Association of the HLA locus and TNF with type I autoimmune hepatitis susceptibility in New Zealand Caucasians

Purpose The precise etiology of autoimmune hepatitis (AIH) remains unknown, although a number of genetic loci have been implicated in the susceptibility of type 1 AIH. The purpose of this study was to test for association of these loci with type 1 AIH in New Zealand Caucasians. Methods 77 AIH patients and 485 healthy controls were genotyped for the SNPs rs2187668 ( HLA-DRB*03:01 ), rs660895 ( HLA-DRB*04:01 ), rs3749971 ( HLA-A1-B8-DR3 ), rs231775 ( CLTLA4 ), rs1800629 ( TNF ), and rs1800682 ( FAS ) using predesigned TaqMan SNP genotyping assays. Chi square analysis was used to test for association of allele and genotype with overall AIH, and with severe fibrosis and ALT levels at 6 months. Results Significant risk of AIH was conferred by the minor alleles of rs2187668 (OR = 2.45, 95% CI 1.65-3.61, p