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It mainly affects middle-aged women. AIH is occasionally complicated with liver cirrhosis that worsens the prognosis. Genetic and environmental factors are involved in the pathogenesis of AIH. Genetic studies of other diseases have been revealing of pathogenesis and drug efficacy. In this review, we summarize the genetic risk factors for AIH, including human leukocyte antigen (<jats:italic>HLA<\/jats:italic>) and non-<jats:italic>HLA<\/jats:italic> genes. A genome-wide association study (GWAS) on European AIH revealed the strongest associations to be with single nucleotide variants (SNVs) in <jats:italic>HLA<\/jats:italic>. Predisposing alleles for AIH were <jats:italic>DRB1*03:01<\/jats:italic> and <jats:italic>DRB1*04:01<\/jats:italic> in Europeans; <jats:italic>DRB1*04:04<\/jats:italic>, <jats:italic>DRB1*04:05<\/jats:italic>, and <jats:italic>DRB1*13:01<\/jats:italic> in Latin Americans; and <jats:italic>DRB1*04:01<\/jats:italic> and <jats:italic>DRB1*04:05<\/jats:italic> in Japanese. Other risk SNVs in non-<jats:italic>HLA<\/jats:italic> genes for AIH were found by a candidate gene approach, but several SNVs were confirmed in replication studies. Some genetic factors of AIH overlapped with those of other autoimmune diseases. Larger-scale GWASs of other ethnic groups are required. The results of genetic studies might provide an explanation for the phenotypic heterogeneity of AIH and biomarkers for drug responses.<\/jats:p>","DOI":"10.1186\/s40246-020-00301-4","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T09:32:03Z","timestamp":1611826323000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Genetic risk factors for autoimmune hepatitis: implications for phenotypic heterogeneity and biomarkers for drug response"],"prefix":"10.1186","volume":"15","author":[{"given":"Takashi","family":"Higuchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shomi","family":"Oka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1353-8056","authenticated-orcid":false,"given":"Hiroshi","family":"Furukawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeto","family":"Tohma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Yatsuhashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoshi","family":"Migita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,1,28]]},"reference":[{"issue":"1","key":"301_CR1","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1056\/NEJMra050408","volume":"354","author":"EL Krawitt","year":"2006","unstructured":"Krawitt EL. 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Informed consents in writing were obtained from all the participants. The study was performed in accordance with the principles expressed in the Declaration of Helsinki.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not required.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"HY was supported by research grants from AbbVie GK. The other authors declare no financial or commercial conflicts of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"6"}}