The Association between C9orf72 Repeats and Risk of Alzheimer’s Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis
This article is part of Special Issue:
Li Shu,
Qiying Sun,
Yuan Zhang,
Qian Xu,
Jifeng Guo,
Xinxiang Yan,
Beisha Tang,
Li Shu
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorQiying Sun
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorYuan Zhang
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorQian Xu
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorJifeng Guo
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorXinxiang Yan
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorCorresponding Author
Beisha Tang
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorLi Shu,
Qiying Sun,
Yuan Zhang,
Qian Xu,
Jifeng Guo,
Xinxiang Yan,
Beisha Tang,
Li Shu
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorQiying Sun
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorYuan Zhang
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorQian Xu
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorJifeng Guo
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorXinxiang Yan
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorCorresponding Author
Beisha Tang
Xiangya Hospital, Central South University, Hunan, China csu.edu.cn
Search for more papers by this authorAcademic Editor: Jan Aasly
Abstract
C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in Caucasian populations. However, the relationship between C9orf72 repeats and Alzheimer’s disease (AD) was not clear. Additionally, there were few articles assessing C9orf72 in other ethnicities with ALS. In this meta-analysis, we aimed to investigate the relationship between C9orf72 repeat expansions (≥30 repeats) and intermediate repeat copies (20–29 repeats) and AD or ALS. The results suggested positive correlations between C9orf72 repeat expansions and the risk of Alzheimer’s disease (OR = 6.36, 95% CI = 3.13–12.92, and p < 0.00001), while intermediate repeat copies of C9orf72 gene were not associated with the risk of the disease. C9orf72 repeat expansions were positively correlated with the risk of familial and sporadic ALS (OR = 293.25, 95% CI = 148.17–580.38, and p < 0.00001; OR = 35.57, 95% CI = 19.61–64.51, and p < 0.00001). There was a positive correlation between the gene variations and ALS risk among Caucasians and Asians (OR = 57.56, 95% CI = 36.73–90.22, and p < 0.00001; OR = 6.35, 95% CI = 1.39–29.02, and p = 0.02).
Supporting Information
The flowchart of the selection of studies, the funnel plot and the detailed characteristics of the included studies are listed in the supplementary materials.
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