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A single nucleotide polymorphism in the 3\u2032 untranslated region of HLA-DPB1, rs9277534, is associated with HLA-DPB1 expression. rs9277534 has been linked to hepatitis B virus recovery\/persistence and the risk of graft-versus-host disease with HLA-DPB1 mismatching transplantation of hematopoietic cells, but its role along with that of HLA-DP expression in AIH have not been fully clarified. We genotyped rs9277534 in 146 Japanese patients with AIH and 326 healthy subjects. HLA-DPB1 expression was determined by quantitative PCR. HLA-DPB1 expression was significantly higher for rs9277534G than for rs9277534A (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05). rs9277534 genotype was in strong linkage disequilibrium with the HLA-DPB1 allele (pairwise D\u2032\u2009=\u20090.82\u20131.00). Although HLA-DP alleles were not significantly associated with AIH, the frequency of the rs9277534G allele was significantly higher in AIH patients compared with healthy subjects (<jats:italic>P<\/jats:italic>\u2009=\u20090.002, odds ratio [OR]\u2009=\u20091.56). Logistic regression analysis revealed that the HLA-DRB1*04:05 allele (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001, OR\u2009=\u20094.61) and rs9277534 (<jats:italic>P<\/jats:italic>\u2009=\u20090.004, OR\u2009=\u20091.67) were independently associated with AIH susceptibility. rs9277534G in the HLA-DP gene is an eQTL that affects gene expression and may contribute to AIH susceptibility.<\/jats:p>","DOI":"10.1038\/s41598-018-30406-9","type":"journal-article","created":{"date-parts":[[2018,8,3]],"date-time":"2018-08-03T10:20:38Z","timestamp":1533291638000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A cis-eQTL of HLA-DPB1 Affects Susceptibility to Type 1 Autoimmune Hepatitis"],"prefix":"10.1038","volume":"8","author":[{"given":"Tomoo","family":"Yamazaki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7985-919X","authenticated-orcid":false,"given":"Takeji","family":"Umemura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6364-9654","authenticated-orcid":false,"given":"Satoru","family":"Joshita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaname","family":"Yoshizawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiji","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masao","family":"Ota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,8,9]]},"reference":[{"key":"30406_CR1","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1056\/NEJMra050408","volume":"354","author":"EL Krawitt","year":"2006","unstructured":"Krawitt, E. 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