El-Menyar Ayman A, Rizk Nasser M, Al-Qahtani Awad, AlKindi Fahad, Elyas Ahmed, Farag Fathi, Bakhsh Fadheela Dad, Ebrahim Samah, Ahmed Emad, Al-Khinji Mooza, Al-Thani Hassan, Suwaidi Jassim Al
Department of Clinical medicine, Weill Cornell Medical School, Doha, Qatar ; Department of Surgery, Clinical Research, Hamad General Hospital, Doha, Qatar ; Department of Internal Medicine, Ahmed Maher Teaching Hospital, Cairo, Egypt.
Department of Health Sciences, CAS, Qatar University, Doha, Qatar ; Department of Physiology, Faculty of Medicine, Al-Mansoura, Egypt.
J Res Med Sci. 2015 Apr;20(4):346-52.
Based on several reports including genome-wide association studies, genetic variability has been linked with higher (nearly half) susceptibility toward coronary artery disease (CAD). We aimed to evaluate the association of chromosome 9p21 single nucleotide polymorphisms (SNPs): rs2383207, rs10757278, and rs10757274 with the risk and severity of CAD among Arab population.
A prospective observational case-control study was conducted between 2011 and 2012, in which 236 patients with CAD were recruited from the Heart Hospital in Qatar. Patients were categorized according to their coronary angiographic findings. Also, 152 healthy volunteers were studied to determine if SNPs are associated with risk of CAD. All subjects were genotyped for SNPs (rs2383207, rs2383206, rs10757274 and rs10757278) using allele-specific real-time polymerase chain reaction.
Patients with CAD had a mean age of 57 ± 10; of them 77% were males, 54% diabetics, and 25% had family history of CAD. All SNPs were in Hardy-Weinberg equilibrium except rs2383206, with call rate >97%. After adjusting for age, sex and body mass index, the carriers of GG genotype for rs2383207 have increased the risk of having CAD with odds ratio (OR) of 1.52 (95% confidence interval [CI] = 1.01-2.961, P = 0.046). Also, rs2383207 contributed to CAD severity with adjusted OR 1.80 (95% CI = 1.04-3.12, P = 0.035) based on the dominant genetic model. The other SNPs (rs10757274 and rs10757278) showed no significant association with the risk of CAD or its severity.
Among Arab population in Qatar, only G allele of rs2483207 SNP is significantly associated with risk of CAD and its severity.
基于包括全基因组关联研究在内的多项报告，遗传变异性与冠状动脉疾病（CAD）的更高（近一半）易感性有关。我们旨在评估9号染色体p21单核苷酸多态性（SNP）：rs2383207、rs10757278和rs10757274与阿拉伯人群CAD风险及严重程度之间的关联。
在2011年至2012年期间进行了一项前瞻性观察性病例对照研究，从卡塔尔心脏医院招募了236例CAD患者。根据冠状动脉造影结果对患者进行分类。此外，研究了152名健康志愿者，以确定SNP是否与CAD风险相关。使用等位基因特异性实时聚合酶链反应对所有受试者进行SNP（rs2383207、rs2383206、rs10757274和rs10757278）基因分型。
CAD患者的平均年龄为57±10岁；其中77%为男性，54%为糖尿病患者，25%有CAD家族史。除rs2383206外，所有SNP均处于哈迪-温伯格平衡，检出率>97%。在调整年龄、性别和体重指数后，rs2383207的GG基因型携带者患CAD的风险增加，比值比（OR）为1.52（95%置信区间[CI]=1.01-2.961，P=0.046）。此外，基于显性遗传模型，rs2383207对CAD严重程度的贡献调整后的OR为1.80（95%CI=1.04-3.12，P=0.035）。其他SNP（rs10757274和rs10757278）与CAD风险或其严重程度无显著关联。
在卡塔尔的阿拉伯人群中，只有rs2483207 SNP的G等位基因与CAD风险及其严重程度显著相关。
