Genetic variation in the cholesterol 24-hydroxylase (CYP46) gene and the risk of Alzheimer's disease
Genetic variation in the cholesterol 24-hydroxylase (CYP46) gene and the risk of Alzheimer's disease
复制标题
DOI：
10.1016/s0304-3940(02)00443-3
复制
发表时间：
2002-08-02
影响因子：
2.5
通讯作者：
Kamboh, MI
中科院分区：
文献类型：
--
作者：
Desai, P;DeKosky, ST;Kamboh, MI
阿尔茨海默病（AD）是一种复杂的多因素疾病，许多遗传和环境因素与疾病的发病和病理有关。越来越多的证据表明脑胆固醇周转与AD之间存在联系。CYP 46基因编码胆固醇24-羟化酶，该酶在脑胆固醇周转中起关键作用。CYP 46基因内含子2（T -> C）的多态性与AD的发病风险有关。在本研究中，我们在美国白色人（434例病例，401名对照）和非裔美国人（54例病例，61名对照）队列中检查了这种CYP 46多态性与散发性迟发性AD（LOAD）的相关性。CYP 46多态性与LOAD之间未观察到显著相关性。当数据分层载脂蛋白E*4携带者状态，没有观察到的情况下，与对照组之间的CYP 46单核苷酸多态性的显着差异。此外，当按是否存在α 1-抗糜蛋白酶 *A等位基因分层时，未观察到基因型或等位基因频率的显著差异。我们的数据表明，在我们的样本中，CYP 46内含子2多态性不影响AD的风险。(C)2002年由Elsevier Science爱尔兰有限公司出版。
Alzheimer's disease (AD) is a complex, multifactorial disorder, with many genetic and environmental factors implicated in disease onset and pathology. Increasing evidence points to a link between brain cholesterol turnover and AD. The CYP46 gene encodes for the enzyme, cholesterol 24-hydroxylase, which plays a key role in brain cholesterol turnover. A polymorphism in Intron 2 (T --> C) in the CYP46 gene has recently been reported to be associated with the risk of AD. In the present study, we examined the association of this CYP46 polymorphism with sporadic late-onset AD (LOAD) in American White (434 cases, 401 controls) and African American (54 cases, 61 controls) cohorts. No significant association was observed between the CYP46 polymorphim and LOAD. When the data were stratified by the apolipoprotein E*4 carrier status, no significant difference was observed between cases and controls for the CYP46 single nucleotide polymorphism. In addition, no significant difference in genotype or allele frequency was observed when stratified by the presence or absence of the alpha1-antichymotrypsin*A allele. Our data indicate that the Intron 2 polymorphism of CYP46 does not affect the risk of AD in our sample. (C) 2002 Published by Elsevier Science Ireland Ltd.