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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Association of insertion–deletion polymorphism of ACE gene and Alzheimer’s disease in Egyptian patients
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Association of insertion–deletion polymorphism of ACE gene and Alzheimer’s disease in Egyptian patients

机译：埃及患者ACE基因插入缺失多态性与阿尔茨海默氏病的关系

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Introduction Alzheimer’s disease (AD) is a progressive, neurodegenerative disease. Many studies proposed an association of the insertion (I)/deletion (D) polymorphism (indel) in intron 16 of the gene for angiotensin I-converting enzyme (ACE) on chromosome 17q23 with Alzheimer’s disease. ACE indel and related haplotypes associated with AD risk have reduced plasma ACE whereas protective genotypes have elevated ACE. Object To investigate whether there is a correlation between polymorphisms of the ACE I/D locus gene and AD in Egyptian patients and to determine whether there is a difference in ACE activity in the plasma of clinically diagnosed AD patients. Methods Subjects of this study are 84 dementia patients diagnosed as having Alzheimer’s disease, 45 males and 39 females aged 65±7years from the Geriatric Department at Ain-Shams University Hospitals and 86 individuals as non dementia controls, 44 males and 42 females aged 63±6years. All subjects were genotyped for the common insertion/deletion polymorphisms for ACE gene locus, and ACE plasma activity assay was measured for AD patients. Results There was statistically significant difference in the frequency of the ACE insertion/deletion alleles between the cases and controls where the I allele distribution in AD cases and controls was 74% vs. 15%, and the I/I genotype frequency was 60% vs. 5%, respectively. They both reached a statistical significance range (I allele frequency: OR=3.714, 95% CI 1.311–10.523, p <0.01; I/I genotype frequency: OR=3.18 95% CI 2.33–4.33, p <0.01). But no significant difference in ACE plasma level was found between different genotypes in our AD patients. Conclusions Our present study supports the hypothesis of implication (I allele) of ACE gene polymorphism in the development of AD. On the other hand, we did not find significant difference in plasma ACE activities when compared with different studied genotypes.
机译：简介阿尔茨海默氏病（AD）是一种进行性神经退行性疾病。许多研究提出17q23号染色体上血管紧张素I转换酶（ACE）基因内含子16的插入（I）/缺失（D）多态性（indel）与阿尔茨海默氏病相关。与AD风险相关的ACE indel和相关单倍型可降低血浆ACE，而保护基因型可提高ACE。目的研究埃及患者ACE I / D基因座基因多态性与AD之间是否存在相关性，并确定临床诊断AD患者血浆中ACE活性是否存在差异。方法本研究的受试者为84名男性和女性，来自Ain-Shams University Hospitals老年医学部门的65名被诊断患有阿尔茨海默病的老年痴呆症患者，男45例，女39例，年龄65±7岁，非痴呆对照者86例，男44例，女42例，年龄63± 6年对所有受试者进行ACE基因基因座常见插入/缺失多态性的基因分型，并对AD患者进行ACE血浆活性测定。结果ACE插入/缺失等位基因频率在病例与对照组之间存在统计学差异，其中AD病例和对照组的I等位基因分布分别为74％和15％，I / I基因型频率为60％vs。分别为5％。他们两个都达到统计学显着性范围（I等位基因频率：OR = 3.714，95％CI 1.311–10.523，p <0.01; I / I基因型频率：OR = 3.18 95％CI 2.33–4.33，p <0.01）。但是在我们的AD患者中，不同基因型之间的ACE血浆水平没有发现显着差异。结论我们的研究支持ACE基因多态性与AD发展有关的假说。另一方面，与不同的研究基因型相比，我们并未发现血浆ACE活性有显着差异。

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