Associations Between Genetic Polymorphisms In GPC1and Risk Of Biliary Atresia

Objective: Biliary atresia (BA) is a rare neonatal hepatobiliary disease characterized byprogressive fibrosclerosing obstruction of the biliary system then causing severecholestasis and biliary cirrhosis.. Although several hypotheses have been suggested, theetiology and pathogenesis of BA are unknown. Researchers have used genome-wideassociation study (GWAS) of single nucleotide polymorphisms (SNPs) to detectsusceptibility genes in BA. A GWAS identified a critical region on2q37.3, furthermore,they investigated expression patterns orthologues in zebrafish liver, finally they observed aincrease in deletions at2q37.3in BA patients led to one copy deletion of GPC1and itseems to be a BA susceptibility gene. In order to find more detail evidence of theassociation between GPC1and BA risk, we selected GPC1（rs3828336C＞T） viaHapMap database and conducted a case-control study to investigate them.Methods:A total of136BA cases (Males=67; Females=69). None of patients hadother associated congenital malformation. All subjects were ethnic Han Chinese. Cases diagnosed by laparoscopic cholangiography and histopathologically confirmed bybiopsy of liver at Shenzhen Children’s Hospital. As controls,618individuals (Males=303; Females=315) from China with no diagnosis of BA, congenital disease or liver disease were included. Informed consent was obtained from all subjects or legalguardians of every child for collecting their blood to study. The study was approved by the Ethics Committees of Shenzhen Children’s Hospital.Genotypes were analyzed in136Han Chinese BA cases and618ethnically matched healthy controls by TaqMan genotyping assay. SPSS13.0software was used to analyze the data in orderto investigate association btwween GPC1（rs3828336C＞T） and susceptibility tobiliary atresia.Results:1.The male/female ratios of cases and controls were49.3%,50.7%and49.0%,51.0%, there was no significant difference in gander distribution (P=0.96). 2.When comparing cases with controls, we observed no statistically significant difference in genotype distributions of GPC1（rs3828336C＞T）.Conclusion: Our study suggested that there is no significant association btwweenGPC1（rs3828336C＞T） and susceptibility to biliary atresia.