Frequency of the R202Q mutation of MEFV gene in Iranian patients with premature coronary artery disease: a report from West Azerbaijan province of Iran

Premature coronary artery disease (CAD) is common in men and women under 45 and 55 years, respectively. It has been demonstrated that R202Q mutation of MEFV gene may increase the risk of cardiovascular disease in individuals with metabolic syndrome. The goal of the present investigation was to evaluate the frequency of MEFV gene mutation R202Q in exon 2 in Iranian patients with premature CAD (West Azerbaijan province of Iran).

A total of 100 patients with premature CAD and 100 healthy individuals participated in this hospital-based study. Cases and controls were selected based on strict criteria, including a minimum of one documented angiography with at least 50% stenosis of the coronary artery. PvuII based PCR-RFLP technique was used for the detection of R202Q mutation in the tested samples.

R202Q mutation was not found in any of the healthy controls; whereas 12 out of 100 patients with premature CAD were heterozygote for R202Q mutation (12%) (12% vs. 0%). Considering the heterozygosity of the R202Q mutation in the patients, the allele frequency was 0.06 (12 out of 200 chromosomes).

Our results indicate that the R202Q mutation in the MEFV gene is frequent in patients with premature CAD. Further studies are necessary to analyze more details regarding variable expressivity or incomplete penetrance of R202Q mutation in the tested population.