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

Hum Genet. 2013 Jun;132(6):691-5. doi: 10.1007/s00439-013-1282-7. Epub 2013 Mar 3.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Asian People*
  • Case-Control Studies
  • Chromosomes, Human, Pair 18 / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Loci*
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Tuberculosis, Pulmonary / ethnology
  • Tuberculosis, Pulmonary / genetics*