中国神经再生研究(英文版)

中国神经再生研究(英文版) ›› 2022, Vol. 17 ›› Issue (3): 682-689.doi: 10.4103/1673-5374.321000

• 原著:脑损伤修复保护与再生 • 上一篇    下一篇

GBA、SNCA和VPS35  3种基因突变与中国汉族人群阿尔茨海默病无关：病例-对照研究

  

  • 出版日期:2022-03-15 发布日期:2021-10-15

Mutations in GBA, SNCA, and VPS35 are not associated with Alzheimer’s disease in a Chinese population: a case-control study

Ya-Fei Wen1, Xue-Wen Xiao1, Lu Zhou1, Ya-Ling Jiang1, Yuan Zhu1, Li-Na Guo1, Xin Wang1, Hui Liu1, Ya-Fang Zhou2, 3, 4, 5, 6, Jun-Ling Wang1, 3, 4, 5, 6, Xin-Xin Liao2, 3, 4, 5, 6, Lu Shen1, 3, 4, 5, 6, 7, Bin Jiao1, 3, 4, 5, 6, *#br#   

  1. 1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, China; 2Department of Geriatrics Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, China; 3National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, Hunan Province, China; 4Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, Hunan Province,  China; 5Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, Hunan Province, China; 6Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan Province, China; 7Key Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan Province, Changsha, Hunan Province, China
  • Online:2022-03-15 Published:2021-10-15
  • Contact: Bin Jiao, MD, PhD, jbin0911@163.com.
  • Supported by:
    This study was supported by the National Natural Science Foundation of China, Nos. 81971029 (to LS) and 82071216 (to BJ).

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摘要：

SNCA，GBA和VPS35是3种常见的帕金森病相关致病基因，既往的研究表明这三种基因与阿尔茨海默病可能存在潜在的关联，但这些基因是否会增加中国人群罹患阿尔茨海默病的风险尚不清楚。此次病例-对照研究采用目标区域捕获靶向测序芯片技术对中国汉族人群721 例阿尔茨海默病患者和 365 例正常对照进行帕金森病相关致病基因SNCA，GBA和VPS353的外显子及其临近区域靶向捕获并测序。结果可见，这3种基因无论是常见突变还是罕见突变，均与中国阿尔茨海默病人群不相关。表明GBA、SNCA和VPS35  3种基因突变在中国人群阿尔茨海默病的遗传易感性中可能不起作用。实验于2016年3月9日经中南大学湘雅医院伦理委员会批准（批准号201603198）。

https://orcid.org/0000-0001-8015-8040 (Ya-Fei Wen); https://orcid.org/0000-0002-6337-0784 (Bin Jiao)

关键词: 阿尔茨海默病, 帕金森病, GBA, SNCA, VPS35, 常见突变, 罕见突变, 中国人群

Abstract: 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).

Key words: Alzheimer’s disease, Chinese population, common variants, GBA, Parkinson’s disease, rare variants, SNCA, VPS35

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