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法国科西嘉岛冠状动脉疾病遗传风险因素的患病率

Prevalence of genetic risk factors for coronary artery disease in Corsica island (France).

作者信息

Falchi A, Giovannoni L, Piras I S, Calo C M, Moral P, Vona G, Varesi L

机构信息

Department of Human Genetics, Faculty of Science, University of Corsica, BP52 20250 Corte Corsica, France.

出版信息

Exp Mol Pathol. 2005 Dec;79(3):210-3. doi: 10.1016/j.yexmp.2005.09.005. Epub 2005 Oct 24.

Abstract

We have investigated the frequencies of seven markers among 100 unrelated individuals with angiographically documented CAD (Coronary Artery Disease) and among 100 unrelated healthy blood donors in the central region of Corsica island (France). The seven polymorphisms analyzed were chosen from six candidate genes involved in (1) Renin-Angiotensin system: Angiotensin converting enzyme (ACE I/D), (2) Lipid metabolism: Cholesterol Ester Transfer Protein gene (CETP TAQ1B), (3) Platelet aggregation: alpha and beta subunits of the platelet GpIIb/GpIIIa integrin complex (GpIIb HPA3 and GpIIIa Pl(A1/A2)), (4) Coagulation fibrinolysis: Plasminogen Activator Tissue (PLAT TPA25 I/D) and Methylenetetrahydrofolate Reductase (MTHFR C677T and A1298C). The samples were genotyped using the polymerase chain reaction followed by restriction enzyme analysis for the RFLPs. No significant difference in allele frequencies between patient and control groups was observed. The occurrence of the MTHFR T677T genotype and of the T677T/A1298A compound genotype is higher in cases (20%) than in the controls (4%). Odds ratio seems to indicate that individuals with the MTHFR T677T genotype and the T677T/A1298A compound genotype had a 6-fold increased risk for developing CAD (ORs = 6; 95% CIs = 1.96-18.28) suggesting a possible association of MTHFR C677T with the risk of CAD in Corsican population.

摘要

我们在100名经血管造影证实患有冠心病(CAD)的无亲缘关系个体以及100名来自法国科西嘉岛中部地区的无亲缘关系健康献血者中,对7个标记物的频率进行了研究。所分析的7种多态性选自6个候选基因,这些基因参与:(1)肾素-血管紧张素系统:血管紧张素转换酶(ACE I/D);(2)脂质代谢:胆固醇酯转运蛋白基因(CETP TAQ1B);(3)血小板聚集:血小板糖蛋白IIb/糖蛋白IIIa整合素复合物的α和β亚基(GpIIb HPA3和GpIIIa Pl(A1/A2));(4)凝血纤溶:组织型纤溶酶原激活物(PLAT TPA25 I/D)以及亚甲基四氢叶酸还原酶(MTHFR C677T和A1298C)。使用聚合酶链反应对样本进行基因分型,随后对限制性片段长度多态性进行酶切分析。未观察到患者组和对照组之间等位基因频率存在显著差异。病例组中MTHFR T677T基因型和T677T/A1298A复合基因型的发生率(20%)高于对照组(4%)。优势比似乎表明,具有MTHFR T677T基因型和T677T/A1298A复合基因型的个体患CAD的风险增加了6倍(ORs = 6;95%置信区间 = 1.96 - 18.28),这表明在科西嘉人群中MTHFR C677T与CAD风险可能存在关联。

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