Human Molecular Genetics
Human Molecular Genetics
4 years ago

Discovery of Susceptibility Loci Associated with Tuberculosis in Han Chinese.

Qing-Qin Yin, Yong-Biao Zhang, Qin-Jing Li, Jun Yu, Ting Wang, Ya-Jie Guo, Chen Chen, Jing Xiao, Jin-Cheng Liu, Jia-Wen Liu, Biao Xu, A-Dong Shen, Chen Shen, Cheng Chen, Lin Sun, Hui Qi, Xing-Yun Wang, Ying-Jia Li, Wei-Wei Jiao, Yong-Hong Wang, Fang Xu, Jie-Qiong Li, Ming-Liang Gu
Genome-wide association studies (GWASs) have revealed the worldwide heterogeneity of genetic factors in tuberculosis (TB) susceptibility. Despite having the third highest global TB burden, no TB-related GWAS has been performed in China. Here, we performed the first three-stage GWAS on TB in the Han Chinese population. In the stage 1 (discovery stage), after quality control, 691,388 SNPs present in 972 TB patients and 1,537 controls were retained. After replication on an additional 3,460 TB patients and 4,862 controls (stages 2 and 3), we identified three significant loci associated with TB, the most significant of which was rs4240897 (logistic regression P = 1.41 × 10-11, odds ratio = 0.79). The aforementioned three SNPs were harbored by MFN2, RGS12, and human leukocyte antigen class II beta chain paralogue encoding genes, all of which are candidate immune genes associated with TB. Our findings provide new insight into the genetic background of TB in the Han Chinese population.

Publisher URL: http://doi.org/10.1093/hmg/ddx365

DOI: 10.1093/hmg/ddx365

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