Genetic associations of cholelithiasis and biliary tract cancer.

ABSTRACT: Biliary tract cancer (BTC) is highly malignant and more prevalent in populations with cholelithiasis, but the underlying mechanisms remain unclear. This study aimed to investigate the potential genetic links between cholelithiasis and BTC. We first employed single- and two-sample Mendelian randomization to assess whether the association between cholelithiasis and BTC incidence was influenced by confounding factors, revealing a significant association between cholelithiasis and BTC (P < 0.05). Multi-trait analysis of GWAS identified five novel lead genomic risk loci for BTC, with functional mapping and annotation performed using FUMA. Colocalization analysis using quantitative trait loci data highlighted shared signals for LRPPRC and ABCG5 in liver tissue. Additionally, in individuals witho

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC12481097 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature