Show simple item record

dc.contributor.authorNienaber-Rousseau, Cornelie
dc.contributor.authorEllis, Suria M.
dc.contributor.authorMoss, Sarah J.
dc.contributor.authorTowers, G. Wayne
dc.contributor.authorMelse-Boonstra, Alida
dc.identifier.citationNienaber-Rousseau, C. et al. 2013. Gene-environment and gene-gene interactions of specific MTHFR, MTR and CBS gene variants in relation to homocysteine in a black South Africans. Gene, 530(1):113-118. []en_US
dc.identifier.issn1879-0038 (Online)
dc.description.abstractThe methylenetetrahydrofolate reductase (MTHFR), cystathione-β-synthase (CBS) and methionine synthase (MTR) genes interact with each other and the environment. These interactions could influence homocysteine (Hcy) and diseases contingent thereon. We determined single nucleotide polymorphisms (SNPs) within these genes, their relationships and interactions with total Hcy concentrations within black South Africans to address the increased prevalence of diseases associated with Hcy. The MTHFR 677 TT and MTR 2756 AA genotypes were associated with higher Hcy concentrations (16.6 and 10.1 μmol/L; p b 0.05) compared to subjects harboring the MTHFR 677 CT/CC and the MTR 2756 AG genotypes (10.5, 9.7 and 9.5 μmol/L, respectively). The investigated CBS genotypes did not influence Hcy.We demonstrated interactions between the area of residence and the CBS T833C/844ins68 genotypes (p = 0.005) so that when harboring the wildtype allele, rural subjects had significantly higher Hcy than their urban counterparts, but when hosting the variant allele the environment made no difference to Hcy. Between the CBS T833C/844ins68 or G9276A and MTHFR C677T genotypes, there were two-way interactions (p = 0.003 and = 0.004, respectively), with regard to Hcy. Subjects harboring the MTHFR 677 TT genotype in combination with the CBS 833 TT/homozygous 844 non-insert or the MTHFR 677 TT genotype in combination with the CBS 9276 GA/GG displayed higher Hcy concentrations. Therefore, some of the investigated genotypes affected Hcy; residential area changed the way in which the CBS T833C/844ins68 SNPs influenced Hcy concentrations highlighting the importance of environmental factors; and gene–gene interactions allude to epistatic effectsen_US
dc.description.sponsorshipSANPAD (South Africa- Netherlands Research Programme on Alternatives in Development), South African National Research Foundation (NRF),North-West University (NWU), Population Health Research Institute (PHRI), Medical Research Council (MRC) and the NorthWest Province Health Departmenten_US
dc.subjectCystathionine beta-synthaseen_US
dc.subjectmethylenetetrahydrofolate reductaseen_US
dc.subjectmethionine synthaseen_US
dc.titleGene-environment and gene-gene interactions of specific MTHFR, MTR and CBS gene variants in relation to homocysteine in a black South Africansen_US
dc.contributor.researchID12632449 - Nienaber-Rousseau, Cornelie
dc.contributor.researchID10188908 - Ellis, Susanna Maria
dc.contributor.researchID10210407 - Moss, Sarah Johanna
dc.contributor.researchID12686417 - Towers, Gordon Wayne

Files in this item


There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record