Association of common variation in ADD3 and GPC1 with biliary atresia susceptibility.

ABSTRACT: Biliary atresia (BA) is an idiopathic neonatal cholestatic disease. Recent genome-wide association study (GWAS) revealed that common variation of ADD3, GPC1, ARF6, and EFEMP1 gene was associated with BA susceptibility. We aimed to evaluate the association of these genes with BA in Chinese population. Twenty single nucleotide polymorphisms (SNPs) in these four genes were genotyped in 340 BA patients and 1,665 controls. Three SNPs in ADD3 were significantly associated with BA, and rs17095355 was the top SNP (P_Allele = 3.23×10^-6). Meta-analysis of published data and current data indicated that rs17095355 was associated with BA susceptibility in Asians and Caucasians. Three associated SNPs were expression quantitative trait loci (

SUBMITTER: Bai MR 

PROVIDER: S-EPMC7202506 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature