Genome-wide association meta-analysis identifies novel GP2 gene risk variants for pancreatic cancer in the Japanese population

作者: Yingsong Lin , Masahiro Nakatochi , Hidemi Ito , Yoichiro Kamatani , Akihito Inoko

DOI: 10.1101/498659

关键词:

摘要: The etiology of pancreatic cancer remains largely unknown. Here, we report the results a meta-analysis three genome-wide association studies (GWASs) comprising 2,039 cases and 32,592 controls, largest sample size in Japanese population. We identified 3 (13q12.2, 13q22.1, 16p12.3) significant loci (P<5.0x10-8) 4 suggestive (P<1.0x10-6) for cancer. Of these risk loci, 16p12.3 is novel; lead SNP maps to rs78193826 (odds ratio (OR)=1.46, 95% CI=1.29-1.66, P=4.28x10-9), an Asian-specific, nonsynonymous glycoprotein 2 (GP2) gene variant predicted be highly deleterious. Additionally, gene-based GWAS novel gene, KRT8, which linked exocrine liver diseases. GP2 variants were pleiotropic multiple traits, including type diabetes, hemoglobin A1c (HbA1c) levels, Mendelian randomization analyses corroborated causality between HbA1c These findings suggest that are associated with susceptibility population, prompting further functional characterization this locus.

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