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Despite its high heritability, the genetic underpinnings of HS remain poorly understood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To identify genetic signals associated with HS, determine genetic relationships with other diseases and investigate potential molecular genetic mechanisms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed a genome-wide association meta-analysis of six studies, totalling 4540 patients with HS and &amp;gt; 1 million control participants, and identified genetic correlations with other common diseases. We integrated the HS data with expression quantitative trait loci from 10 trait-relevant tissues, epigenomic and transcriptomic data from human scalp, differential expression data from HS lesions vs. adjacent skin and mesenchymal Hi-C chromatin looping data. To identify functional noncoding variants, we performed transcriptional reporter assays for signals near KLF5 and SOX9.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified 11 significant HS signals across 7 loci: 4 corresponded to previously reported associations, 4 represented novel signals within known loci and 3 were signals in newly implicated loci. We identified significant genetic correlations between HS and other inflammatory conditions, particularly inflammatory bowel disease, rheumatoid arthritis, type 2 diabetes mellitus and asthma. We prioritized candidate genes for the 11 signals. The risk allele at KLF5 exhibited 10-fold greater transcriptional activity than the nonrisk allele, while risk alleles at SOX9 showed significantly reduced transcriptional activity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our results provide insights into potential genetic mechanisms underlying HS and suggest potential therapeutic targets for this challenging condition.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bjd\/ljaf277","type":"journal-article","created":{"date-parts":[[2025,7,12]],"date-time":"2025-07-12T16:00:53Z","timestamp":1752336053000},"page":"948-958","source":"Crossref","is-referenced-by-count":14,"title":["Genomic loci and molecular genetic mechanisms for hidradenitis suppurativa"],"prefix":"10.1093","volume":"193","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7469-1041","authenticated-orcid":false,"given":"K Alaine","family":"Broadaway","sequence":"first","affiliation":[{"name":"Department of Genetics, University of North Carolina , Chapel Hill, NC ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8324-2803","authenticated-orcid":false,"given":"Quan","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, University of North Carolina , Chapel Hill, NC ,","place":["USA"]},{"name":"Center for Computational and Genomic Medicine, Children\u2019s Hospital of Philadelphia , Philadelphia, PA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8273-446X","authenticated-orcid":false,"given":"Sharon N","family":"Edmiston","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina , Chapel Hill, NC ,","place":["USA"]},{"name":"Lineberger Comprehensive Cancer Center, University of North Carolina , Chapel Hill, NC ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin\u00a0W","family":"Currin","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of North Carolina , Chapel Hill, NC ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9650-768X","authenticated-orcid":false,"given":"Swarooparani","family":"Vadlamudi","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of North Carolina , Chapel Hill, NC ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0398-5162","authenticated-orcid":false,"given":"Tyne W","family":"Miller-Fleming","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center , Nashville, TN ,","place":["USA"]},{"name":"Vanderbilt Genetics Institute, Vanderbilt University 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,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Melendez-Gonzalez","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina , Chapel Hill, NC ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9058-8829","authenticated-orcid":false,"given":"Helen","family":"Bui","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Howard University College of Medicine , Washington, DC ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0375-381X","authenticated-orcid":false,"given":"Franklin R","family":"Blum","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina , Chapel Hill, NC 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