CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis

dc.contributor.authorCarpenter, Danielle
dc.contributor.authorTaype, Carmen
dc.contributor.authorGoulding, Jon
dc.contributor.authorLevin, Mike
dc.contributor.authorEley, Brian
dc.contributor.authorAnderson, Suzanne
dc.contributor.authorShaw, Marie-Anne
dc.contributor.authorArmour, John A
dc.date.accessioned2015-07-30T03:50:48Z
dc.date.available2015-07-30T03:50:48Z
dc.date.issued2014-01-09
dc.date.updated2015-01-15T17:59:17Z
dc.description.abstractAbstract 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.
dc.identifier.apacitationCarpenter, D., Taype, C., Goulding, J., Levin, M., Eley, B., Anderson, S., ... Armour, J. A. (2014). CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis. <i>BMC Medical Genetics</i>, http://hdl.handle.net/11427/13577en_ZA
dc.identifier.chicagocitationCarpenter, Danielle, Carmen Taype, Jon Goulding, Mike Levin, Brian Eley, Suzanne Anderson, Marie-Anne Shaw, and John A Armour "CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis." <i>BMC Medical Genetics</i> (2014) http://hdl.handle.net/11427/13577en_ZA
dc.identifier.citationCarpenter, D., Taype, C., Goulding, J., Levin, M., Eley, B., Anderson, S., ... & Armour, J. A. (2014). CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis. BMC medical genetics, 15(1), 5.
dc.identifier.ris TY - Journal Article AU - Carpenter, Danielle AU - Taype, Carmen AU - Goulding, Jon AU - Levin, Mike AU - Eley, Brian AU - Anderson, Suzanne AU - Shaw, Marie-Anne AU - Armour, John A AB - Abstract 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. DA - 2014-01-09 DB - OpenUCT DO - 10.1186/1471-2350-15-5 DP - University of Cape Town J1 - BMC Medical Genetics LK - https://open.uct.ac.za PB - University of Cape Town PY - 2014 T1 - CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis TI - CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis UR - http://hdl.handle.net/11427/13577 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/13577
dc.identifier.urihttp://dx.doi.org/10.1186/1471-2350-15-5
dc.identifier.vancouvercitationCarpenter D, Taype C, Goulding J, Levin M, Eley B, Anderson S, et al. CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis. BMC Medical Genetics. 2014; http://hdl.handle.net/11427/13577.en_ZA
dc.language.rfc3066en
dc.publisher.departmentDepartment of Paediatrics and Child Healthen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rightsThis is an Open Access article distributed under the terms of the Creative Commons Attribution License*
dc.rights.holderCarpenter et al.; licensee BioMed Central Ltd.
dc.rights.urihttp://creativecommons.org/licenses/by/2.0*
dc.sourceBMC Medical Geneticsen_ZA
dc.source.urihttp://www.biomedcentral.com/bmcmedgenet/
dc.subject.otherCCL3L1; Mycobacterium tuberculosis; Association; CCR5; MIP-1α;Paediatrics and Child Healthen_ZA
dc.titleCCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis
dc.typeJournal Articleen_ZA
uct.type.filetype
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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