在中国人群中，[基因名称]、[基因名称]和[基因名称]的突变与阿尔茨海默病无关：一项病例对照研究。 （注：原文中基因名称未给出具体内容，这里用[基因名称]表示）
Mutations in , and are not associated with Alzheimer's disease in a Chinese population: a case-control study.
作者信息
Wen Ya-Fei, Xiao Xue-Wen, Zhou Lu, Jiang Ya-Ling, Zhu Yuan, Guo Li-Na, Wang Xin, Liu Hui, Zhou Ya-Fang, Wang Jun-Ling, Liao Xin-Xin, Shen Lu, Jiao Bin
机构信息
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, China.
Department of Geriatrics Neurology, Xiangya Hospital; National Clinical Research Center for Geriatric Disorders; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan Province, China.
出版信息
Neural Regen Res. 2022 Mar;17(3):682-689. doi: 10.4103/1673-5374.321000.
SNCA, GBA, and VPS35 are three common genes associated with Parkinson's disease. Previous studies have shown that these three genes may be associated with Alzheimer's disease (AD). However, it is unclear whether these genes increase the risk of AD in Chinese populations. In this study, we used a targeted gene sequencing panel to screen all the exon regions and the nearby sequences of GBA, SNCA, and VPS35 in a cohort including 721 AD patients and 365 healthy controls from China. The results revealed that neither common variants nor rare variants of these three genes were associated with AD in a Chinese population. These findings suggest that the mutations in GBA, SNCA, and VPS35 are not likely to play an important role in the genetic susceptibility to AD in Chinese populations. The study was approved by the Ethics Committee of Xiangya Hospital, Central South University, China on March 9, 2016 (approval No. 201603198).
α-突触核蛋白（SNCA）、葡萄糖脑苷脂酶（GBA）和溶酶体蛋白分选相关蛋白35（VPS35）是与帕金森病相关的三个常见基因。先前的研究表明，这三个基因可能与阿尔茨海默病（AD）有关。然而，这些基因是否会增加中国人群患AD的风险尚不清楚。在本研究中，我们使用靶向基因测序panel对来自中国的721例AD患者和365例健康对照组成的队列中的GBA、SNCA和VPS35的所有外显子区域及其附近序列进行了筛查。结果显示，这三个基因的常见变异和罕见变异均与中国人群的AD无关。这些发现表明，GBA、SNCA和VPS35的突变不太可能在中国人群AD的遗传易感性中起重要作用。该研究于2016年3月9日获得中国中南大学湘雅医院伦理委员会批准（批准号：201603198）。
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