title: Association of polymorphisms in the Chr18q11.2 locus with tuberculosis in Chinese population.
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.
authors: Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, Hong Kong, China. beya_002@163.com
authors: Xingyan
authors: X
authors: Wang
authors: Nelson Leung-Sang
authors: NL
authors: Tang
authors: Chi Chiu
authors: CC
authors: Leung
authors: Kai Man
authors: KM
authors: Kam
authors: Wing Wai
authors: WW
authors: Yew
authors: Cheuk Ming
authors: CM
authors: Tam
authors: Chiu Yeung
authors: CY
authors: Chan
mesh_terms: D000368:Aged; D044466:Asian People; D016022:Case-Control Studies; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014397:Tuberculosis, Pulmonary / Q000208:ethnology / Q000235:genetics*