Smach Mohamed Ali, Edziri Hayet, Charfeddine Bassem, Ben Othman Leila, Lammouchi Turkia, Ltaief Afef, Nafati Souhir, Dridi Hedi, Bennamou Soufien, Limem Khalifa
Department of Biochemistry, Faculty of Medicine of Sousse, Tunisia.
Dement Geriatr Cogn Dis Extra. 2011 Jan;1(1):249-57. doi: 10.1159/000329910. Epub 2012 Jan 17.
Apolipoprotein A1 (apoA1) is the major apolipoprotein constituent of the high-density lipoprotein (HDL) and is involved in reverse cholesterol transport. Variation in the apoA1 gene might influence the function of the protein and, thus, brain cholesterol metabolism, leading to an increased risk for Alzheimer's disease (AD).
In the current report, we investigated the role of the functional apoA1 polymorphism (-75 G/A) as a genetic risk factor for AD in a Tunisian population.
173 AD patients and 150 healthy controls were studied.
No association was found between this genetic variation in apoA1 gene and the risk of AD. The presence of the (-75 G/A) A allele appeared, however, to be associated with lower levels of cerebrospinal fluid Aβ42 and HDL cholesterol levels in sera.
Our data support the observation that apoA1 polymorphism influences cholesterol metabolism and Aβ42 deposition in the brain.
载脂蛋白A1（apoA1）是高密度脂蛋白（HDL）的主要载脂蛋白成分，参与逆向胆固醇转运。apoA1基因的变异可能影响该蛋白的功能，进而影响脑胆固醇代谢，增加患阿尔茨海默病（AD）的风险。
在本报告中，我们研究了功能性apoA1多态性（-75 G/A）作为突尼斯人群AD遗传危险因素的作用。
对173例AD患者和150例健康对照进行了研究。
未发现apoA1基因的这种遗传变异与AD风险之间存在关联。然而，（-75 G/A）A等位基因的存在似乎与脑脊液Aβ42水平降低和血清HDL胆固醇水平降低有关。
我们的数据支持apoA1多态性影响脑内胆固醇代谢和Aβ42沉积这一观察结果。
