中国神经再生研究(英文版)

中国神经再生研究(英文版) ›› 2013, Vol. 8 ›› Issue (8): 754-759.doi: 10.3969/j.issn.1673-5374.2013.08.010

• 原著:退行性病与再生 • 上一篇    下一篇

SLC26A4基因多态性参与中国北方汉族晚发型阿尔茨海默病？

  

  • 收稿日期:2012-08-02 修回日期:2012-11-10 出版日期:2013-03-15 发布日期:2013-03-15

SLC26A4 gene polymorphism and late-onset Alzheimer’s disease in a Han Chinese population from Qingdao, China

Jifang Zhang1, 2, Yantuan Li1   

  1. 1 College of Medicine and Pharmaceutics, Ocean University of China, Qingdao 266003, Shandong Province, China
    2 Department of Neurosurgery, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao 266071, Shandong Province, China
  • Received:2012-08-02 Revised:2012-11-10 Online:2013-03-15 Published:2013-03-15
  • Contact: Jifang Zhang☆, M.D., Associate professor, College of Medicine and Pharmaceutics, Ocean University of China, Qingdao 266003, Shandong Province, China; Department of Neurosurgery, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao 266071, Shandong Province, China, zhjfqd@126.com.

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摘要：

近期一项大规模的全基因关联研究发现SLC26A4基因rs2072064多态性位点与高加索人群晚发型阿尔茨海默病的发病风险有关。实验选取599例中国青岛汉族晚发型阿尔茨海默病患者和598例年龄和性别相匹配的健康对照，利用PCR-连接酶技术检测发现晚发型阿尔茨海默病患者SLC26A4基因rs2072064多态性位点的基因频率和等位基因频率出现明显异常，其中等位基因型A显著降低晚发型阿尔茨海默病的发病风险。但是经晚发型阿尔茨海默病易感性基因载脂蛋白Eε4分层后，仅在非携带载脂蛋白Eε4基因晚发型阿尔茨海默病患者和健康对照者SLC26A4基因型和等位基因型频率存在差异。Logistic回归分析发现，在校正性别，年龄和载脂蛋白Eε4携带状态等因素后，该位点仍与晚发型阿尔茨海默病的发病风险显著相关。说明SLC26A4基因为中国北方汉族青岛地区人群晚发型阿尔茨海默病的易感基因。

关键词: 神经再生, 神经退行性变, 晚发型阿尔茨海默病, SLC26A4基因, rs2072064多态性位点, 多态性, 基因关联, 汉族, 载脂蛋白E

Abstract:

In a recent genome-wide association study, the SLC26A4 gene rs2072064 polymorphism was found to be associated with late-onset Alzheimer’s disease in Caucasians. Here, we investigated this association in a large Northern Han Chinese cohort consisting of 599 sporadic late-onset Alzheimer’s disease patients and 598 healthy controls matched for sex and age in a Northern Han Chinese population from Qingdao, China. Genotyping by the polymerase chain reaction-ligase detection reaction revealed that there were significant differences in the genotype (P = 0.017) and allele (P = 0.007) frequencies of the rs2072064 polymorphism between late-onset Alzheimer’s disease patients and controls. The A allele of this polymorphism was significantly associated with a reduced risk of late-onset Alzheimer’s disease (odds ratio (OR) = 0.792, 95% confidence interval (CI) = 0.670–0.937, P = 0.007). When the data were stratified by the apolipoprotein E ε4 status, there was a significant difference only among apolipoprotein E ε4 non-carriers (genotypic P = 0.001, allelic P = 0.001). Furthermore, the association between rs2072064 and late-onset Alzheimer’s disease remained significant by logistic regression analysis after adjustment for age, gender, and the apolipoprotein E ε4 carrier status (dominant model: OR = 0.787, 95% CI = 0.619–1.000, P = 0.050; recessive model: OR = 0.655, 95% CI = 0.448–0.959, P = 0.030; additive model: OR = 0.792, 95% CI = 0.661–0.950, P = 0.012). These findings suggest that SLC26A4 is a susceptibility gene for late-onset Alzheimer’s disease in a Northern Han Chinese population from the Qingdao area.

Key words: neural regeneration, neurodegenerative diseases, late-onset Alzheimer’s disease, SLC26A4, rs2072064, polymorphism, genetic association, Han Chinese population, apolipoprotein E, neuroregeneration