Association of polymorphisms in the Chr18q11.2 locus with tuberculosis in Chinese population
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ORIGINAL INVESTIGATION
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
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Received: 9 October 2012 / Accepted: 19 February 2013 / Published online: 3 March 2013 Ó Springer-Verlag Berlin Heidelberg 2013
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
X. Wang N. L.-S. Tang (&) Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, Hong Kong, China e-mail: [email protected] X. Wang e-mail: [email protected] X. Wang N. L.-S. Tang Functional Genomics and Biostatistical Computing Laboratory, Shenzhen Research Institute of the Chinese University of Hong Kong, Hong Kong, China N. L.-S. Tang Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong, China C. C. Leung C. M. Tam Tuberculosis and Chest Service, Department of Health, Hong Kong, China K. M. Kam School of Public Health, The Chinese University of Hong Kong, Hong Kong, China W. W. Yew C. Y. Chan Department of Microbiology, The Chinese University of Hong Kong, Hong Kong, China
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.
Introduction Tuberculosis (TB) is a global disease with high disease burden particularly in Africa and Asia. In addition, it seems to be controlled after the improvement of sanitation condition and the development of anti-tuberculosis agent, it becomes a serious healthy matter again and threatens the mankind in the modern society nowadays as the emergency of the multidrug-resistant strains and co-infection between tuberculosis and human immunodeficiency virus (Zumla and Schaaf 2009). Genetic factors are believed to play significant roles in TB (Brodie and Schluger 2005). However, although many researches have been studied on this topic, the genetic pathogenesis of TB is still a mystery even in the present GWAS era. Few GWAS papers about TB were published till now (Mahasirimongkol et al. 2012; Thye et al. 2012). Familial linkage stud
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