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酰基辅酶A:胆固醇酰基转移酶与脑脊液胆固醇水平、脑淀粉样蛋白负荷及阿尔茨海默病风险的遗传关联。

Genetic association of acyl-coenzyme A: cholesterol acyltransferase with cerebrospinal fluid cholesterol levels, brain amyloid load, and risk for Alzheimer's disease.

作者信息

Wollmer M A, Streffer J R, Tsolaki M, Grimaldi L M E, Lütjohann D, Thal D, von Bergmann K, Nitsch R M, Hock C, Papassotiropoulos A

机构信息

Division of Psychiatry Research, University of Zürich, Switzerland.

出版信息

Mol Psychiatry. 2003 Jun;8(6):635-8. doi: 10.1038/sj.mp.4001296.

Abstract

A common polymorphism of the gene encoding acyl-coenzyme A: cholesterol acyltransferase 1 (SOAT1), which is involved in the regulation of beta-amyloid peptide generation, is associated with low brain amyloid load (P=0.03) and with low cerebrospinal fluid levels of cholesterol (P=0.005). This polymorphism of SOAT1 is also associated with reduced risk for Alzheimer's disease in ethnically distinct populations (P=0.0001, odds ratio: 0.6, 95% confidence interval 0.4-0.8).

摘要

编码酰基辅酶A:胆固醇酰基转移酶1(SOAT1)的基因存在一种常见多态性,该酶参与β-淀粉样肽生成的调节,这种多态性与低脑淀粉样蛋白负荷相关(P = 0.03),也与脑脊液中低胆固醇水平相关(P = 0.005)。SOAT1的这种多态性在不同种族人群中还与阿尔茨海默病风险降低相关(P = 0.0001,比值比:0.6,95%置信区间0.4 - 0.8)。

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