Thrombospondin-4 1186G>C (A387P) is a sex-dependent risk factor for myocardial infarction: a large replication study with increased sample size from the same population.

Background: Case-control studies have successfully identified many genetic associations for complex diseases but suffer from lack of reproducibility in the same population. Demonstrating weak genetic effect requires large sample sizes to minimize statistical bias. Based on a study examining 500 myocardial infarction (MI) patients and 500 controls from the genetically isolated Newfoundland population, we previously reported that thrombospondin-4 (THBS-4) 1186G>C variant associates with MI in women.