GBA1 T369M 与帕金森病--瑞典人群中缺乏相关性的进一步证据。

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders Pub Date : 2024-10-31 DOI:10.1016/j.parkreldis.2024.107191

Kajsa Atterling Brolin , David Bäckström , Joel Wallenius , Ziv Gan-Or , Andreas Puschmann , Oskar Hansson , Maria Swanberg

{"title":"GBA1 T369M 与帕金森病--瑞典人群中缺乏相关性的进一步证据。","authors":"Kajsa Atterling Brolin , David Bäckström , Joel Wallenius , Ziv Gan-Or , Andreas Puschmann , Oskar Hansson , Maria Swanberg","doi":"10.1016/j.parkreldis.2024.107191","DOIUrl":null,"url":null,"abstract":"<div><div>Variants in <em>GBA1</em> are important genetic risk factors in Parkinson's disease (PD). <em>GBA1</em> T369M has been linked to an ∼80 % increased PD risk but the reports are conflicting and the relevance of <em>GBA1</em> variants in different populations varies. A lack of association between T369M and PD in the Swedish population was recently reported but needs further validation. We therefore investigated T369M in 1,808 PD patients and 2,183 controls and our results support that T369M is not a risk factor for PD in the Swedish population.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107191"},"PeriodicalIF":3.1000,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"GBA1 T369M and Parkinson's disease - Further evidence of a lack of association in the Swedish population\",\"authors\":\"Kajsa Atterling Brolin , David Bäckström , Joel Wallenius , Ziv Gan-Or , Andreas Puschmann , Oskar Hansson , Maria Swanberg\",\"doi\":\"10.1016/j.parkreldis.2024.107191\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Variants in <em>GBA1</em> are important genetic risk factors in Parkinson's disease (PD). <em>GBA1</em> T369M has been linked to an ∼80 % increased PD risk but the reports are conflicting and the relevance of <em>GBA1</em> variants in different populations varies. A lack of association between T369M and PD in the Swedish population was recently reported but needs further validation. We therefore investigated T369M in 1,808 PD patients and 2,183 controls and our results support that T369M is not a risk factor for PD in the Swedish population.</div></div>\",\"PeriodicalId\":19970,\"journal\":{\"name\":\"Parkinsonism & related disorders\",\"volume\":\"130 \",\"pages\":\"Article 107191\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2024-10-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Parkinsonism & related disorders\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1353802024012033\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Parkinsonism & related disorders","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1353802024012033","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

摘要

GBA1 变异是帕金森病（PD）的重要遗传风险因素。GBA1 T369M与帕金森病风险增加80%有关，但相关报道相互矛盾，不同人群中GBA1变异的相关性也不尽相同。最近有报道称，在瑞典人群中，T369M 与帕金森病之间没有关联，但这还需要进一步验证。因此，我们对 1808 名帕金森氏症患者和 2183 名对照者中的 T369M 进行了调查，结果表明 T369M 在瑞典人群中不是帕金森氏症的风险因素。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

GBA1 T369M and Parkinson's disease - Further evidence of a lack of association in the Swedish population

Variants in GBA1 are important genetic risk factors in Parkinson's disease (PD). GBA1 T369M has been linked to an ∼80 % increased PD risk but the reports are conflicting and the relevance of GBA1 variants in different populations varies. A lack of association between T369M and PD in the Swedish population was recently reported but needs further validation. We therefore investigated T369M in 1,808 PD patients and 2,183 controls and our results support that T369M is not a risk factor for PD in the Swedish population.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Parkinsonism & related disorders 医学-临床神经学

CiteScore

6.20

自引率

4.90%

发文量

292

审稿时长

39 days

期刊介绍： Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.