Ontology highlight
ABSTRACT:
SUBMITTER: Hitomi Y
PROVIDER: S-EPMC7907150 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Hitomi Yuki Y Aiba Yoshihiro Y Kawai Yosuke Y Kojima Kaname K Ueno Kazuko K Nishida Nao N Kawashima Minae M Gervais Olivier O Khor Seik-Soon SS Nagasaki Masao M Tokunaga Katsushi K Nakamura Minoru M Tsuiji Makoto M
Scientific reports 20210225 1
Primary biliary cholangitis (PBC) is a chronic, progressive cholestatic liver disease in which intrahepatic bile ducts are destroyed by an autoimmune reaction. Our previous genome-wide association study (GWAS) identified chromosome 11q23.1 as a susceptibility gene locus for PBC in the Japanese population. Here, high-density association mapping based on single nucleotide polymorphism (SNP) imputation and in silico/in vitro functional analyses identified rs1944919 as the primary functional variant ...[more]