HS
susceptibility loci, examine gene-environment interactions, and gain insight into the molecular
pathway involved in its pathogenesis with the long-term goal of uncovering putative new therapeutic
targets. By focusing on the genetic etiology of HS, this proposal is highly responsive to the NIAMS Funding
Announcement Opportunity PA-18-718 specifically addressing genetic susceptibility studies as a defined area
of interest, and entitled: Accelerating Basic and Translational Research in Hidradenitis Suppurativa. Our
approach is innovative because it proposes a GWAS, which has not previously been performed for this
understudied disorder and proposes to study gene-environmental interactions. Our findings will not only yield
valuable information on the genetics of HS susceptibility, but also will serve as a publicly accessible resource
for the scientific community. The proposed research is significant because it will provide a comprehensive
picture of HS genetic risk and will pave the way for new diagnostic and therapeutic opportunities. This high-
impact proposal seeks to identify mechanisms underlying increased inherited HS susceptibility to improve our
understanding of HS pathogene...

## Key facts

- **NIH application ID:** 9976890
- **Project number:** 1R21AR076009-01A1
- **Recipient organization:** MASSACHUSETTS GENERAL HOSPITAL
- **Principal Investigator:** MARYAM Mandana ASGARI
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $203,401
- **Award type:** 1
- **Project period:** 2020-09-08 → 2022-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9976890

## Citation

> US National Institutes of Health, RePORTER application 9976890, Identification of genetic loci and pathways underlying hidradenitis suppurativa risk (1R21AR076009-01A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9976890. Licensed CC0.

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