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Our study aimed to (1) identify novel alleles associated with sarcoidosis susceptibility; (2) provide an in-depth evaluation of HLA alleles and sarcoidosis susceptibility and (3) integrate genetic and transcription data to identify risk loci that may more directly impact disease pathogenesis. We report a genome-wide association study of 1335 sarcoidosis cases and 1264 controls of European descent (EA) and investigate associated alleles in a study of African Americans (AA: 1487 cases and 1504 controls). The EA and AA cohort was recruited from multiple United States sites. HLA alleles were imputed and tested for association with sarcoidosis susceptibility. Expression quantitative locus and colocalization analysis were performed using a subset of subjects with transcriptome data. Forty-nine SNPs in the HLA region in HLA-DRA, -DRB9, -DRB5, -DQA1 and BRD2 genes were significantly associated with sarcoidosis susceptibility in EA, rs3129888 was also a risk variant for sarcoidosis in AA. Classical HLA alleles DRB1*0101, DQA1*0101 and DQB1*0501, which are highly correlated, were also associated with sarcoidosis. rs3135287 near HLA-DRA was associated with HLA-DRA expression in peripheral blood mononuclear cells and bronchoalveolar lavage from subjects and lung tissue and whole blood from GTEx. We identified six novel SNPs (out of the seven SNPs representing the 49 significant SNPs) and nine HLA alleles associated with sarcoidosis susceptibility in the largest EA population. We also replicated our findings in an AA population. Our study reiterates the potential role of antigen recognition and\/or presentation HLA class II genes in sarcoidosis pathogenesis.<\/jats:p>","DOI":"10.1093\/hmg\/ddad067","type":"journal-article","created":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T10:45:52Z","timestamp":1688121952000},"page":"2669-2678","source":"Crossref","is-referenced-by-count":27,"title":["Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility"],"prefix":"10.1093","volume":"32","author":[{"given":"Shu-Yi","family":"Liao","sequence":"first","affiliation":[{"name":"Department of Medicine, National Jewish Health , Denver, CO 80206 , USA"},{"name":"University of Colorado Anschutz Medical Campus Department of Medicine, , Aurora, CO 80045 , USA"},{"name":"University of Colorado Denver\u2013Anschutz Medical Campus Colorado School of Public Health, , Aurora, CO 80045 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Jacobson","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Jewish Health , Denver, CO 80206 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabeel Y","family":"Hamzeh","sequence":"additional","affiliation":[{"name":"University of Iowa Department of Medicine, , Iowa City, IA 52242 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel A","family":"Culver","sequence":"additional","affiliation":[{"name":"Cleveland Clinic Department of Medicine, , Cleveland, OH 44195 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Briana Q","family":"Barkes","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Jewish Health , Denver, CO 80206 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarita","family":"Mroz","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Jewish Health , Denver, CO 80206 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristyn","family":"Macphail","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Jewish Health , Denver, CO 80206 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Pacheco","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Jewish Health , Denver, CO 80206 , USA"},{"name":"University of Colorado Anschutz Medical Campus Department of Medicine, , Aurora, CO 80045 , USA"},{"name":"University of Colorado Denver\u2013Anschutz Medical Campus Colorado School of Public Health, , Aurora, CO 80045 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Divya C","family":"Patel","sequence":"additional","affiliation":[{"name":"University of Florida Department of Medicine, Division of Pulmonary, Critical Care and Sleep Medicine, , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasmine S","family":"Wasfi","sequence":"additional","affiliation":[{"name":"Johnson & Johnson , Spring House, PA 19034 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura L","family":"Koth","sequence":"additional","affiliation":[{"name":"University of California-San Fransisco Department of Medicine, , San Fransisco, CA 94143 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carl D","family":"Langefeld","sequence":"additional","affiliation":[{"name":"Wake Forest University School of Medicine Department of Biostatistics and Data Science, , Winston-Salem, NC 27101 , USA"},{"name":"Wake Forest University School of Medicine , Center for Precision Medicine, Winston-Salem, NC 27101 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia M","family":"Leach","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Jewish Health , Denver, CO 80206 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"White","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Jewish Health , Denver, CO 80206 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney","family":"Montgomery","sequence":"additional","affiliation":[{"name":"Oklahoma Medical Research Foundation , Oklahoma City, OK 73104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A","family":"Maier","sequence":"additional","affiliation":[{"name":"Department of Medicine, National Jewish Health , Denver, CO 80206 , USA"},{"name":"University of Colorado Anschutz Medical Campus Department of Medicine, , Aurora, CO 80045 , USA"},{"name":"University of Colorado Denver\u2013Anschutz Medical Campus Colorado School of Public Health, , Aurora, CO 80045 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tasha E","family":"Fingerlin","sequence":"additional","affiliation":[{"name":"University of Colorado Anschutz Medical Campus Department of Medicine, , Aurora, CO 80045 , USA"},{"name":"University of Colorado Denver\u2013Anschutz Medical Campus Colorado School of Public Health, , Aurora, CO 80045 , USA"},{"name":"National Jewish Health Department of Immunology and Genomic Medicine, , Denver, CO 80206 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"GRADs Investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,7,3]]},"reference":[{"key":"2023080808425555000_ref1","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/j.rmed.2012.02.007","article-title":"Unexpectedly high prevalence of sarcoidosis in a representative U.S. metropolitan population","volume":"106","author":"Erdal","year":"2012","journal-title":"Respir. 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