Association of CCR6 functional polymorphisms with Primary Biliary Cholangitis
Mingming Zhang1, Zhuye Qin2, Yexi Huang1
1Key Laboratory of Developmental Genes and Human Diseases, School of Life Science and Technology, Southeast University, Nanjing, Jiangsu, 210096, China.
Journal of Translational Autoimmunity
|February 26, 2024
Summary
Genetic variations in CCR6 increase susceptibility to primary biliary cholangitis (PBC) in Han Chinese individuals. Risk-associated single nucleotide polymorphisms (SNPs) in CCR6 were confirmed, highlighting their role in PBC pathogenesis.
Area of Science:
- Immunology
- Genetics
- Hepatology
Background:
- Primary biliary cholangitis (PBC) involves immune-mediated damage to bile ducts.
- CC chemokine receptor 6 (CCR6) and its ligand CCL20 are implicated in T cell recruitment in PBC.
- Previous studies suggest genetic associations between CCR6, CCL20, and PBC.
Purpose of the Study:
- To investigate the association of CCR6 and CCL20 single nucleotide polymorphisms (SNPs) with PBC in a Han Chinese cohort.
- To identify specific functional variants contributing to genetic susceptibility in PBC.
Main Methods:
- Genome-wide association study (GWAS) in a Han Chinese cohort.
- Fine-mapping and logistic analysis of identified SNPs.
- Replication analysis in a separate Han Chinese PBC cohort.
Main Results:
- Significantly associated SNPs in the CCR6 locus were identified and categorized into 'protective' and 'risk' groups.
- 'Risk' CCR6 SNPs were confirmed in an independent Han Chinese PBC cohort.
- A functional variant leading to increased CCR6 expression was identified, contributing to PBC susceptibility.
Conclusions:
- Specific 'risk' SNPs in the CCR6 locus confer increased genetic susceptibility to PBC in the Han Chinese population.
- Increased CCR6 expression due to a functional variant plays a role in PBC pathogenesis.
- The association of CCL20 SNPs with PBC in this cohort was weak.
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