Neural Regeneration Research ›› 2022, Vol. 17 ›› Issue (3): 682-689.doi: 10.4103/1673-5374.321000

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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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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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