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

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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.

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Acknowledgments

The authors declare that they have no conflict of interest. This paper is supported by the Chinese University of Hong Kong Direct Grant.

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Authors and Affiliations

  1. Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, Hong Kong, China

    Xingyan Wang & Nelson Leung-Sang Tang

  2. Functional Genomics and Biostatistical Computing Laboratory, Shenzhen Research Institute of the Chinese University of Hong Kong, Hong Kong, China

    Xingyan Wang & Nelson Leung-Sang Tang

  3. Tuberculosis and Chest Service, Department of Health, Hong Kong, China

    Chi Chiu Leung & Cheuk Ming Tam

  4. School of Public Health, The Chinese University of Hong Kong, Hong Kong, China

    Kai Man Kam

  5. Department of Microbiology, The Chinese University of Hong Kong, Hong Kong, China

    Wing Wai Yew & Chiu Yeung Chan

  6. Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong, China

    Nelson Leung-Sang Tang

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  1. Xingyan Wang
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  2. Nelson Leung-Sang Tang
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  3. Chi Chiu Leung
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  4. Kai Man Kam
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  5. Wing Wai Yew
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  7. Chiu Yeung Chan
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Correspondence to Nelson Leung-Sang Tang.

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Wang, X., Tang, N.LS., Leung, C.C. et al. Association of polymorphisms in the Chr18q11.2 locus with tuberculosis in Chinese population. Hum Genet 132, 691–695 (2013). https://doi.org/10.1007/s00439-013-1282-7

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  • DOI: https://doi.org/10.1007/s00439-013-1282-7

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