Meta-analysis of the association between C9orf72 repeats and neurodegeneration diseases.

IF 1.8 4区 医学 Q3 GENETICS & HEREDITY Journal of neurogenetics Pub Date : 2024-03-01 Epub Date: 2024-05-20 DOI:10.1080/01677063.2024.2343672
Pingfei Jin, Yong Li, Yao Li
{"title":"Meta-analysis of the association between <i>C9orf72</i> repeats and neurodegeneration diseases.","authors":"Pingfei Jin, Yong Li, Yao Li","doi":"10.1080/01677063.2024.2343672","DOIUrl":null,"url":null,"abstract":"<p><p>To conduct a meta-analysis investigating the relationship between the chromosome 9 open reading frame 72 (<i>C9orf72</i>) GGGGCC (G4C2) and neurodegenerative diseases (NDs), including Alzheimer's disease (AD), Parkinson's disease (PD), multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). We searched the EMBASE, PubMed, Web of Science, and Cochrane databases. Twenty-seven case-control studies were included, comprising 7202 AD, 5856 PD, 644 MSA, 439 PSP, and 477 CBD cases. This study demonstrated that <i>C9orf72</i> repeat expansions (>30) were associated with AD, MSA, PSP, and CBD (AD: OR = 4.88, 95% CI = 2.71-8.78; MSA: OR = 6.98, 95% CI = 1.48-33.01; PSP: OR =10.04, 95% CI = 2.72-37.10; CBD: OR = 28.04, 95% CI = 10.17-77.31). <i>C9orf72</i> intermediate repeat expansions (20-30) were not associated with AD and MSA (AD: OR = 1.16, 95% CI = 0.39-3.45; MSA: OR = 5.65, 95% CI = 0.69-46.19), while <i>C9orf72</i> repeat expansions (>30) were not associated with the risk of PD (OR = 1.51, 95% CI = 0.55-4.17), <i>C9orf72</i> intermediate repeat expansions (20-30) were indeed associated with PD (OR = 2.43, 95% CI = 1.20-4.9). The pathological mechanism of <i>C9orf72</i> G4C2 repeat expansions differs across various NDs due to the varying number of pathogenic expansions. Measuring the number of <i>C9orf72</i> G4C2 repeats may be useful in the early-stage differential diagnosis of various NDs.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":null,"pages":null},"PeriodicalIF":1.8000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of neurogenetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/01677063.2024.2343672","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/20 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

Abstract

To conduct a meta-analysis investigating the relationship between the chromosome 9 open reading frame 72 (C9orf72) GGGGCC (G4C2) and neurodegenerative diseases (NDs), including Alzheimer's disease (AD), Parkinson's disease (PD), multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). We searched the EMBASE, PubMed, Web of Science, and Cochrane databases. Twenty-seven case-control studies were included, comprising 7202 AD, 5856 PD, 644 MSA, 439 PSP, and 477 CBD cases. This study demonstrated that C9orf72 repeat expansions (>30) were associated with AD, MSA, PSP, and CBD (AD: OR = 4.88, 95% CI = 2.71-8.78; MSA: OR = 6.98, 95% CI = 1.48-33.01; PSP: OR =10.04, 95% CI = 2.72-37.10; CBD: OR = 28.04, 95% CI = 10.17-77.31). C9orf72 intermediate repeat expansions (20-30) were not associated with AD and MSA (AD: OR = 1.16, 95% CI = 0.39-3.45; MSA: OR = 5.65, 95% CI = 0.69-46.19), while C9orf72 repeat expansions (>30) were not associated with the risk of PD (OR = 1.51, 95% CI = 0.55-4.17), C9orf72 intermediate repeat expansions (20-30) were indeed associated with PD (OR = 2.43, 95% CI = 1.20-4.9). The pathological mechanism of C9orf72 G4C2 repeat expansions differs across various NDs due to the varying number of pathogenic expansions. Measuring the number of C9orf72 G4C2 repeats may be useful in the early-stage differential diagnosis of various NDs.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
C9orf72重复序列与神经变性疾病相关的元分析。
对 9 号染色体开放阅读框 72 (C9orf72) GGGGCC (G4C2) 与神经退行性疾病(NDs)(包括阿尔茨海默病(AD)、帕金森病(PD)、多系统萎缩(MSA)、进行性核上性麻痹(PSP)和皮质基底变性(CBD))之间的关系进行荟萃分析。我们检索了 EMBASE、PubMed、Web of Science 和 Cochrane 数据库。共纳入 27 项病例对照研究,包括 7202 例 AD、5856 例 PD、644 例 MSA、439 例 PSP 和 477 例 CBD 病例。该研究表明,C9orf72 重复扩增(>30)与 AD、MSA、PSP 和 CBD 相关(AD:OR = 4.88,95% CI = 2.71-8.78;MSA:OR=6.98,95% CI=1.48-33.01;PSP:OR=10.04,95% CI=2.72-37.10;CBD:或 = 28.04,95% CI = 10.17-77.31)。C9orf72 中间重复扩展(20-30)与 AD 和 MSA 无关(AD:OR = 1.16,95% CI = 0.39-3.45;MSA:OR = 5.65,95% CI = 0.69-46.19),而 C9orf72 中间重复扩展(20-30)与 AD 和 MSA 无关(AD:OR = 1.16,95% CI = 0.39-3.45;MSA:OR = 5.65,95% CI = 0.69-46.19)。19),而C9orf72重复扩增(>30)与PD风险无关(OR = 1.51,95% CI = 0.55-4.17),C9orf72中间重复扩增(20-30)确实与PD有关(OR = 2.43,95% CI = 1.20-4.9)。由于致病性扩增的数量不同,C9orf72 G4C2重复扩增在各种ND中的病理机制也不同。测量C9orf72 G4C2重复序列的数量可能有助于对各种ND进行早期鉴别诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Journal of neurogenetics
Journal of neurogenetics 医学-神经科学
CiteScore
4.40
自引率
0.00%
发文量
13
审稿时长
>12 weeks
期刊介绍: The Journal is appropriate for papers on behavioral, biochemical, or cellular aspects of neural function, plasticity, aging or disease. In addition to analyses in the traditional genetic-model organisms, C. elegans, Drosophila, mouse and the zebrafish, the Journal encourages submission of neurogenetic investigations performed in organisms not easily amenable to experimental genetics. Such investigations might, for instance, describe behavioral differences deriving from genetic variation within a species, or report human disease studies that provide exceptional insights into biological mechanisms
期刊最新文献
The initial years of the Cold Spring Harbor Laboratory summer course on the neurobiology of Drosophila. Clinical potential of epigenetic and microRNA biomarkers in PTSD. Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy. Neurobiology of egg-laying behavior in Drosophila: neural control of the female reproductive system. Memoir of the early years of the CSHL summer Drosophila neurobiology course: 1984-1985.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1