Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population
Open accessAbstract
Multiple genome-wide association studies of primary biliary cirrhosis (PBC) in both European and Japanese ancestries have shown significant associations of many genetic loci contributing to the susceptibility to PBC. Major differences in susceptibility loci between these two population groups were observed. In this study, we examined whether the most significant loci observed in either European and/or Japanese cohorts are associated with PBC in a Han Chinese population. In 1070 PBC patients and 1198 controls, we observed highly significant associations at CD80 (rs2293370, P = 2.67 × 10(-8)) and TNFSF15 (rs4979462, P = 3.86 × 10(-8)) and significant associations at 17q12-21 (rs9303277), PDGFB (rs715505), NF-κB1 (rs7665090), IL12RB2 (rs11209050), and STAT4 (rs7574865; all corrected P values <0.01). However, no association was observed for POU2AF1 (rs4938534), IL12A (rs485499 and rs2366408), IL7R (rs6897932), CXCR5 (rs715412), SOCS1 (rs725613), and TNFRSF1A (rs1800693). STAT4 (rs7574865) was strongly associated after additional control samples were analyzed. Our study is the first large-scale genetic analysis in a Han Chinese PBC cohort. These results do not only reflect that Han Chinese PBC patients share common genetic susceptibility genes with both their Japanese and European counterparts but also suggest a distinctly different genetic susceptibility profile.
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The presence of genetic susceptibility is supported by the increased concordance rate in monozygotic twins and confirmed by the identification of significant numbers of associated genetic loci in GWAS and other large-scale genetic approaches.
“The presence of genetic susceptibility is supported by the increased concordance rate in monozygotic twins44 and confirmed by the identification of significant numbers of associated genetic loci in Genome Wide Association Studies (GWAS) and other large-scale, high-quality genetic approaches.45–54”
From The British Society of Gastroenterology/UK-PBC primary biliary cholangitis treatment and management guidelines (2018) · cites this paper as [53]
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References 31 · Cited by 54
- Authors
- Dong, M., Li, J., Tang, R., Zhu, P., Qiu, F., Wang, C., Qiu, J., Wang, L., Dai, Y., Xu, P., Gao, Y., Han, C., Wang, Y., Wu, J., Wu, X., Zhang, K., Dai, N., Sun, W., Zhou, J., Hu, Z., Liu, L., Jiang, Y., Nie, J., Zhao, Y., Gong, Y., Tian, Y., Ji, H., Jiao, Z., Jiang, P., Shi, X., Jawed, R., Zhang, Y., Huang, Q., Li, E., Wei, Y., Xie, W., Zhao, W., Liu, X., Zhu, X., Qiu, H., He, G., Chen, W., Seldin, M. F., Gershwin, M. E., Liu, X., & Ma, X.
- Affiliations
- Southeast University (CN)
- Shanghai Jiao Tong University (CN)
- Nanjing Second Hospital (CN)
- 81th Hospital of PLA (CN)
- Soochow University (CN)
- Shanghai University of Traditional Chinese Medicine (CN)
- Yangzhou University (CN)
- Changzhou Third People's Hospital (CN)
- Yancheng First People's Hospital (CN)
- Nanjing Drum Tower Hospital (CN)
- Jiangsu University (CN)
- Jiangyin People's Hospital (CN)
- Wuxi People's Hospital (CN)
- Yixing People's Hospital (CN)
- Huaian First People’s Hospital (CN)
- Changshu No. 2 People's Hospital (CN)
- Nantong University (CN)
- Affiliated Hospital of Jiangsu University (CN)
- Fudan University (CN)
- University of California, Davis (US)
- Corresponding author
- Liu, Xiang
- Gershwin, M. Eric
- Liu, Xiangdong
- Ma, Xiong
- ORCID
- Venue
- Clinical Reviews in Allergy & Immunology
- Published
- 2015-02-19
- Volume
- 48
- Issue
- 2-3
- Pages
- 316-321
- ISSN
- 1080-0549 (ISSN-L)
- 1559-0267
- PMC
- PMC5584624
- OpenAlex
- W1970610959
- Cited by
- 54
- References
- 31
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 1 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 6 · 2019: 6 · 2018: 3 · 2017: 6 · 2016: 7 · 2015: 7
- FWCI
- 4.54
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Clinical Reviews in Allergy & Immunology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Natural Science Foundation of China
- Collaborative Innovation Center for Cardiovascular Disease Translational Medicine
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK091823)
- Topics
- Health Sciences › Medicine › Hepatology › Liver Diseases and Immunity
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Inflammatory Bowel Disease
- Keywords
- primary biliary cirrhosis, genetic susceptibility, Han Chinese, CD80, TNFSF15, STAT4, IL12RB2, PDGF-B, NFKB1, population-specific genetic association, autoimmune liver disease
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, China, Female, Genotype, Humans, Liver Cirrhosis, Biliary, Male, Middle Aged, Genetic Variation, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Asian People, Genome-Wide Association Study, Young Adult
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