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

作　　者：Ya-Fei Wen Xue-Wen Xiao Lu Zhou Ya-Ling Jiang Yuan Zhu Li-Na Guo Xin Wang Hui Liu Ya-Fang Zhou Jun-Ling Wang Xin-Xin Liao Lu Shen Bin Jiao 

机构地区：[1]Department of Neurology,Xiangya Hospital,Central South University,Changsha,Hunan Province,China [2]Department of Geriatrics Neurology,Xiangya Hospital,Central South University,Changsha,Hunan Province,China [3]National Clinical Research Center for Geriatric Disorders,Central South University,Changsha,Hunan Province,China [4]Engineering Research Center of Hunan Province in Cognitive Impairment Disorders,Central South University,Changsha,Hunan Province,China [5]Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases,Changsha,Hunan Province,China [6]Key Laboratory of Hunan Province in Neurodegenerative Disorders,Central South University,Changsha,Hunan Province,China [7]Key Laboratory of Organ Injury,Aging and Regenerative Medicine of Hunan Province,Changsha,Hunan Province,China

出　　处：《Neural Regeneration Research》2022年第3期682-689,共8页中国神经再生研究（英文版）

基　　金：supported by the National Natural Science Foundation of China,Nos.81971029 (to LS) and 82071216 (to BJ)。

摘　　要：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).

关 键 词：Alzheimer's disease Chinese population common variants GBA Parkinson's disease rare variants SNCA VPS35 

分 类 号：R446.1[医药卫生—诊断学] R741[医药卫生—临床医学]