Kölsch Heike, Lütjohann Dieter, Jessen Frank, Von Bergmann Klaus, Schmitz Sandra, Urbach Horst, Maier Wolfgang, Heun Reinhard
Department of Psychiatry, University of Bonn, 53105 Bonn, Germany.
Int J Mol Med. 2006 May;17(5):791-4.
The ATP-binding cassette transporter A1 (ABCA1) mediates reverse cholesterol transport, polymorphisms have been shown to influence the levels of cholesterol and of HDL and the risk of coronary artery disease. Since altered cholesterol metabolism is also involved in Alzheimer's disease (AD), the effects of two ABCA1 polymorphisms (G-395C promoter polymorphism (rs 2246293) and exonic R219K) on the risk of AD in 241 AD patients and 294 non-demented controls, and on CSF cholesterol and 24S-hydroxycholesterol in 74 AD patients and 42 non-demented controls were investigated. None of the investigated ABCA1 polymorphisms influenced the risk of AD. However, the ABCA1 G-395C polymorphism influenced CSF levels of 24S-hydroxycholesterol, but not of cholesterol, whereas the R219K influenced neither CSF levels of 24S-hydroxycholesterol nor cholesterol. Our data support the observation that ABCA1 polymorphisms influence cholesterol metabolism of the brain, but might not act as a major risk factor in AD.
三磷酸腺苷结合盒转运蛋白A1（ABCA1）介导胆固醇逆向转运，研究表明其多态性会影响胆固醇和高密度脂蛋白水平以及冠状动脉疾病风险。由于胆固醇代谢改变也与阿尔茨海默病（AD）有关，因此我们研究了两种ABCA1多态性（G-395C启动子多态性（rs 2246293）和外显子R219K）对241例AD患者和294例非痴呆对照者患AD风险的影响，以及对74例AD患者和42例非痴呆对照者脑脊液中胆固醇和24S-羟基胆固醇水平的影响。所研究的ABCA1多态性均未影响AD风险。然而，ABCA1 G-395C多态性影响脑脊液中24S-羟基胆固醇水平，但不影响胆固醇水平，而R219K既不影响脑脊液中24S-羟基胆固醇水平，也不影响胆固醇水平。我们的数据支持以下观点：ABCA1多态性影响大脑的胆固醇代谢，但可能不是AD的主要危险因素。
