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Multiple Genetic Variants Associated with Primary Biliary Cirrhosis in a Han Chinese Population

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Abstract

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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Acknowledgments

We would like to thank the patients for their participation in this study. This work was supported in part by grants from the National Natural Science Foundation of China (No. 81270295 to XDL, 81170380 and 81325002 to XM and 81400608 to RQT) and the Southeast University Fund. Dr. Xiangdong Liu is a Fellow at the Collaborative Innovation Center for Cardiovascular Disease Translational Medicine and the recipient of the Jiangsu Provincial Innovation fund. We also thank Jinfei Chen and Meilin Wang (Nanjing Medical University) for providing control genotyping data.

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All authors declare that they have no conflict of interest.

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Correspondence to M. Eric Gershwin, Xiangdong Liu or Xiong Ma.

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Ming Dong, Jinxin Li, and Ruqi Tang contributed equally to this work.

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Dong, M., Li, J., Tang, R. et al. Multiple Genetic Variants Associated with Primary Biliary Cirrhosis in a Han Chinese Population. Clinic Rev Allerg Immunol 48, 316–321 (2015). https://doi.org/10.1007/s12016-015-8472-0

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  • DOI: https://doi.org/10.1007/s12016-015-8472-0

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