AI Article Synopsis
- Biliary epithelial cells in primary biliary cholangitis (PBC) patients release specific chemokines that attract CCR6 T cells, resulting in their infiltration into the biliary epithelium.
- A multi-national genome-wide meta-analysis, including a cohort from Han Chinese, found significant single nucleotide polymorphisms (SNPs) linked to PBC, categorized into "protective" and "risk" groups.
- Further analysis revealed that only the "risk" SNPs were consistently associated with PBC in a separate Han Chinese cohort, indicating a genetic vulnerability specific to this population.
Article Abstract
The biliary epithelial cells release CC chemokine receptor 6 () ligand 20 (), leading to recruitment of CCR6 T cells and subsequent infiltration into the biliary epithelium in primary biliary cholangitis patients. Previous genome-wide multi-national meta-analysis, including our Han Chinese cohort, showed significant association of and single nucleotide polymorphisms (SNP) with PBC. We report here that significantly associated SNPs, identified in the locus based on our Han Chinese genome-wide association study, can be separated into "protective" and "risk" groups, but only "risk" SNPs were confirmed using a separate Han Chinese PBC cohort. Only weak association of SNPs was observed in Han Chinese PBC cohorts. Fine-mapping and logistical analysis identified a previously defined functional variant that, leads to increased expression, which contributed to increased genetic susceptibility to PBC in Han Chinese cohort.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10891324 | PMC |
| http://dx.doi.org/10.1016/j.jtauto.2024.100234 | DOI Listing |
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