en عمومى General پژوهشي Research Article <span style="font-size:12pt"><span style="line-height:16.0pt"><span new="" roman="" style="font-family:" times=""><b><i><span style="font-size:9.0pt">Background & Aims</span></i></b><b><span style="font-size:9.0pt">: </span></b><span style="font-size:9.0pt">Premature coronary artery disease (CAD) is common in&nbsp;men and women under 45 and 55 years,&nbsp;respectively. It has been demonstrated that R202Q mutation of <i>MEFV</i> gene may increase the risk of cardiovascular disease in individuals with metabolic syndrome. The goal of the present investigation was to&nbsp;evaluate&nbsp;the frequency of&nbsp;<i>MEFV</i> gene mutation R202Q in exon 2 in Iranian patients with premature CAD (West Azerbaijan province of Iran). </span></span></span></span><br> <span style="font-size:12pt"><span style="line-height:16.0pt"><span new="" roman="" style="font-family:" times=""><b><i><span style="font-size:9.0pt">Materials & Methods</span></i></b><b><span style="font-size:9.0pt">:</span></b><span style="font-size:9.0pt"> 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. <i>Pvu</i>II based PCR-RFLP technique was used for the detection of R202Q mutation in the tested samples.</span></span></span></span><br> <span style="font-size:12pt"><span style="line-height:16.0pt"><span new="" roman="" style="font-family:" times=""><b><i><span style="font-size:9.0pt">Results</span></i></b><b><span style="font-size:9.0pt">:</span></b><span style="font-size:9.0pt"> 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). </span></span></span></span><br> <span style="font-size:12pt"><span style="line-height:16.0pt"><span new="" roman="" style="font-family:" times=""><b><i><span style="font-size:9.0pt">Conclusion</span></i></b><b><span style="font-size:9.0pt">:</span></b> <span style="font-size:9.0pt">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.</span></span></span></span> Arg202Gln (605 G > A), MEFV Gene, Premature CAD, R202Q Mutation 84 89 http://hsm.umsu.ac.ir/browse.php?a_code=A-10-115-1&slc_lang=en&sid=1 Morteza Bagheri mortazabagheri@yahoo.com 10031947532846002468 10031947532846002468 Yes Cellular and Molecular Research Center, Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences, Urmia, Iran Kamal Khadem-Vatani Kamal Khadem-Vatani 10031947532846002469 10031947532846002469 No Seyyed-al Shohada University Hospital, Urmia University of Medical Sciences, Urmia, Iran Isa Abdi Rad isa abdi rad 10031947532846002470 10031947532846002470 No Cellular and Molecular Research Center, Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences, Urmia, Iran MirHossein Seyed-Mohammadzad mohammadzad.h@umsu.ac.ir 10031947532846002471 10031947532846002471 No Seyyed-al Shohada University Hospital, Urmia University of Medical Sciences, Urmia, Iran Alireza Rostamzadeh rostamzadeh.a@umsu.ac.ir 10031947532846002472 10031947532846002472 No Seyyed-al Shohada University Hospital, Urmia University of Medical Sciences, Urmia, Iran Behzad Rahimi rahimi.b@umsu.ac.ir 10031947532846002473 10031947532846002473 No Seyyed-al Shohada University Hospital, Urmia University of Medical Sciences, Urmia, Iran Negin Kavosi mortezabagheri94@gmail.com 10031947532846002474 10031947532846002474 No Student Research Committee, Urmia University of Medical Sciences, Urmia, Iran