Mafi Golchin Maryam, Ghaderian Sayyed Mohammad Hossein, Akhavan-Niaki Haleh, Jalalian Rozita, Heidari Laleh, Salami Seyed Alireza
Department of Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran.
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Int J Mol Cell Med. 2017 Winter;6(1):31-37. Epub 2017 Jan 17.
Coronary artery disease (CAD) including myocardial infarction (MI) as its complication, is one of the most common heart diseases worldwide and also in Iran, with extremely elevated mortality. CAD is a multifactorial disorder. Twin and family studies at different loci have demonstrated that genetic factors have an important role in the progression of CAD. Many studies have reported a significant association of , also known as which is located within the p15, p16, p14 gene cluster at 9p21 locus, with cardiovascular diseases as well as many other diseases like diabetes and cancers. This study investigated two polymorphisms rs10757274 and rs1333042 of gene at 9p21 locus. 205 subjects, comprising 102 controls and 103 CAD patients were genotyped by TaqMan probe real time PCR technique and haplotypes were examined. This study confirmed the association of rs10757274 variants with CAD in Iranian patients (P= 0.003) but genotype and allele distributions of CAD and control groups showed no significant association for the rs1333042. However, frequency of the [G;G] haplotype of these two SNPs was significantly higher in CAD group (P= 0.0002, Odds Ratio = 3.1, 95% CI = 1.7-5.7). Our finding suggests that [G; G] haplotype of rs10757274 and rs1333042 may be considered as a genetic risk factor for susceptibility to CAD in Iranian patients.
冠状动脉疾病（CAD）包括作为其并发症的心肌梗死（MI），是全球以及伊朗最常见的心脏病之一，死亡率极高。CAD是一种多因素疾病。不同位点的双胞胎和家族研究表明，遗传因素在CAD的进展中起重要作用。许多研究报告称，位于9p21位点的p15、p16、p14基因簇内的 ，也称为 ，与心血管疾病以及许多其他疾病如糖尿病和癌症有显著关联。本研究调查了9p21位点 基因的两个多态性rs10757274和rs1333042。通过TaqMan探针实时PCR技术对205名受试者进行基因分型，其中包括102名对照和103名CAD患者，并检查单倍型。本研究证实了rs10757274变异与伊朗患者CAD的关联（P = 0.003），但CAD组和对照组的基因型和等位基因分布显示rs1333042无显著关联。然而，CAD组中这两个SNP的[G;G]单倍型频率显著更高（P = 0.0002，优势比 = 3.1，95%可信区间 = 1.7 - 5.7）。我们的研究结果表明，rs10757274和rs1333042的[G;G]单倍型可能被视为伊朗患者易患CAD的遗传危险因素。
