Zhao Fa-Guo, Wang Yin-Hua, Yang Jing-Fang, Ma Qiu-Lan, Tang Zhe, Dong Xiu-Min, Chan Piu
Department of Neurology, First Hospital of Peking University, Beijing, China.
Neurosci Lett. 2005 Nov 4;388(1):17-20. doi: 10.1016/j.neulet.2005.06.020.
There is a compelling body of evidence indicating an association between cholesterol and Alzheimer's disease (AD). Acyl-coenzyme A: cholesterol acyltransferase 1 (ACAT1), an endoplasmic-reticulum-resident enzyme that catalyses the formation of cholesteryl esters (CEs) from cholesterol and long-chain fatty acids, modulates the generation of beta amyloid peptide (Abeta). A single nucleotide polymorphism rs1044925 in the sterol O-acyltransferase 1 (SOAT1), the gene encoding ACAT1, has been reported to be association with an increased risk for sporadic AD (SAD) in European population. In the present study, we examined the association of the SOAT1 rs1044925 polymorphism with SAD in our northern Han-Chinese (107 cases, 118 age and gender-matched controls) sample using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. There was no genotypic (chi(2)=0.030, OR 0.942, 95% CI=0.478-1.857) or allelic (chi(2)=0.021, OR 0.955, 95% CI=0.508-1.794) association between SAD and controls, even when the data were stratified by APOEvarepsilon4 carrier status. Our results indicate that the polymorphism rs1044925 in the 3'UTR of SOAT1 gene does not affect the risk of SAD in the northern Han-Chinese.
有大量令人信服的证据表明胆固醇与阿尔茨海默病(AD)之间存在关联。酰基辅酶A:胆固醇酰基转移酶1(ACAT1)是一种内质网驻留酶,可催化胆固醇和长链脂肪酸形成胆固醇酯(CEs),它能调节β淀粉样肽(Aβ)的生成。据报道,编码ACAT1的基因固醇O-酰基转移酶1(SOAT1)中的单核苷酸多态性rs1044925与欧洲人群散发性AD(SAD)风险增加有关。在本研究中,我们使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析,在我们的北方汉族样本(107例患者,118例年龄和性别匹配的对照)中检测了SOAT1 rs1044925多态性与SAD的关联。SAD与对照组之间不存在基因型(χ² = 0.030,OR 0.942,95% CI = 0.478 - 1.857)或等位基因(χ² = 0.021,OR 0.955,95% CI = 0.508 - 1.794)关联,即使数据按APOEε4携带者状态分层也是如此。我们的结果表明,SOAT1基因3'UTR中的多态性rs1044925不会影响北方汉族人群患SAD的风险。