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Discovery of susceptibility loci associated with tuberculosis in Han Chinese

  • Hui Qi
  • , Yong Biao Zhang
  • , Lin Sun
  • , Cheng Chen
  • , Biao Xu
  • , Fang Xu
  • , Jia Wen Liu
  • , Jin Cheng Liu
  • , Chen Chen
  • , Wei Wei Jiao
  • , Chen Shen
  • , Jing Xiao
  • , Jie Qiong Li
  • , Ya Jie Guo
  • , Yong Hong Wang
  • , Qin Jing Li
  • , Qing Qin Yin
  • , Ying Jia Li
  • , Ting Wang
  • , Xing Yun Wang
  • Ming Liang Gu, Jun Yu, A. Dong Shen*
*Corresponding author for this work
  • Capital Medical University
  • CAS - Beijing Institute of Genomics
  • Shenzhen Center for Disease Control and Prevention
  • Fudan University
  • Karolinska Institutet
  • Beijing Geriatric Hospital
  • Tuberculosis Hospital of Shaanxi Province 710100

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)4752-4763
Number of pages12
JournalHuman Molecular Genetics
Volume26
Issue number23
DOIs
StatePublished - 1 Dec 2017
Externally publishedYes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

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