Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia - heterogeneous distribution in the South African population
Date
2002-6
Journal Title
Journal ISSN
Volume Title
Publisher
Health & Medical Publishing Group
Abstract
Objective. The frequencies of mutations 677C→T and 1298A→C in the methylenetetrahydrofolate reductase (MTHFR) gene, previously shown to be associated with decreased enzyme activity that may lead to hyperhomocysteinaemia and consequently increased risk of cardiovascular disease (CVD), were determined in the South African population. Methods. HinfI (677C→T) and MboII (1298A→C) restriction enzyme analyses were performed on amplified DNA samples of 76 white, 73 coloured and 60 black subjects. Results. The mutant alleles of mutations 677C→T and 1298A→C were more common in the white (allele frequencies 0.36 and 0.37, respectively) than in the black population (0.04 and 0.09), while intermediate frequencies were detected in the coloured population (0.18 and 0.30). Homozygosity for mutation 677C→T was not detected in the black cohort, while this genotype was detected in 1 coloured (1.4%) and 8 white (10.5%) subjects. In the black population, 5% of the 60 subjects analysed were homozygous for mutation 1298A→C, compared with approximately 12% in both the white and coloured populations. Conclusions. Since hyperhomocysteinaemia is a risk factor for premature CVD, the heterogeneous distribution of the 677C→T and 1298A→C mutations across ethnic groups may partly explain ethnic differences in heart disease risk through decreased enzyme activity and hence increased homocysteine levels.
Description
CITATION: Scholtz, C.L. et al. 2002. Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia - heterogeneous distribution in the South African population. S Afr Med J, 92(10):464-467.
The original publication is available at http://www.samj.org.za
The original publication is available at http://www.samj.org.za
Keywords
Genetic heterogeneity, Methylenetetrahydrofolate reductase, Hyperhomocysteinaemia, Homocysteine, MTHFR gene -- South Africa, Cardiovascular system -- Diseases, Genetics, Population
Citation
Scholtz, C.L. et al. 2002. Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia - heterogeneous distribution in the South African population. S Afr Med J, 92(10):464-467.