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

作者全名："Jin, Pingfei; Li, Yong; Li, Yao"

作者地址："[Jin, Pingfei] Chongqing Univ, Chongqing Gen Hosp, Chongqing, Peoples R China; [Li, Yong; Li, Yao] Chongqing Med Univ, Childrens Hosp, Chongqing 400014, Peoples R China"

通信作者："Li, Y (通讯作者)，Chongqing Med Univ, Childrens Hosp, Chongqing 400014, Peoples R China."

来源：JOURNAL OF NEUROGENETICS

ESI学科分类：NEUROSCIENCE & BEHAVIOR

WOS号：WOS:001228173400001

JCR分区：Q4

影响因子：1.9

年份：2024

卷号：38

期号：1

开始页：1

结束页：8

文献类型：Review

关键词：Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; corticobasal degeneration; multiple system atrophyC9orf72 repeat; meta-analysis

摘要："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."

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