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Premature coronary heart disease (PCHD) affects public health and leads to death. PCHD has several genetic and environmental risk factors. The aim of this study was to analysis of the mutations in exon 10 of MEFV gene in patients with PCHD in West Azerbaijan province of Iran.  Methods:  Totally 41 PCHD patients who were admitted to the cardiology unit of Sayedoshohada hospital (Urmia, Iran) enrolled in the study. Selection of the patients was done based on the strict criteria, that is, who had a minimum of one angiographically documented coronary artery with the stenosis of 50%. Mutations in exon 10 of MEFV gene were found by direct sequencing.  Results:  V726A, M680I, K695R, and A744S mutations with 2.44%, 1.22%, 1.22%, and 1.22%, allelic frequency were found, respectively. Five patients (12.2%) with PCHD carried at least one mutated MEFV allele. Heterozygote V726A was the most frequent mutation among tested cases (4.88%), followed by heterozygote M680I, heterozygote K695R, and heterozygote A744S.  Conclusion:  The results of the present study imply that the frequency of the MEFV gene exon 10 is significantly high in PCHD patients. This is the first report in its own kind in clinically diagnosed PCHD pa-tients of Iranian Azeri Turkish population.

Analysis of the mutations in exon 10 of MEFV gene in patients with premature coronary heart disease in west Azerbaijan province of Iran