CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis

BMC Medical Genetics

John AL Armour³  Marie-Anne Shaw²  Suzanne Anderson⁵  Brian Eley⁴  Mike Levin¹  Jon Goulding³  Carmen Taype²  Danielle Carpenter³ 

[1] Department of Medicine, Imperial College London, South Kensington Campus, London SW7 2AZ, UK;Institute of Integrative and Comparative Biology, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK;School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, UK;Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa;Medical Research Council Unit, Banjul, Fajara, The Gambia

关键词: MIP-1α;    CCR5;    Association;    Mycobacterium tuberculosis;    CCL3L1;   

Others  :  1122542
DOI  :  10.1186/1471-2350-15-5

 received in 2013-10-02, accepted in 2013-12-19,  发布年份 2014

【 摘 要 】

Background

Tuberculosis is a major infectious disease and functional studies have provided evidence that both the chemokine MIP-1α and its receptor CCR5 play a role in susceptibility to TB. Thus by measuring copy number variation of CCL3L1, one of the genes that encode MIP-1α, and genotyping a functional promoter polymorphism -2459A > G in CCR5 (rs1799987) we investigate the influence of MIP-1α and CCR5, independently and combined, in susceptibility to clinically active TB in three populations, a Peruvian population (n = 1132), a !Xhosa population (n = 605) and a South African Coloured population (n = 221). The three populations include patients with clinically diagnosed pulmonary TB, as well as other, less prevalent forms of extrapulmonary TB.

Methods and results

Copy number of CCL3L1 was measured using the paralogue ratio test and exhibited ranges between 0–6 copies per diploid genome (pdg) in Peru, between 0–12 pdg in !Xhosa samples and between 0–10 pdg in South African Coloured samples. The CCR5 promoter polymorphism was observed to differ significantly in allele frequency between populations (*A; Peru f = 0.67, !Xhosa f = 0.38, Coloured f = 0.48).

Conclusions

The case–control association studies performed however find, surprisingly, no evidence for an influence of variation in genes coding for MIP-1α or CCR5 individually or together in susceptibility to clinically active TB in these populations.

【 授权许可】

   
2014 Carpenter et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

Figure 3.

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