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- W3029528023 abstract "Objective To investigate the association of single nucleotide polymorphisms(SNPs) of hepatocyte nuclear factor 6 (HNF6) gene and their haplotypes in patients with biliary atresia (BA).Methods DNA was isolated from 117 BA patients and 125 healthy controls.The SNPs of HNF 6 were genotyped using Taqman SNP genotyping assay for 1666C/T (rs2456525)、-400G/T (rs2456523)、858G/T(rs2075613) allelic discrimination.The allele and genotype frequencies and risk factors of BA subjects and controls were analyzed by Chi-square test.The haplotype were reconstructed and the common haplotypes frequencies were evaluated by Haploview software.Results No significant differences were found in genotyping frequencies of CC (41.1% vs.33.6%),CI (52.1% vs.52.0%) and TT (6.8% vs.14.4%) as well as alleles C (67.1% vs.59.6%) and T(32.9% vs.40.4%) in rs2456525,frequencies of GG (7.7% vs.16.8%),GT (53.0% vs.48.0%) and TT (39.3% vs.35.2%) as well as alleles G (34.2% vs.40.8%) and T (65.8% vs.59.2%) in rs2456523 and frequencies of GG (74.4% vs.71.2%),GT (24.8% vs.27.2%) and TT (0.9% vs.1.6%) as well as alleles G (86.8% vs.84.8%) and TT (13.2% vs.15.2%) in rs2075613 between BA subjects and controls.But the frequencies in the CTG hapolatype reconstructed by the 3 SNPs were found to be associated with BA (P=0.028).The disease risk of the CTG hapolatype was 1.511.Conclusions The allelic variation rs2456525,rs2456523 and rs2075613 in HNF-6 gene might not individually contribute to the susceptibility of BA subjects.Yet the CTG hapolatype may be related to BA.Individuals having CTG hapolatype are at a relatively high risk for BA.Key words: Biliary atresia; Polymorphisms; single nucleotide" @default.
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- W3029528023 date "2009-10-15" @default.
- W3029528023 modified "2023-09-27" @default.
- W3029528023 title "Association of hepatocyte nuclear factor 6 haplotype with biliary aresia" @default.
- W3029528023 doi "https://doi.org/10.3760/cma.j.issn.0253-3006.2009.10.004" @default.
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