Chongqing General Hospital, Chongqing University, Chongqing, China.
Children's Hospital of Chongqing Medical University, Chongqing, China.
J Neurogenet. 2024 Mar;38(1):1-8. doi: 10.1080/01677063.2024.2343672. Epub 2024 May 20.
To conduct a meta-analysis investigating the relationship between the chromosome 9 open reading frame 72 () 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 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). 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 repeat expansions (>30) were not associated with the risk of PD (OR = 1.51, 95% CI = 0.55-4.17), intermediate repeat expansions (20-30) were indeed associated with PD (OR = 2.43, 95% CI = 1.20-4.9). The pathological mechanism of G4C2 repeat expansions differs across various NDs due to the varying number of pathogenic expansions. Measuring the number of G4C2 repeats may be useful in the early-stage differential diagnosis of various NDs.
为了研究 9 号染色体开放阅读框 72（）GGGCC（G4C2）与神经退行性疾病（NDs）之间的关系，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）和皮质基底节变性（CBD），我们进行了一项荟萃分析。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。该研究表明，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：OR=28.04，95%CI=10.17-77.31）。中间重复扩增（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），而重复扩增（>30）与 PD 无关（OR=1.51，95%CI=0.55-4.17），中间重复扩增（20-30）与 PD 有关（OR=2.43，95%CI=1.20-4.9）。由于致病性扩增数量的不同， G4C2 重复扩增在不同的 NDs 中的病理机制不同。测量 G4C2 重复的数量可能有助于各种 NDs 的早期鉴别诊断。
