{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Asselta R"],"funding":["Ministero della Salute","National Natural Science Foundation of China-Yunnan Joint Fund","NIDDK NIH HHS","Medical Research Council","Japan Agency for Medical Research and Development","National Institute for Health Research (NIHR)","National Institutes of Health","Academy of Medical Sciences","Japan Society for the Promotion of Science"],"pagination":["2483-2495.e26"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8169555"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["160(7)"],"pubmed_abstract":["<h4>Background & aims</h4>Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease.<h4>Methods</h4>We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals).<h4>Results</h4>Single-marker association analyses found approximately 100 loci displaying P < 5 × 10<sup>-4</sup>, with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10<sup>-6</sup>; odds ratio [OR], 1.39; 95% confidence interval [CI], 1.028-1.88; Japane"],"journal":["Gastroenterology"],"pubmed_title":["X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis."],"pmcid":["PMC8169555"],"funding_grant_id":["NIHR200243","MR/T023848/1","AMS-SGCL9-Mells","G0800460","MR/L001489/1","R01 DK091823","R01 DK123262"],"pubmed_authors":["Dillon J","Allison J","Ichida T","Picciotto A","Gervais O","Dias A","Yokosuka O","Butterworth J","Cordell HJ","Healey C","Wheatley N","Mattalia A","Duga S","Gunter E","Galaska R","Grieve E","Kawai Y","Takaki H","Grellier L","Glenn S","Takaki A","Andreone P","Ayres R","Kanda T","Walker K","Hashimoto E","Kendall J","Kitchen P","Bird B","Douds A","Orpe J","Furuta K","Milani C","Fisher N","Yapp T","Lleo A","Colombo S","Young K","Colombo M","Lawlor C","Patanwala I","Gleeson D","Floreani A","Koss K","White N","Joshita S","Saoshiro T","Lipscomb G","Levi S","Koga M","Miller R","Brunetto M","Invernizzi P","Shaukat S","Salam I","Siminovitch KA","Bird G","Gocher D","Houghton K","Alvaro D","Gunasekera A","Bishop R","Quinn M","Hines F","Sandford RN","Nasseri M","Nakao K","Mulvaney-Jones C","Gallagher S","Kaneko S","Colli A","Japan PBC-GWAS Consortium","Sato T","Mitchison H","Yamashita T","McCorry R","Bramley P","Featherstone J","Damant R","Sweeting H","Xiong M","Coco B","Crosignani A","Takikawa H","Pateman H","Whalley S","Lampertico P","Donato F","Davis A","Nagaoki Y","Tanqueray E","Carter M","Nakamura M","Komori A","Nakamura H","Shinder B","Thornthwaite S","Ota H","Cursaro C","Myers R","Rushbrook S","Abe M","Ang Y","March L","Mills M","Mills P","Warner K","Nakamura Y","Nambela E","MacFaul G","Dungca E","Carnahan M","Pollock K","Tiribelli C","Takeyama Y","Klass H","Valenti L","Sugawara Y","Saksena S","Mupudzi M","Atkinson E","Brookes M","Ramage J","Liu X","Tamura S","Mathialahan T","Gorard D","Sanghi P","Yoong K","Hussaini H","Lee HJ","Saeed A","Vyas S","Sayer J","Doyle H","Colloredo G","Aspinall R","Watanabe Y","Mells GF","Kokudo N","Heneghan M","Carbone M","Delahooke T","Congreave S","Yamauchi K","Mori A","Harada M","Harada K","Browning J","Ocker K","Shimada Y","Gitahi J","Sugimoto R","Gordon H","Tyrer D","Shimada M","Baxter G","Affronti A","Tsunematsu S","Toniutto P","Shewan T","Brighton J","Malinverno F","Prince M","Leoni M","Hoeroldt B","Verheyden J","Migita K","Rosina F","Keggans J","Onji M","Forton D","Yamashiki N","Hankey L","Southern P","Neal D","Morini L","Battezzati PM","Ramanaden D","Silvestre V","Dyer S","Kobata T","Mizokami M","Italian PBC Genetics Study Group","Thomas C","Ncube N","Burroughs A","Mann S","Shibata H","Bowles J","Harvey R","Dawwas M","Paton A","Cloudsdale R","Yamagiwa S","Elphick D","Casey R","Unitt E","Kent L","Maehara Y","Kent M","Ferrari C","Hynes A","Hogben K","Booth J","Shepherd A","Ishibashi H","Almasio PL","Casella G","Juran B","Kawashima M","Curtis H","Higham A","Cowan M","Czajkowski M","Hirano K","Nagasaki M","Curtis J","Wood G","Saha S","Marley R","Muratori L","Takesaki E","Muratori P","Stansfield G","Greer S","Cox M","Mano Y","Kikuchi M","Shearman J","Ido A","Gee I","Elliott K","Kikuchi K","Gotto J","Kobayashi M","Ninkovic M","Marra F","Watson A","Taniai M","Giannini E","Cramp M","Sirdefield D","Cumlat L","Millson C","Wooldridge H","Douglass A","Ishida J","Aldersley M","Komatsu T","Peltekian K","Mandal A","Sen S","Mannami T","Bruno S","Sakai H","Bragazzi 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Contribution to the Genetic Architecture of Primary Biliary Cholangitis.","description":"<h4>Background & aims</h4>Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease.<h4>Methods</h4>We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals).<h4>Results</h4>Single-marker association analyses found approximately 100 loci displaying P < 5 × 10<sup>-4</sup>, with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10<sup>-6</sup>; odds ratio [OR], 1.39; 95% confidence interval [CI], 1.028-1.88; Japane","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jun","modification":"2026-05-09T04:18:08.305Z","creation":"2025-04-04T22:03:58.503Z"},"accession":"S-EPMC8169555","cross_references":{"pubmed":["33675743"],"doi":["10.1053/j.gastro.2021.02.061"]}}