CLOCK 基因 3111T/C C>T 多态性与中国人群阿尔茨海默病易感性相关。
The polymorphism of CLOCK gene 3111T/C C>T is associated with susceptibility of Alzheimer disease in Chinese population.
机构信息
From the *Key Laboratory of Chronobiology of Health Ministry, Basic and Forensic School, Sichuan University, Chengdu; †Department of Oncology, The Affiliated Hospital of North Sichuan Medical College, Nanchong; and ‡Key Laboratory of Biological Effect of Physical Field and Instrument of Sichuan Provincial Department of Education and §Department of Electronic Engineering, Chengdu University of Information Technology, Chengdu, Sichuan; and ∥Department of Geriatrics, The Third Hospital of Mian Yang, Mian Yang, China.
出版信息
J Investig Med. 2013 Oct;61(7):1084-7. doi: 10.2310/JIM.0b013e31829f91c0.
OBJECTIVES
In the present study, it was examined whether polymorphism of circadian locomotor output cycle kaput (CLOCK) gene 3111T/C was associated with susceptibility of Alzheimer disease (AD).
METHODS
This study was conducted using a case-control method. Genotypes of apolipoprotein E (APOE e4) and CLOCK gene 3111T/C were determined by restriction fragment length polymorphism method and TaqMan assay method, respectively.
RESULTS
In this study, we gathered 296 unrelated AD patients and 423 control subjects. Both in the whole sample and APOE e4 noncarriers, prevalence of C carriers in CLOCK gene 3111T/C in AD patients was significantly higher than that in control subjects (in the whole sample: χ = 37.615, P < 0.0001; in APOE e4 noncarriers: χ = 46.809, P < 0.0001). However, among APOE e4 carriers, prevalence of C carriers in CLOCK gene 3111T/C between patients and control subjects presents nonsignificant difference (χ = 0.812, P = 0.451).
CONCLUSIONS
Among APOE e4 noncarriers, C carriers in CLOCK gene 3111T/C were associated with a high susceptibility of AD, but among APOE e4 carriers, the functional polymorphism of CLOCK gene 3111T/C was not associated with the susceptibility of AD.
目的
本研究旨在探讨生物钟输出周期关键基因（CLOCK）3111T/C 多态性是否与阿尔茨海默病（AD）易感性相关。
方法
本研究采用病例对照方法。采用限制性片段长度多态性法和 TaqMan 法分别检测载脂蛋白 E（APOE e4）和 CLOCK 基因 3111T/C 的基因型。
结果
本研究共纳入 296 例 AD 患者和 423 例对照。在整个样本和 APOE e4 非携带者中，AD 患者 CLOCK 基因 3111T/C 中的 C 携带者的患病率明显高于对照组（在整个样本中：χ=37.615，P<0.0001；在 APOE e4 非携带者中：χ=46.809，P<0.0001）。然而，在 APOE e4 携带者中，CLOCK 基因 3111T/C 中的 C 携带者在患者和对照组之间的患病率无显著差异（χ=0.812，P=0.451）。
结论
在 APOE e4 非携带者中，CLOCK 基因 3111T/C 的 C 携带者与 AD 的高易感性相关，但在 APOE e4 携带者中，CLOCK 基因 3111T/C 的功能多态性与 AD 的易感性无关。
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