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CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis

Carpenter, Danielle; Taype, Carmen; Goulding, Jon; Levin, Mike; Eley, Brian; Anderson, Suzanne; Shaw, Marie-Anne; Armour, John A.L.

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Danielle Carpenter

Carmen Taype

Jon Goulding

Mike Levin

Brian Eley

Suzanne Anderson

Marie-Anne Shaw

John A.L. Armour


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.


Carpenter, D., Taype, C., Goulding, J., Levin, M., Eley, B., Anderson, S., …Armour, J. A. (in press). CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis. BMC Medical Genetics, 15(5),

Journal Article Type Article
Acceptance Date Dec 19, 2013
Online Publication Date Jan 9, 2014
Deposit Date Jun 21, 2016
Publicly Available Date Jun 21, 2016
Journal BMC Medical Genetics
Electronic ISSN 1471-2350
Publisher Springer Verlag
Peer Reviewed Peer Reviewed
Volume 15
Issue 5
Keywords CCL3L1, Mycobacterium tuberculosis, Association, CCR5, MIP-1?
Public URL
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Carpenter et al 2014.pdf (505 Kb)

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