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摩洛哥血管紧张素转换酶、亚甲基四氢叶酸还原酶、凝血因子V莱顿、凝血酶原及载脂蛋白E基因多态性的患病率

Prevalence of angiotensin-converting enzyme, methylenetetrahydrofolate reductase, Factor V Leiden, prothrombin and apolipoprotein E gene polymorphisms in Morocco.

作者信息

They-They Thierry Paluku, Hamzi Khalil, Moutawafik Mohamed Taha, Bellayou Hanane, El Messal Mariame, Nadifi Sellama

机构信息

Laboratoire de Génétique Médicale et Pathologie Moléculaire (LGPM), Faculté de Médecine et de Pharmacie-Casablanca, 19 rue Tarik-Ibn-Ziad, Casablanca, Morocco.

出版信息

Ann Hum Biol. 2010 Nov;37(6):767-77. doi: 10.3109/03014461003738850. Epub 2010 Aug 5.

Abstract

BACKGROUND

Evidence of the influence of genetic risk factors on cardiovascular diseases is more or less established. These genetic factors are involved in several pathways affecting blood pressure regulation, blood coagulation, homocysteine and lipid metabolisms.

AIM

We evaluated frequencies of five genetic polymorphisms to assess their informativeness as markers for prospective clinical studies.

SUBJECTS AND METHODS

182 healthy Moroccan subjects were genotyped for ACE I/D by amplification alone and by amplification followed by enzymatic digestion for other polymorphisms.

RESULTS

Allele frequencies of ACE ID, MTHFR C677T were 76.6%, 26.9% for D and T alleles, respectively. APOE polymorphism showed 11.3%, 78.6% and 10.2% for the alleles E2, E3 and E4, respectively. The frequency for FII G20210A polymorphism was around 2.7% for A allele. Our data showed an absence of FVL mutation. Using allele frequencies, genetic distances between Moroccan and other populations revealed an independent variability of these polymorphisms.

CONCLUSION

These values appear to be influenced by findings in European and African peoples, and may be considered in assessing the clinical significance of a predisposition to cardiovascular disease.

摘要

背景

遗传风险因素对心血管疾病影响的证据或多或少已经确立。这些遗传因素涉及影响血压调节、血液凝固、同型半胱氨酸和脂质代谢的多种途径。

目的

我们评估了五种基因多态性的频率,以评估它们作为前瞻性临床研究标志物的信息性。

对象与方法

对182名健康的摩洛哥受试者进行基因分型,ACE I/D仅通过扩增进行,其他多态性通过扩增后酶切进行。

结果

ACE ID、MTHFR C677T的等位基因频率中,D和T等位基因分别为76.6%、26.9%。APOE多态性中,等位基因E2、E3和E4的频率分别为11.3%、78.6%和10.2%。FII G20210A多态性的A等位基因频率约为2.7%。我们的数据显示不存在FVL突变。利用等位基因频率,摩洛哥人与其他人群之间的遗传距离揭示了这些多态性的独立变异性。

结论

这些值似乎受到欧洲人和非洲人研究结果的影响,在评估心血管疾病易感性的临床意义时可能会被考虑。

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