CLOCK 基因 rs4580704 C>G 多态性与中国人群阿尔茨海默病易感性相关。

Polymorphism of CLOCK gene rs 4580704 C > G is associated with susceptibility of Alzheimer's disease in a Chinese population.

机构信息

Department of Neurosurgery, West China Hospital, Sichuan University, Sichuan, China.

出版信息

Arch Med Res. 2013 Apr;44(3):203-7. doi: 10.1016/j.arcmed.2013.01.002. Epub 2013 Jan 26.

DOI:10.1016/j.arcmed.2013.01.002

PMID:23357097

Abstract

BACKGROUND AND AIMS

The association of polymorphism of circadian locomotor output cycle kaput (CLOCK) gene rs 4580704 C/G with susceptibility of Alzheimer's disease (AD) was examined in the present study.

METHODS

This was a case/control study and investigated the association of polymorphism of CLOCK gene rs 4580704 C/G with susceptibility of AD. Genotypes of apolipoprotein E (APOE) and CLOCK gene rs 4580704 C/G were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) detection method.

RESULTS

This study was comprised of 296 unrelated AD patients and 423 controls. We performed an analysis the association of polymorphism of CLOCK gene rs 4580704 C/G with susceptibility of AD. In the whole sample or APOEε4 noncarriers, prevalence of C carriers in CLOCK gene rs 4580704 in AD patients was significantly higher than in controls (in the whole sample: χ(2) = 13.773, p <0.0001; in APOEε4 noncarriers: χ(2) = 51.588, p <0.0001). However, among APOEε4 carriers, prevalence of C carriers in CLOCK gene rs 4580704 between patients and controls was not statistically significant (χ(2) = 0.753, p = 0.386).

CONCLUSIONS

Among APOEε4 noncarriers, C carriers in CLOCK gene rs 4580704 were associated with a high susceptibility of AD; however, among APOEε4 carriers the functional polymorphism of clock gene rs 4580704 C/G was not associated with AD susceptibility.

摘要

背景与目的

本研究旨在探讨生物钟输出周期关键基因（CLOCK）rs4580704 C/G 多态性与阿尔茨海默病（AD）易感性的关系。

方法

本研究采用病例对照研究方法，探讨 CLOCK 基因 rs4580704 C/G 多态性与 AD 易感性的关系。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测方法确定载脂蛋白 E（APOE）和 CLOCK 基因 rs4580704 C/G 基因型。

结果

本研究共纳入 296 例无关 AD 患者和 423 例对照。我们分析了 CLOCK 基因 rs4580704 多态性与 AD 易感性的关系。在整个样本或 APOEε4 非携带者中，AD 患者 CLOCK 基因 rs4580704 的 C 携带者频率明显高于对照组（在整个样本中：χ²=13.773，p<0.0001；在 APOEε4 非携带者中：χ²=51.588，p<0.0001）。然而，在 APOEε4 携带者中，CLOCK 基因 rs4580704 的 C 携带者频率在患者和对照组之间无统计学意义（χ²=0.753，p=0.386）。