{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T12:12:39Z","timestamp":1792757559602,"version":"4.5.0"},"reference-count":68,"publisher":"American Medical Association (AMA)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Dermatol"],"published-print":{"date-parts":[[2023,9,1]]},"abstract":"\n Importance<\/jats:title>\n Hidradenitis suppurativa (HS) is a common and severely morbid chronic inflammatory skin disease that is reported to be highly heritable. However, the genetic understanding of HS is insufficient, and limited genome-wide association studies (GWASs) have been performed for HS, which have not identified significant risk loci.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n To identify genetic variants associated with HS and to shed light on the underlying genes and genetic mechanisms.<\/jats:p>\n <\/jats:sec>\n \n Design, Setting, and Participants<\/jats:title>\n This genetic association study recruited 753 patients with HS in the HS Program for Research and Care Excellence (HS ProCARE) at the University of North Carolina Department of Dermatology from August 2018 to July 2021. A GWAS was performed for 720 patients (after quality control) with controls from the Add Health study and then meta-analyzed with 2 large biobanks, UK Biobank (247 cases) and FinnGen (673 cases). Variants at 3 loci were tested for replication in the BioVU biobank (290 cases). Data analysis was performed from September 2021 to December 2022.<\/jats:p>\n <\/jats:sec>\n \n Main Outcomes and Measures<\/jats:title>\n \n Main outcome measures are loci identified, with association of\n P<\/jats:italic>\n \u2009&amp;lt;\u20091\u2009\u00d7\u200910\n \u22128<\/jats:sup>\n considered significant.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A total of 753 patients were recruited, with 720 included in the analysis. Mean (SD) age at symptom onset was 20.3 (10.57) years and at enrollment was 35.3 (13.52) years; 360 (50.0%) patients were Black, and 575 (79.7%) were female. In a meta-analysis of the 4 studies, 2 HS-associated loci were identified and replicated, with lead variants rs10512572 (\n P<\/jats:italic>\n \u2009=\u20092.3\u2009\u00d7\u200910\n \u221211<\/jats:sup>\n ) and rs17090189 (\n P<\/jats:italic>\n \u2009=\u20092.1\u2009\u00d7\u200910\n \u22128<\/jats:sup>\n ) near the\n SOX9<\/jats:italic>\n and\n KLF5<\/jats:italic>\n genes, respectively. Variants at these loci are located in enhancer regulatory elements detected in skin tissue.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions and Relevance<\/jats:title>\n \n In this genetic association study, common variants associated with HS located near the\n SOX9<\/jats:italic>\n and\n KLF5<\/jats:italic>\n genes were associated with risk of HS. These or other nearby genes may be associated with genetic risk of disease and the development of clinical features, such as cysts, comedones, and inflammatory tunnels, that are unique to HS. New insights into disease pathogenesis related to these genes may help predict disease progression and novel treatment approaches in the future.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1001\/jamadermatol.2023.2217","type":"journal-article","created":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T13:36:12Z","timestamp":1690378572000},"page":"930","source":"Crossref","is-referenced-by-count":71,"title":["Genetic Variants Associated With Hidradenitis Suppurativa"],"prefix":"10.1001","volume":"159","author":[{"given":"Quan","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Biostatistics, University of North Carolina at Chapel Hill"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. Alaine","family":"Broadaway","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of North Carolina at Chapel Hill"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon N.","family":"Edmiston","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina at Chapel Hill School of Medicine"},{"name":"Lineberger Comprehensive Cancer Center, Chapel Hill, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen","family":"Fajgenbaum","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina at Chapel Hill School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyne","family":"Miller-Fleming","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linnea Lackstrom","family":"Westerkam","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina at Chapel Hill School of Medicine"},{"name":"University of North Carolina at Chapel Hill School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Melendez-Gonzalez","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina at Chapel Hill School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Bui","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of North Carolina at Chapel Hill School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franklin R.","family":"Blum","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brandt","family":"Levitt","sequence":"additional","affiliation":[{"name":"Carolina Population Center, University of North Carolina at Chapel Hill"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lan","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina at Chapel Hill School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Honglin","family":"Hao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina at Chapel Hill School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen Mullan","family":"Harris","sequence":"additional","affiliation":[{"name":"Carolina Population Center, University of North Carolina at Chapel Hill"},{"name":"Sociology Department, University of North Carolina at Chapel Hill"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina at Chapel Hill School of Medicine"},{"name":"Lineberger Comprehensive Cancer Center, Chapel Hill, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy E.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina at Chapel Hill School of Medicine"},{"name":"Carolina Population Center, University of North Carolina at Chapel Hill"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy J.","family":"Cox","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, University of North Carolina at Chapel Hill"},{"name":"Department of Genetics, University of North Carolina at Chapel Hill"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen L.","family":"Mohlke","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of North Carolina at Chapel Hill"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J.","family":"Sayed","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of North Carolina at Chapel Hill School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"issue":"1","key":"doi230028r1","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1016\/j.jaad.2019.02.067","article-title":"North American clinical management guidelines for hidradenitis suppurativa: a publication from the United States and Canadian Hidradenitis Suppurativa Foundations: part I: diagnosis, evaluation, and the use of complementary and procedural management.","volume":"81","author":"Alikhan","year":"2019","journal-title":"J Am Acad Dermatol"},{"issue":"12","key":"doi230028r2","doi-asserted-by":"publisher","first-page":"1359","DOI":"10.1001\/jamadermatol.2020.3630","article-title":"Contribution of genetics to the susceptibility to hidradenitis suppurativa in a large, cross-sectional Dutch twin cohort.","volume":"156","author":"van Straalen","year":"2020","journal-title":"JAMA Dermatol"},{"issue":"1","key":"doi230028r3","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1111\/bjd.20654","article-title":"Evidence of gene-gene interaction in hidradenitis suppurativa: a nationwide registry study of Danish twins.","volume":"186","author":"Kjaersgaard Andersen","year":"2022","journal-title":"Br J Dermatol"},{"issue":"5","key":"doi230028r4","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1136\/jmg.22.5.367","article-title":"A family study of hidradenitis suppurativa.","volume":"22","author":"Fitzsimmons","year":"1985","journal-title":"J Med Genet"},{"issue":"5","key":"doi230028r5","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1046\/j.1365-2133.2000.03476.x","article-title":"The clinical genetics of hidradenitis suppurativa revisited.","volume":"142","author":"Von Der Werth","year":"2000","journal-title":"Br J Dermatol"},{"issue":"10","key":"doi230028r6","doi-asserted-by":"publisher","first-page":"2459","DOI":"10.1038\/jid.2012.162","article-title":"Mutations in the ?-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).","volume":"132","author":"Pink","year":"2012","journal-title":"J Invest Dermatol"},{"issue":"4","key":"doi230028r7","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1111\/bjd.v184.4","article-title":"Assessment of familial risk in patients with hidradenitis suppurativa.","volume":"184","author":"Bruinsma","year":"2021","journal-title":"Br J Dermatol"},{"issue":"4","key":"doi230028r8","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1111\/bjd.15441","article-title":"A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa.","volume":"177","author":"Frew","year":"2017","journal-title":"Br J Dermatol"},{"issue":"10","key":"doi230028r9","doi-asserted-by":"publisher","first-page":"1371","DOI":"10.3390\/biom12101371","article-title":"Transcriptome meta-analysis confirms the hidradenitis suppurativa pathogenic triad: upregulated inflammation, altered epithelial organization, and dysregulated metabolic signaling.","volume":"12","author":"de Oliveira","year":"2022","journal-title":"Biomolecules"},{"issue":"12","key":"doi230028r10","doi-asserted-by":"publisher","first-page":"2488","DOI":"10.1111\/jdv.v36.12","article-title":"Stress signalling and STAT1 activation characterize the keratinocytic gene expression pattern in Hidradenitis suppurativa.","volume":"36","author":"Frings","year":"2022","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"19","key":"doi230028r11","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.139930","article-title":"Contribution of plasma cells and B cells to hidradenitis suppurativa pathogenesis.","volume":"5","author":"Gudjonsson","year":"2020","journal-title":"JCI Insight"},{"issue":"10","key":"doi230028r12","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1007\/s00011-020-01381-7","article-title":"Transcriptomic analysis of hidradenitis suppurativa skin suggests roles for multiple inflammatory pathways in disease pathogenesis.","volume":"69","author":"Rumberger","year":"2020","journal-title":"Inflamm Res"},{"issue":"5","key":"doi230028r13","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1111\/exd.v29.5","article-title":"Beyond antibodies: B cells in hidradenitis suppurativa: bystanders, contributors or therapeutic targets?","volume":"29","author":"Frew","year":"2020","journal-title":"Exp Dermatol"},{"issue":"4","key":"doi230028r14","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1111\/jdv.v34.4","article-title":"Alterations in innate immunity and epithelial cell differentiation are the molecular pillars of hidradenitis suppurativa.","volume":"34","author":"Zouboulis","year":"2020","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"9","key":"doi230028r15","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0203672","article-title":"Integrating the skin and blood transcriptomes and serum proteome in hidradenitis suppurativa reveals complement dysregulation and a plasma cell signature.","volume":"13","author":"Hoffman","year":"2018","journal-title":"PLoS One"},{"issue":"3","key":"doi230028r16","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1111\/bjd.16019","article-title":"Interleukin-36 in hidradenitis suppurativa: evidence for a distinctive proinflammatory role and a key factor in the development of an inflammatory loop.","volume":"178","author":"Hessam","year":"2018","journal-title":"Br J Dermatol"},{"issue":"16","key":"doi230028r17","doi-asserted-by":"publisher","first-page":"9057","DOI":"10.3390\/ijms23169057","article-title":"Phytotherapeuthics affecting the IL-1\/IL-17\/G-CSF axis: a complementary treatment option for hidradenitis suppurativa?","volume":"23","author":"Witte","year":"2022","journal-title":"Int J Mol Sci"},{"issue":"4","key":"doi230028r18","doi-asserted-by":"publisher","first-page":"964","DOI":"10.1016\/j.jid.2018.10.020","article-title":"Apocrine gland-rich skin has a non-inflammatory IL-17-related immune milieu, that turns to inflammatory IL-17-mediated disease in hidradenitis suppurativa.","volume":"139","author":"Jenei","year":"2019","journal-title":"J Invest Dermatol"},{"issue":"5","key":"doi230028r19","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1001\/jamadermatol.2018.0141","article-title":"Association of hidradenitis suppurativa with T helper 1\/T helper 17 phenotypes: a semantic map analysis.","volume":"154","author":"Thomi","year":"2018","journal-title":"JAMA Dermatol"},{"issue":"2","key":"doi230028r20","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1111\/bjd.16561","article-title":"T helper 17 cell\/regulatory T-cell imbalance in hidradenitis suppurativa\/acne inversa: the link to hair follicle dissection, obesity, smoking and autoimmune comorbidities.","volume":"179","author":"Melnik","year":"2018","journal-title":"Br J Dermatol"},{"issue":"4","key":"doi230028r21","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1016\/j.jaad.2016.10.042","article-title":"Increased interleukin (IL)-17 serum levels in patients with hidradenitis suppurativa: implications for treatment with anti-IL-17 agents.","volume":"76","author":"Matusiak","year":"2017","journal-title":"J Am Acad Dermatol"},{"issue":"9","key":"doi230028r22","doi-asserted-by":"publisher","first-page":"1768","DOI":"10.1016\/j.jid.2016.04.036","article-title":"Intrinsic defect in keratinocyte function leads to inflammation in hidradenitis suppurativa.","volume":"136","author":"Hotz","year":"2016","journal-title":"J Invest Dermatol"},{"issue":"3","key":"doi230028r23","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1111\/bjd.14214","article-title":"Keratinocytes and neutrophils are important sources of proinflammatory molecules in hidradenitis suppurativa.","volume":"174","author":"Lima","year":"2016","journal-title":"Br J Dermatol"},{"issue":"6","key":"doi230028r24","doi-asserted-by":"publisher","first-page":"2213","DOI":"10.1016\/j.jaci.2020.12.651","article-title":"Epithelialized tunnels are a source of inflammation in hidradenitis suppurativa.","volume":"147","author":"Navrazhina","year":"2021","journal-title":"J Allergy Clin Immunol"},{"issue":"5","key":"doi230028r25","doi-asserted-by":"publisher","first-page":"1415","DOI":"10.1093\/ije\/dyz115","article-title":"Cohort profile: the National Longitudinal Study of Adolescent to Adult Health (Add Health).","volume":"48","author":"Harris","year":"2019","journal-title":"Int J Epidemiol"},{"issue":"6","key":"doi230028r26","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1375\/twin.9.6.988","article-title":"The National Longitudinal Study of Adolescent Health (Add Health) twin data.","volume":"9","author":"Harris","year":"2006","journal-title":"Twin Res Hum Genet"},{"issue":"7726","key":"doi230028r28","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","article-title":"The UK Biobank resource with deep phenotyping and genomic data.","volume":"562","author":"Bycroft","year":"2018","journal-title":"Nature"},{"issue":"3","key":"doi230028r29","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1038\/clpt.2008.89","article-title":"Development of a large-scale de-identified DNA biobank to enable personalized medicine.","volume":"84","author":"Roden","year":"2008","journal-title":"Clin Pharmacol Ther"},{"issue":"11","key":"doi230028r30","doi-asserted-by":"publisher","first-page":"1986","DOI":"10.1016\/j.ajhg.2022.09.009","article-title":"MagicalRsq: machine-learning-based genotype imputation quality calibration.","volume":"109","author":"Sun","year":"2022","journal-title":"Am J Hum Genet"},{"issue":"2","key":"doi230028r31","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2022.100090","article-title":"Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients.","volume":"3","author":"Sun","year":"2022","journal-title":"HGG Adv"},{"issue":"7","key":"doi230028r32","doi-asserted-by":"publisher","first-page":"1049","DOI":"10.3390\/genes12071049","article-title":"Transcriptome-wide association study of blood cell traits in African ancestry and Hispanic\/Latino populations.","volume":"12","author":"Wen","year":"2021","journal-title":"Genes (Basel)"},{"issue":"11","key":"doi230028r33","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1038\/ng.3679","article-title":"Reference-based phasing using the Haplotype Reference Consortium panel.","volume":"48","author":"Loh","year":"2016","journal-title":"Nat Genet"},{"issue":"10","key":"doi230028r34","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1038\/ng.3656","article-title":"Next-generation genotype imputation service and methods.","volume":"48","author":"Das","year":"2016","journal-title":"Nat Genet"},{"issue":"4","key":"doi230028r35","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1038\/ng.548","article-title":"Variance component model to account for sample structure in genome-wide association studies.","volume":"42","author":"Kang","year":"2010","journal-title":"Nat Genet"},{"issue":"2","key":"doi230028r36","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1038\/s10038-021-00968-0","article-title":"Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.","volume":"67","author":"Sun","year":"2022","journal-title":"J Hum Genet"},{"issue":"1","key":"doi230028r37","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/s11689-022-09429-x","article-title":"Innovative computational approaches shed light on genetic mechanisms underlying cognitive impairment among children born extremely preterm.","volume":"14","author":"Liu","year":"2022","journal-title":"J Neurodev Disord"},{"issue":"7","key":"doi230028r38","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1038\/s41588-021-00870-7","article-title":"Computationally efficient whole-genome regression for quantitative and binary traits.","volume":"53","author":"Mbatchou","year":"2021","journal-title":"Nat Genet"},{"issue":"7944","key":"doi230028r39","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1038\/s41586-022-05473-8","article-title":"FinnGen provides genetic insights from a well-phenotyped isolated population.","volume":"613","author":"Kurki","year":"2023","journal-title":"Nature"},{"issue":"17","key":"doi230028r40","doi-asserted-by":"publisher","first-page":"2190","DOI":"10.1093\/bioinformatics\/btq340","article-title":"METAL: fast and efficient meta-analysis of genomewide association scans.","volume":"26","author":"Willer","year":"2010","journal-title":"Bioinformatics"},{"issue":"6","key":"doi230028r41","doi-asserted-by":"publisher","first-page":"1175","DOI":"10.1016\/j.ajhg.2022.04.006","article-title":"TOP-LD: a tool to explore linkage disequilibrium with TOPMed whole-genome sequence data.","volume":"109","author":"Huang","year":"2022","journal-title":"Am J Hum Genet"},{"issue":"6","key":"doi230028r42","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1101\/gr.229102","article-title":"The human genome browser at UCSC.","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res"},{"issue":"7414","key":"doi230028r43","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome.","volume":"489","author":"Consortium","year":"2012","journal-title":"Nature"},{"issue":"D1","key":"doi230028r44","doi-asserted-by":"publisher","first-page":"D882","DOI":"10.1093\/nar\/gkz1062","article-title":"New developments on the Encyclopedia of DNA Elements (ENCODE) data portal.","volume":"48","author":"Luo","year":"2020","journal-title":"Nucleic Acids Res"},{"issue":"7818","key":"doi230028r45","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1038\/s41586-020-2493-4","article-title":"Expanded encyclopaedias of DNA elements in the human and mouse genomes.","volume":"583","author":"Moore","year":"2020","journal-title":"Nature"},{"issue":"6509","key":"doi230028r46","doi-asserted-by":"publisher","first-page":"1318","DOI":"10.1126\/science.aaz1776","article-title":"The GTEx Consortium atlas of genetic regulatory effects across human tissues.","volume":"369","author":"Consortium","year":"2020","journal-title":"Science"},{"issue":"3","key":"doi230028r47","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1038\/ng.3211","article-title":"LD Score regression distinguishes confounding from polygenicity in genome-wide association studies.","volume":"47","author":"Bulik-Sullivan","year":"2015","journal-title":"Nat Genet"},{"issue":"11","key":"doi230028r48","doi-asserted-by":"publisher","first-page":"1236","DOI":"10.1038\/ng.3406","article-title":"An atlas of genetic correlations across human diseases and traits.","volume":"47","author":"Bulik-Sullivan","year":"2015","journal-title":"Nat Genet"},{"issue":"11","key":"doi230028r49","doi-asserted-by":"publisher","first-page":"1616","DOI":"10.1038\/s41588-021-00954-4","article-title":"A generalized linear mixed model association tool for biobank-scale data.","volume":"53","author":"Jiang","year":"2021","journal-title":"Nat Genet"},{"issue":"9","key":"doi230028r50","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1038\/ng.3359","article-title":"Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.","volume":"47","author":"Liu","year":"2015","journal-title":"Nat Genet"},{"issue":"12","key":"doi230028r51","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007813","article-title":"Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.","volume":"14","author":"Day","year":"2018","journal-title":"PLoS Genet"},{"issue":"10","key":"doi230028r52","doi-asserted-by":"publisher","first-page":"1415","DOI":"10.1038\/s41588-021-00931-x","article-title":"A cross-population atlas of genetic associations for 220 human phenotypes.","volume":"53","author":"Sakaue","year":"2021","journal-title":"Nat Genet"},{"issue":"8","key":"doi230028r53","doi-asserted-by":"publisher","first-page":"1085","DOI":"10.1136\/annrheumdis-2021-221754","article-title":"Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.","volume":"81","author":"Saevarsdottir","year":"2022","journal-title":"Ann Rheum Dis"},{"issue":"7906","key":"doi230028r54","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1038\/s41586-022-04434-5","article-title":"Mapping genomic loci implicates genes and synaptic biology in schizophrenia.","volume":"604","author":"Trubetskoy","year":"2022","journal-title":"Nature"},{"issue":"5","key":"doi230028r55","doi-asserted-by":"publisher","first-page":"560","DOI":"10.1038\/s41588-022-01058-3","article-title":"Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.","volume":"54","author":"Mahajan","year":"2022","journal-title":"Nat Genet"},{"issue":"5","key":"doi230028r56","doi-asserted-by":"publisher","first-page":"S23","DOI":"10.1016\/j.jaad.2015.07.047","article-title":"New insights into the diagnosis of hidradenitis suppurativa: clinical presentations and phenotypes.","volume":"73","author":"van der Zee","year":"2015","journal-title":"J Am Acad Dermatol"},{"issue":"1","key":"doi230028r57","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0054355","article-title":"Expression and functional role of Sox9 in human epidermal keratinocytes.","volume":"8","author":"Shi","year":"2013","journal-title":"PLoS One"},{"issue":"13-14","key":"doi230028r58","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1101\/gad.349662.122","article-title":"KLF5 governs sphingolipid metabolism and barrier function of the skin.","volume":"36","author":"Lyu","year":"2022","journal-title":"Genes Dev"},{"issue":"1","key":"doi230028r59","doi-asserted-by":"publisher","first-page":"1776","DOI":"10.1038\/s41467-020-15649-3","article-title":"Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.","volume":"11","author":"Han","year":"2020","journal-title":"Nat Commun"},{"issue":"1","key":"doi230028r60","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.ajhg.2018.11.008","article-title":"Leveraging polygenic functional enrichment to improve GWAS power.","volume":"104","author":"Kichaev","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"5","key":"doi230028r61","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1016\/j.joen.2018.02.004","article-title":"Inhibition of SOX9 promotes inflammatory and immune responses of dental pulp.","volume":"44","author":"Luo","year":"2018","journal-title":"J Endod"},{"issue":"15","key":"doi230028r62","doi-asserted-by":"publisher","first-page":"1340","DOI":"10.1016\/j.cub.2005.06.064","article-title":"Sox9 is essential for outer root sheath differentiation and the formation of the hair stem cell compartment.","volume":"15","author":"Vidal","year":"2005","journal-title":"Curr Biol"},{"issue":"4","key":"doi230028r63","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1101\/gad.233247.113","article-title":"SOX9: a stem cell transcriptional regulator of secreted niche signaling factors.","volume":"28","author":"Kadaja","year":"2014","journal-title":"Genes Dev"},{"issue":"pt 17","key":"doi230028r64","doi-asserted-by":"publisher","first-page":"3593","DOI":"10.1242\/jcs.03070","article-title":"Epidermal and craniofacial defects in mice overexpressing Klf5 in the basal layer of the epidermis.","volume":"119","author":"Sur","year":"2006","journal-title":"J Cell Sci"},{"issue":"7","key":"doi230028r65","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.153488","article-title":"KLF5 protects the intestinal epithelium against Th17 immune response in a murine colitis model.","volume":"7","author":"Shieh","year":"2022","journal-title":"JCI Insight"},{"issue":"1","key":"doi230028r66","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/j.jaad.2019.02.068","article-title":"North American clinical management guidelines for hidradenitis suppurativa: a publication from the United States and Canadian Hidradenitis Suppurativa Foundations: part II: topical, intralesional, and systemic medical management.","volume":"81","author":"Alikhan","year":"2019","journal-title":"J Am Acad Dermatol"},{"issue":"2","key":"doi230028r67","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1111\/bjd.v187.2","article-title":"Interleukin-17RA blockade by brodalumab decreases inflammatory pathways in hidradenitis suppurativa skin and serum.","volume":"187","author":"Navrazhina","year":"2022","journal-title":"Br J Dermatol"},{"issue":"1","key":"doi230028r68","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1177\/12034754211035667","article-title":"Treatment outcomes of IL-17 inhibitors in hidradenitis suppurativa: a systematic review.","volume":"26","author":"Kashetsky","year":"2022","journal-title":"J Cutan Med Surg"},{"key":"doi230028r27","doi-asserted-by":"crossref","unstructured":"Kurki? MI, Karjalainen? J, Palta? P, . FinnGen: unique genetic insights from combining isolated population and national health register data.? medRxiv. Preprint posted online March 6, 2022. doi:10.1101\/2022.03.03.22271360","DOI":"10.1101\/2022.03.03.22271360"}],"container-title":["JAMA Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamadermatology\/articlepdf\/2807701\/jamadermatology_sun_2023_oi_230028_1695075709.61103.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,20]],"date-time":"2023-09-20T11:15:58Z","timestamp":1695208558000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamadermatology\/fullarticle\/2807701"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,1]]},"references-count":68,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamadermatol.2023.2217","relation":{},"ISSN":["2168-6068"],"issn-type":[{"value":"2168-6068","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9,1]]}}}