Lamsa R, Helisalmi S, Herukka S-K, Tapiola T, Pirttila T, Vepsalainen S, Hiltunen M, Soininen H
Unit of Neurology, Clinical Department, Brain Research Unit, Clinical Research Center, Mediteknia, University of Kuopio, Kuopio, Finland.
Dement Geriatr Cogn Disord. 2007;24(2):146-50. doi: 10.1159/000105164. Epub 2007 Jul 5.
In Alzheimer's disease (AD) the beta-amyloid precursor protein is excessively cleaved into Abeta(42), causing the abundant amyloid plaque loads in affected brain areas. Sterol O-acyltransferase 1 (SOAT1) has been found to regulate the production of beta-amyloid precursor protein.
We genotyped 4 SOAT1 single nucleotide polymorphism (SNP) sites (rs2247071, rs2862616, rs3753526 and rs1044925) in 410 Finnish AD cases and 455 controls and conducted a single allele and genotypic distribution comparison as well as estimating the haplotype frequencies between cases and controls and the level of biomarkers in genotype and haplotype carriers.
The CC genotype of rs2247071 was overrepresented in the AD cases (OR = 1.38, 95% CI = 1.01-1.89, p = 0.043, Bonferroni corrected p = 0.172 with 4 tests) independent of gender, age and APOE epsilon4 allele carrier status. We did not find any significant differences between Abeta(42), tau or ptau levels in different allele, genotype or haplotype carrier cases.
Our findings suggest that SOAT1 gene may possibly be only a minor risk factor in AD.
在阿尔茨海默病（AD）中，β-淀粉样前体蛋白被过度切割成Aβ（42），导致受影响脑区出现大量淀粉样斑块。已发现固醇O-酰基转移酶1（SOAT1）可调节β-淀粉样前体蛋白的产生。
我们对410例芬兰AD患者和455例对照者的4个SOAT1单核苷酸多态性（SNP）位点（rs2247071、rs2862616、rs3753526和rs1044925）进行基因分型，并进行单等位基因和基因型分布比较，以及估计病例组和对照组之间的单倍型频率，以及基因型和单倍型携带者中生物标志物的水平。
rs2247071的CC基因型在AD患者中过度出现（OR = 1.38，95%CI = 1.01-1.89，p = 0.043，经Bonferroni校正后，4次检验的p = 0.172），且与性别、年龄和APOE ε4等位基因携带者状态无关。我们未发现不同等位基因、基因型或单倍型携带者病例的Aβ（42）、tau或ptau水平存在任何显著差异。
我们的研究结果表明，SOAT1基因可能只是AD中的一个次要风险因素。
