Study of genetic risk factors for myocardial infarction in the Newfoundland population

Abstract

Myocardial infarction (MI) is a leading cause of death in developed countries. Genetic association studies have been applied to search for associations between MI and candidate genes. In the present study, genetic variants for two MI candidate genes, thrombospondins-4 (THBS4) (29926C>G) and methylenetetrahydrofolate reductase (MTHFR) (677C>T and 1298A>C) were genotyped using a large cohort from the genetically homogenous Newfoundland population. This study focused on determining the distribution of each individual gene variants, and possible intragenic and intergenic allelic interactions. Our results suggest that: 1) homozygosity for the THBS4 29926C variant is associated with MI, especially in older females; 2) the MTHFR 677T is a weak protective factor against MI but its effect is silenced when it is in cis with 1298C; 3) the MTHFR 1298C is a risk factor for later onset MI and its effect is reduced when the trans configuration with 677T.