Open AccessDiscovery of susceptibility loci associated with tuberculosis in Han Chinese
Author(s) -
Hui Qi,
YongBiao Zhang,
Lin Sun,
Cheng Chen,
Biao Xu,
Fang Xu,
Jiawen Liu,
Jincheng Liu,
Chen Chen,
Weiwei Jiao,
ChenYang Shen,
Jing Xiao,
Jieqiong Li,
Yajie Guo,
Yonghong Wang,
Qinjing Li,
Qing-qin Yin,
Yingjia Li,
Ting Wang,
Xingyun Wang,
Mingliang Gu,
Jun Yu,
Adong Shen
Publication year - 2017
Publication title -
human molecular genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.811
H-Index - 276
eISSN - 1460-2083
pISSN - 0964-6906
DOI - 10.1093/hmg/ddx365
Subject(s) - biology , genome wide association study , single nucleotide polymorphism , tuberculosis , genetics , odds ratio , genetic association , population , haplotype , genotype , gene , medicine , environmental health , pathology
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 1537 controls were retained. After replication on an additional 3460 TB patients and 4862 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.
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