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突尼斯人群中血管紧张素转换酶基因多态性与阿尔茨海默病的关联。

Association between an angiotensin-converting enzyme gene polymorphism and Alzheimer's disease in a Tunisian population.

作者信息

Fekih-Mrissa Najiba, Bedoui Ines, Sayeh Aycha, Derbali Hajer, Mrad Meriem, Mrissa Ridha, Nsiri Brahim

机构信息

Laboratory of Molecular Biology, Department of Hematology, Military Hospital of Tunisia, Mont Fleury, 1008 Tunis, Tunisia.

Department of Neurology, Military Hospital of Tunisia, Montfleury, Tunis, 1008 Tunisia.

出版信息

Ann Gen Psychiatry. 2017 Nov 17;16:41. doi: 10.1186/s12991-017-0164-0. eCollection 2017.

Abstract

BACKGROUND

The angiotensin-converting enzyme gene (ACE) insertion/deletion (I/D or indel) polymorphism has long been linked to Alzheimer's disease (AD), but the interpretation of established data remains controversial. The aim of this study was to determine whether the angiotensin-converting enzyme is associated with the risk of Alzheimer's disease in Tunisian patients.

METHODS

We analyzed the genotype and allele frequency distribution of the ACE I/D gene polymorphism in 60 Tunisian AD patients and 120 healthy controls.

RESULTS

There is a significantly increased risk of AD in carriers of the D/D genotype (51.67% in patients vs. 31.67% in controls;  = .008, OR = 2.32). The D allele was also more frequently found in patients compared with controls (71.67% vs. 56.25%;  = .003, OR = 2.0). Moreover, as assessed by the Mini-Mental State Examination, patient D/D carriers were more frequently found to score in the severe category of dementia (65%) as compared to the moderate category (32%) or mild category (3%).

CONCLUSIONS

The D/D genotype and D allele of the ACE I/D polymorphism were associated with an increased risk in the development of AD in a Tunisian population. Furthermore, at the time of patient evaluation (average age 75 years), patients suffering with severe dementia were found predominantly in D/D carriers and, conversely, the D/D genotype and D allele were more frequently found in AD patients with severe dementia. These preliminary exploratory results should be confirmed in larger studies and further work is required to explore and interpret possible alternative findings in diverse populations.

摘要

背景

血管紧张素转换酶基因(ACE)插入/缺失(I/D或插入缺失)多态性长期以来一直与阿尔茨海默病(AD)相关,但对现有数据的解释仍存在争议。本研究的目的是确定血管紧张素转换酶是否与突尼斯患者患阿尔茨海默病的风险相关。

方法

我们分析了60例突尼斯AD患者和120例健康对照者中ACE I/D基因多态性的基因型和等位基因频率分布。

结果

D/D基因型携带者患AD的风险显著增加(患者中为51.67%,对照中为31.67%;P = 0.008,OR = 2.32)。与对照相比,患者中D等位基因的出现频率也更高(71.67%对56.25%;P = 0.003,OR = 2.0)。此外,通过简易精神状态检查表评估发现,与中度痴呆(32%)或轻度痴呆(3%)类别相比,患者D/D基因型携带者更常处于重度痴呆类别(65%)。

结论

ACE I/D多态性的D/D基因型和D等位基因与突尼斯人群患AD的风险增加相关。此外,在患者评估时(平均年龄75岁),重度痴呆患者主要为D/D基因型携带者,相反,D/D基因型和D等位基因在重度痴呆的AD患者中更为常见。这些初步探索性结果应在更大规模的研究中得到证实,还需要进一步开展工作以探索和解释不同人群中可能的其他发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0205/5693601/5959d22fa2e2/12991_2017_164_Fig1_HTML.jpg

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