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Background  Previous genome-wide association studies have evaluated the impact of common genetic variants and identified several non-HLA risk loci associated with autoimmune liver diseases. More recent genome-wide association studies and replication analyses reported an association between variants of the  CARD10  polymorphism rs6000782 and risk of type 1 autoimmune hepatitis (AIH). In this case–control study, we genotyped 326 Japanese AIH patients and 214 control subjects.    Results  Genomic DNA from 540 individuals of Japanese origin, including 326 patients with type-1 AIH and 214 healthy controls, was analyzed for two single nucleotide polymorphisms (SNPs) in the  CARD10  gene. We selected  CARD10  rs6000782 SNPs and genotyped these using PCR–RFLP method and direct sequencing. The Chi square test revealed that the rs6000782 variant alle (c) was not associated with the susceptibility for AIH in a Japanese population [ p  = 0.376, odds ratio (OR) 1.271, 95 % confidence interval (CI) 0.747–2.161] in an allele model. Our data also showed that  CARD10  rs6000782 variants were not associated with AIH or with the clinical parameters of AIH.    Conclusions  In this study we examined an association between rs6000782 SNPs in the  CARD10  gene and type-1 AIH. Results showed no significant association of rs62000782 with type-1 AIH in a Japanese population. This study demonstrated no association between  CARD10  rs6000782 variants and AIH in a Japanese population.

Lack of association between the CARD10 rs6000782 polymorphism and type 1 autoimmune hepatitis in a Japanese population