A sample of 584 male patients with myocardial infarction and 645 age-matched male healthy control subjects were genotyped. Transient transfection experiments and DNA-protein interaction assays indicated that the T allele had a higher promoter activity than the C allele, which appeared to be due to preferential binding of a putative transcription repressor protein to the C allelic promoter.
As a result, an unreported common polymorphism was detected, which arose from a cytosine (C) to thymidine (T) transition at position −1562 relative to the start of transcription. Methods and Results-Single-strand conformation polymorphism analysis was carried out to search the promoter region of the gene encoding gelatinase B for naturally occurring genetic variation. This study tested the hypothesis that sequence variation in the promoter region of the gelatinase B gene influences its expression, predisposing individuals carrying certain genetic variants to more severe atherosclerosis.