CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis

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 func...

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Main Authors: Carpenter, Danielle, Taype, Carmen, Goulding, Jon, Levin, Mike, Eley, Brian, Anderson, Suzanne, Shaw, Marie-Anne, Armour, John A.L.
Format: Article
Published: BioMed Central 2014
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Online Access:https://eprints.nottingham.ac.uk/34289/
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author Carpenter, Danielle
Taype, Carmen
Goulding, Jon
Levin, Mike
Eley, Brian
Anderson, Suzanne
Shaw, Marie-Anne
Armour, John A.L.
author_facet Carpenter, Danielle
Taype, Carmen
Goulding, Jon
Levin, Mike
Eley, Brian
Anderson, Suzanne
Shaw, Marie-Anne
Armour, John A.L.
author_sort Carpenter, Danielle
building Nottingham Research Data Repository
collection Online Access
description 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.
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spelling nottingham-342892020-05-04T16:41:56Z https://eprints.nottingham.ac.uk/34289/ 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. 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. BioMed Central 2014-01-09 Article PeerReviewed Carpenter, Danielle, Taype, Carmen, Goulding, Jon, Levin, Mike, Eley, Brian, Anderson, Suzanne, 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 CCL3L1 Mycobacterium tuberculosis Association CCR5 MIP-1α http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-15-5 doi:10.1186/1471-2350-15-5 doi:10.1186/1471-2350-15-5
spellingShingle CCL3L1
Mycobacterium tuberculosis
Association
CCR5
MIP-1α
Carpenter, Danielle
Taype, Carmen
Goulding, Jon
Levin, Mike
Eley, Brian
Anderson, Suzanne
Shaw, Marie-Anne
Armour, John A.L.
CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis
title CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis
title_full CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis
title_fullStr CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis
title_full_unstemmed CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis
title_short CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis
title_sort ccl3l1 copy number, ccr5 genotype and susceptibility to tuberculosis
topic CCL3L1
Mycobacterium tuberculosis
Association
CCR5
MIP-1α
url https://eprints.nottingham.ac.uk/34289/
https://eprints.nottingham.ac.uk/34289/
https://eprints.nottingham.ac.uk/34289/