CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis

Carpenter, Danielle and Taype, Carmen and Goulding, Jon and Levin, Mike and Eley, Brian and Anderson, Suzanne and Shaw, Marie-Anne and Armour, John A.L. (2014) CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis. BMC Medical Genetics, 15 (5). ISSN 1471-2350

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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.

Item Type: Article
Keywords: CCL3L1, Mycobacterium tuberculosis, Association, CCR5, MIP-1α
Schools/Departments: University of Nottingham UK Campus > Faculty of Medicine and Health Sciences > School of Life Sciences
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Depositing User: Eprints, Support
Date Deposited: 21 Jun 2016 12:24
Last Modified: 13 Sep 2016 18:08

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