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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Null genetic risk of ACE gene polymorphisms with nephropathy in type 1 diabetes among Egyptian population
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Null genetic risk of ACE gene polymorphisms with nephropathy in type 1 diabetes among Egyptian population

机译：埃及人群中1型糖尿病肾病 ACE 基因多态性的零遗传风险

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Reported to date, strong evidence exists in multiple studies for genetic predisposing in the development of diabetic nephropathy, and no studies addressed this issue among Egyptian population. The results of angiotensin converting enzyme gene (ACE) in the susceptibility to nephropathy in type 1 diabetes with nephropathy are conflicting. We aim to identify the associations of two ACE gene polymorphisms ( Pst I, A>G substitution and a 287-bp insertion/deletion) with nephropathy in type 1 diabetes in Egyptian children/adolescents. Our case-control study contained 140 diabetic individuals; 80 diabetic with nephropathy as cases, and 60 diabetic subjects without nephropathy as control group. Amplified DNA from peripheral leucocytes/buccal mucosa was genotyped for using polymerase chain reaction and enzymatic assay. We found no significant differences in the distribution of ACE insertion/deletion and Pst I genotypes or allele frequencies were observed between the examined groups. Frequencies of Pst I–indel haplotypes were similar in all of our study groups. In both cases and control subjects, ACE activity and microalbuminuria were highest among D/D homozygotes and lowest in I/I homozygotes, while a dissimilar result was seen in Pst I polymorphism. Our findings in Egyptian population strongly conclude that there is no association between the ACE gene I/D and Pst I polymorphisms with nephropathy in type 1 diabetes.
机译：迄今为止，在糖尿病肾病发展中的遗传易感性的多项研究中，有强有力的证据，并且埃及人群中没有针对该问题的研究。血管紧张素转换酶基因（ACE）在患有肾病的1型糖尿病中易患肾病的结果相互矛盾。我们旨在鉴定埃及儿童/青少年中两种ACE基因多态性（Pst I，A> G替代和287 bp插入/缺失）与肾病的关系。我们的病例对照研究包括140名糖尿病患者; 80例患有肾病的糖尿病患者和60例无肾病的糖尿病患者作为对照组。使用聚合酶链反应和酶促测定对来自外周白细胞/颊黏膜的扩增DNA进行基因分型。我们发现在检查组之间没有观察到ACE插入/缺失的分布和Pst I基因型或等位基因频率的显着差异。在我们所有的研究组中，Pst I–indel单倍型的频率相似。在这两种情况和对照组中，ACE活性和微量白蛋白尿在D / D纯合子中最高，而在I / I纯合子中最低，而在Pst I多态性中观察到不同的结果。我们在埃及人群中的发现强烈得出结论，即ACE基因I / D和Pst I多态性与1型糖尿病肾病之间没有关联。

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