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Article type: Short Communication
Authors: Ma, Fang-Chena | Wang, Hui-Fub | Cao, Xi-Pengc | Tan, Chen-Chenb | Tan, Lanb; * | Yu, Jin-Taib; c; *
Affiliations: [a] Department of Neurology, Qingdao Municipal Hospital, Weifang Medical University, Qingdao, China | [b] Department of Neurology, Qingdao Municipal Hospital, Qingdao University, Qingdao, China | [c] Clinical Research Center, Qingdao Municipal Hospital, Qingdao University, Qingdao, China
Correspondence: [*] Correspondence to: Lan Tan and Jin-Tai Yu, Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, No. 5 Donghai Middle Road, Qingdao, Shandong Province 266071, China. E-mails: dr.tanlan@163.com (L. Tan) and yu-jintai@163.com (J.-T. Yu).
Abstract: The ATP-binding cassette transporter A7 (ABCA7) was identified as a known risk factor for Alzheimer’s disease (AD). However, the relation between ABCA7 and AD was still inconsistent across these studies. Here, our meta-analysis aimed at confirming the association of ABCA7 with AD. Finally, 16 case-control studies (63747 versus 85833) were retrieved from PubMed and other databases. Three common loci were confirmed to increase the risk of AD (rs3764650: OR = 1.20, 95% CI = 1.16–1.24; rs3752246: OR = 1.13,95% CI = 1.08–1.19; rs4147929: OR = 1.17, 95% CI = 1.10–1.24), but the associations varied among the different races. Furthermore, ABCA7 loss-of-function (LOF) mutations conferred a higher risk for AD than did the above variants (LOF: OR = 1.78, 95% = 1.43–2.22). In conclusion, ABCA7 genetic variants, especially the LOF mutations, were significantly associated with the risk of AD.
Keywords: ABCA7, Alzheimer’s disease, loss-of-function, meta-analysis
DOI: 10.3233/JAD-180107
Journal: Journal of Alzheimer's Disease, vol. 63, no. 4, pp. 1261-1267, 2018
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