Single cell sequencing analysis identifies genetics-modulated ORMDL3⁺ cholangiocytes having higher metabolic effects on primary biliary cholangitis.

ABSTRACT:

Background

Primary biliary cholangitis (PBC) is a classical autoimmune disease, which is highly influenced by genetic determinants. Many genome-wide association studies (GWAS) have reported that numerous genetic loci were significantly associated with PBC susceptibility. However, the effects of genetic determinants on liver cells and its immune microenvironment for PBC remain unclear.

Results

We constructed a powerful computational framework to integrate GWAS summary statistics with scRNA-seq data to uncover genetics-modulated liver cell subpopulations for PBC. Based on our multi-omics integrative analysis, 29 risk genes including ORMDL3, GSNK2B, and DDAH2 were significantly associated with PBC susceptibility. By combining GWAS summary statistics with scRNA-seq data, we foun

SUBMITTER: Xiang B 

PROVIDER: S-EPMC8647381 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature