Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia--heterogeneous distribution in the South African population.

Abstract

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.