Human Genetics

, Volume 132, Issue 6, pp 691–695

Association of polymorphisms in the Chr18q11.2 locus with tuberculosis in Chinese population

  • Xingyan Wang
  • Nelson Leung-Sang Tang
  • Chi Chiu Leung
  • Kai Man Kam
  • Wing Wai Yew
  • Cheuk Ming Tam
  • Chiu Yeung Chan
Original Investigation

DOI: 10.1007/s00439-013-1282-7

Cite this article as:
Wang, X., Tang, N.LS., Leung, C.C. et al. Hum Genet (2013) 132: 691. doi:10.1007/s00439-013-1282-7

Abstract

A GWAS study has reported that two single nucleotide polymorphisms (SNPs) were associated with predisposition to tuberculosis (TB) in African populations. These two loci represented the long-waited GWAS hits for TB susceptibility. To determine whether these two SNPs are associated with TB in Chinese population, we attempted an replication in a cohort of over one thousand Chinese TB patients and 1,280 healthy controls using melting temperature shift allele-specific genotyping analysis. We found that only SNP rs4331426 was significantly associated with TB in Chinese population (p = 0.011). However, the effect was opposite. The G allele of the SNP in Chinese population is a protective allele (OR = 0.62, 95 % CI 0.44–0.87), while it was the risk allele for African population (OR = 1.19, 95 % CI 1.12–1.26). No significance was found for SNP rs2335704. The results provided an independent support for a role in susceptibility to TB for SNP rs4331426. However, it also indicated that direct predisposition element to TB and the association effects may vary across ethnic groups.

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Xingyan Wang
    • 1
    • 2
  • Nelson Leung-Sang Tang
    • 1
    • 2
    • 6
  • Chi Chiu Leung
    • 3
  • Kai Man Kam
    • 4
  • Wing Wai Yew
    • 5
  • Cheuk Ming Tam
    • 3
  • Chiu Yeung Chan
    • 5
  1. 1.Department of Chemical PathologyThe Chinese University of Hong KongHong KongChina
  2. 2.Functional Genomics and Biostatistical Computing LaboratoryShenzhen Research Institute of the Chinese University of Hong KongHong KongChina
  3. 3.Tuberculosis and Chest ServiceDepartment of HealthHong KongChina
  4. 4.School of Public HealthThe Chinese University of Hong KongHong KongChina
  5. 5.Department of MicrobiologyThe Chinese University of Hong KongHong KongChina
  6. 6.Li Ka Shing Institute of Health SciencesThe Chinese University of Hong KongHong KongChina