亚洲血管性痴呆的遗传易感性变异：系统评价和荟萃分析。

Genetic Susceptibility Variants of Vascular Dementia among Asians: A Systematic Review and Meta-Analysis.

机构信息

Department of Medical Science, Faculty of Health Sciences, University College of MAIWP International, Kuala Lumpur, Malaysia.

Department of Conservative Dentistry and Endodontics, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, India.

出版信息

Dement Geriatr Cogn Disord. 2024;53(4):200-216. doi: 10.1159/000538864. Epub 2024 Apr 18.

DOI:10.1159/000538864

PMID:38636474

Abstract

INTRODUCTION

Vascular dementia (VaD), a neurocognitive impairment directly related to vascular injury, is the second most common cause of age-related dementia. Although numerous studies have investigated candidate genetic polymorphisms associated with VaD in Asia, the genetics of VaD remains unclear.

METHODS

This review provides an updated meta-analysis of genetic polymorphisms associated with VaD in Asians, using the PRISMA guidelines. Published literature up to May 2021 was extracted from the PubMed, Scopus, Ovid, and EBSCOhost databases. Meta-analysis was conducted using the Open Meta analyst, Review Manager, and MedCalc® Statistical Software. Trial sequential analysis (TSA) was performed using TSA viewer software.

RESULTS

A total of 46 eligible studies, comprising 23 genes and 35 single nucleotide polymorphisms, were retrieved. The meta-analysis was conducted on the following genetic polymorphisms, APOE ε2/3/4, MTHFR rs1801131, ACE rs4340 (I/D) gene polymorphism, and a PSEN1 intron 8 variant. The pooled odds ratio (ORs) revealed a significant increase in the risk of VaD in the apolipoprotein E (APOE) ε4 allelic model (OR, 1.79, p < 0.001), and the methylenetetrahydrofolate reductase (MTHFR) rs1801133 polymorphism T allele in the allelic model (OR, 1.23, p = 0.013).

CONCLUSION

Our findings provide evidence that genetic polymorphisms of the APOE ε4 allele and MTHFR rs1801133 T allele increase the risk of developing VaD in Asians. However, future large-scale investigations examining particularly on South-Eastern and West-Asian populations are highly recommended.

摘要

简介

血管性痴呆（VaD）是一种与血管损伤直接相关的神经认知障碍，是仅次于年龄相关性痴呆的第二大常见痴呆症病因。尽管许多研究已经在亚洲人群中调查了与 VaD 相关的候选基因多态性，但 VaD 的遗传学仍不清楚。

方法

本综述按照 PRISMA 指南，对亚洲人群中与 VaD 相关的基因多态性进行了更新的荟萃分析。从 PubMed、Scopus、Ovid 和 EBSCOhost 数据库中提取了截至 2021 年 5 月的已发表文献。使用 Open Meta analyst、Review Manager 和 MedCalc® Statistical Software 进行荟萃分析。使用 TSA viewer 软件进行试验序贯分析（TSA）。

结果

共检索到 46 项符合条件的研究，涉及 23 个基因和 35 个单核苷酸多态性。对以下基因多态性进行了荟萃分析：载脂蛋白 E（APOE）ε2/3/4、亚甲基四氢叶酸还原酶（MTHFR）rs1801131、血管紧张素转换酶（ACE）rs4340（I/D）基因多态性和 PSEN1 内含子 8 变异。汇总的优势比（OR）显示，载脂蛋白 E（APOE）ε4 等位基因模型中 VaD 风险显著增加（OR，1.79，p < 0.001），亚甲基四氢叶酸还原酶（MTHFR）rs1801133 多态性 T 等位基因在等位基因模型中（OR，1.23，p = 0.013）。