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
{"title":"Rare <i>SV2C</i> coding variants in Parkinson's disease risk.","authors":"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","doi":"10.1177/1877718X241300298","DOIUrl":null,"url":null,"abstract":"<p><p>Genome-wide association studies have identified <i>SV2C</i> 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 <i>SV2C</i> 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 <i>SV2C</i> do not play a major role in PD susceptibility in East Asia.</p>","PeriodicalId":16660,"journal":{"name":"Journal of Parkinson's disease","volume":" ","pages":"66-71"},"PeriodicalIF":5.0000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Parkinson's disease","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/1877718X241300298","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/23 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
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.
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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