A genome-wide association study of hidradenitis suppurativa from the VA's Million Veteran Program

Data from family and twin studies as well as prior genome-wide association meta-analyses suggest that hidradenitis suppurativa (HS) has a hereditary component.

Identify genetic variants associated with HS.

A case-control genome-wide association study (GWAS) was performed on participants with a diagnosis of HS defined as at least one instance of ICD9 705.83 or ICD10 L73.2 from participants in the VA's Million Veteran Program.

4,959 participants with HS were identified among 597,819 MVP participants. The multi-population GWAS identified two significant loci associated with HS, including a novel HS-related variant on chromosome 6 near HLA-DRB1 (lead variant rs679242), and confirmed a previously identified locus on chromosome 17 near SOX9 (rs55811634). The following previously identified loci achieved suggestive evidence for association (p<1×10^-3): rs17090189 (near KLF5), rs121908120 (2q35), rs10816701 (9q31.3), rs17090189 (13q22.1), and rs17103088 (14q24.3).

The analysis of the MVP resource for HS identified a novel signal on chromosome 6 near HLA-DRB1, and identified significant evidence and suggestive evidence for several previously reported signals for HS.