Genetic risk factors for autoimmune hepatitis: implications for phenotypic heterogeneity and biomarkers for drug response

Author:

Higuchi Takashi,Oka Shomi,Furukawa HiroshiORCID,Tohma Shigeto,Yatsuhashi Hiroshi,Migita Kiyoshi

Abstract

AbstractAutoimmune hepatitis (AIH) is a rare chronic progressive liver disease with autoimmune features. 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 (HLA) and non-HLAgenes. A genome-wide association study (GWAS) on European AIH revealed the strongest associations to be with single nucleotide variants (SNVs) inHLA. Predisposing alleles for AIH wereDRB1*03:01andDRB1*04:01in Europeans;DRB1*04:04,DRB1*04:05, andDRB1*13:01in Latin Americans; andDRB1*04:01andDRB1*04:05in Japanese. Other risk SNVs in non-HLAgenes 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.

Funder

National Hospital Organization

Publisher

Springer Science and Business Media LLC

Subject

Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

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