{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T08:18:50Z","timestamp":1793348330355,"version":"4.5.0"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P01 DK046763"],"award-info":[{"award-number":["P01 DK046763"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["U01 DK062413"],"award-info":[{"award-number":["U01 DK062413"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,10,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Sex is an integral variable often overlooked in complex disease genetics. Differences between sexes have been reported in natural history, disease complications, and age of onset in inflammatory bowel disease (IBD). While association studies have identified &amp;gt;230 IBD loci, there have been a limited number of studies investigating sex differences underlying these genetic associations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We report the first investigation of sex-dimorphic associations via meta-analysis of a sex-stratified association study (34 579 IBD cases, 39 125 controls). In addition, we performed chromosome (chr) X\u2013specific analyses, considering models of X inactivation (XCI) and XCI escape. Demographic and clinical characteristics were also compared between sexes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We identified significant differences between sexes for disease location and perianal complication in Crohn\u2019s disease and disease extent in ulcerative colitis. We observed genome-wide-significant sex-dimorphic associations (P\u2005&amp;lt;\u20055\u2005\u00d7\u200510-8) at loci not previously reported in large-scale IBD genetic studies, including at chr9q22, CARMIL1, and UBASH3A. We identified variants in known IBD loci, including in chr2p15 and within the major histocompatibility complex on chr6, exhibiting sex-specific patterns of association (P\u2005&amp;lt;\u20055\u2005\u00d7\u200510-7 in one sex only). We identified 3 chrX associations with IBD, including a novel Crohn\u2019s disease susceptibility locus at Xp22.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>These analyses identified novel IBD loci, in addition to characterizing sex-specific patterns of associations underlying sex-dimorphic associations. By elucidating the role of sex in IBD genetics, our study will help enhance our understanding of the differences between the sexes in IBD biology and underscores a need to move beyond conventional sex-combined analyses to appreciate the genetic architecture of IBD more comprehensively.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ibd\/izad089","type":"journal-article","created":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T23:24:03Z","timestamp":1685661843000},"page":"1622-1632","source":"Crossref","is-referenced-by-count":27,"title":["Sex-Dimorphic Analyses Identify Novel and Sex-Specific Genetic Associations in Inflammatory Bowel Disease"],"prefix":"10.1093","volume":"29","author":[{"given":"Michelle","family":"Khrom","sequence":"first","affiliation":[{"name":"F. Widjaja Inflammatory Bowel Disease Institute, Cedars-Sinai Medical Center , Los Angeles, CA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalin","family":"Li","sequence":"additional","affiliation":[{"name":"F. Widjaja Inflammatory Bowel Disease Institute, Cedars-Sinai Medical Center , Los Angeles, CA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeo","family":"Naito","sequence":"additional","affiliation":[{"name":"F. Widjaja Inflammatory Bowel Disease Institute, Cedars-Sinai Medical Center , Los Angeles, CA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3711-2180","authenticated-orcid":false,"given":"Ho-Su","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine , Seoul , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory J","family":"Botwin","sequence":"additional","affiliation":[{"name":"F. Widjaja Inflammatory Bowel Disease Institute, Cedars-Sinai Medical Center , Los Angeles, CA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alka A","family":"Potdar","sequence":"additional","affiliation":[{"name":"F. Widjaja Inflammatory Bowel Disease Institute, Cedars-Sinai Medical Center , Los Angeles, CA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Boucher","sequence":"additional","affiliation":[{"name":"Research Center, Montreal Heart Institute , Montreal, Quebec , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"NIDDK Inflammatory Bowel Disease Genetics Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"International Inflammatory Bowel Disease Genetics Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaohong","family":"Yang","sequence":"additional","affiliation":[{"name":"F. 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Widjaja Inflammatory Bowel Disease Institute, Cedars-Sinai Medical Center , Los Angeles, CA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3067-0139","authenticated-orcid":false,"given":"Kyuyoung","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine , Seoul , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dermot P B","family":"McGovern","sequence":"additional","affiliation":[{"name":"F. Widjaja Inflammatory Bowel Disease Institute, Cedars-Sinai Medical Center , Los Angeles, CA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9005-7750","authenticated-orcid":false,"given":"Talin","family":"Haritunians","sequence":"additional","affiliation":[{"name":"F. 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