Rare SV2C coding variants in Parkinson's disease risk.

IF 4 3区 医学 Q2 NEUROSCIENCES
Journal of Parkinson's disease Pub Date : 2025-02-01 Epub Date: 2025-01-23 DOI:10.1177/1877718X241300298
Chu Hua Chang, Elaine Guo Yan Chew, Michelle Mulan Lian, Moses Tandiono, Zheng Li, Sun Ju Chung, Louis Cs Tan, Wing-Lok Au, Kumar M Prakash, Azlina Ahmad-Annuar, Ai Huey Tan, Vincent Mok, Anne Yy Chan, Juei-Jueng Lin, Beom S Jeon, Chiea Chuen Khor, Shen-Yang Lim, Eng-King Tan, Jia Nee Foo
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引用次数: 0

Abstract

Genome-wide association studies have identified SV2C as a Parkinson's disease (PD) risk locus, with a common missense variant p.Asp543Asn in the synaptic vesicle glycoprotein 2C (SV2C) protein significantly associated with PD. We examined if other rare SV2C variants also influence PD risk. We analyzed sequencing data of 9810 East Asian individuals comprising 4298 patients and 5512 controls and identified 55 rare nonsynonymous variants. There was no significant association of rare nonsynonymous or loss-of-function variants with PD. Our findings show that besides p.Asp543Asn, other rare coding variants in SV2C do not play a major role in PD susceptibility in East Asia.

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来源期刊
CiteScore
8.40
自引率
5.80%
发文量
338
审稿时长
>12 weeks
期刊介绍: The Journal of Parkinson''s Disease (JPD) publishes original research in basic science, translational research and clinical medicine in Parkinson’s disease in cooperation with the Journal of Alzheimer''s Disease. It features a first class Editorial Board and provides rigorous peer review and rapid online publication.
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