medRxiv : the preprint server for health sciences · 2025
A genome-wide association study of hidradenitis suppurativa from the VA's Million Veteran Program.
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Wendland Zachary, Teerlink Craig C, Pridgen Kathryn M, Lo Sydney, Sayed Christopher, Van Straalen K R, Tcheandjieu Catherine, Tsao Philip S, Chang Kyong-Mi, Li Yun, Mohlke Karen L, Sun Quan, Lynch Julie A, Goldfarb Noah
Аннотация
BACKGROUND: Data from family and twin studies as well as prior genome-wide association meta-analyses suggest that hidradenitis suppurativa (HS) has a hereditary component.
OBJECTIVE: Identify genetic variants associated with HS.
METHODS: 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.
RESULTS: 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).
CONCLUSION: 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.
OBJECTIVE: Identify genetic variants associated with HS.
METHODS: 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.
RESULTS: 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).
CONCLUSION: 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.