大量用于维生素D受体（VDR）基因变异检测的实验室方案：关于与妊娠期高血压疾病相关性的系统评价

A plethora of laboratory protocols for vitamin D receptor (VDR) gene variants detection: a systematic review of associations with hypertensive disorders of pregnancy.

作者信息

Ibrahim Yakubu, Basri Nurul Iftida, Jamil Amilia Afzan Mohd, Nordin Norshariza

机构信息

Department of Obstetrics and Gynecology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor Darul Ehsan, 43400, Malaysia.

Department of Medical Laboratory Science, Faculty of Allied Health Sciences, College of Medical Sciences, Ahmadu Bello University, Zaria, Kaduna State, Nigeria.

出版信息

BMC Pregnancy Childbirth. 2025 May 6;25(1):539. doi: 10.1186/s12884-025-07510-6.

DOI:10.1186/s12884-025-07510-6

PMID:40329233

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12057019/

Abstract

INTRODUCTION

Genetic variations in the vitamin D receptor (VDR) gene have been inconsistently linked to hypertensive disorder of pregnancy (HDP) across different populations. This systematic review aims to evaluate the laboratory protocols of VDR detection and association with HDP.

METHODS

We performed a systematic review using the Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA) guideline and conducted an article search using the Web of Science, PubMed, Scopus, EBSCOhost (MEDLINE and CINAHL) databases. We included all studies involving one or more of the major VDR gene variants (FokI, BsmI, ApaI, and TaqI) and association with HDP.

RESULTS

Of the 9 studies evaluated, 6 (67%) studies were reported from Asia, 2 (22%) from Europe, and 1 (11%) from Latin America. Our analysis of VDR variant detection protocols revealed that approximately 6 (67%) studies used polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), of which 3 (33%) reported a significant association with FokI variant. Two (22%) of studies used TaqMan PCR and found an association with FokI variant. Only 1 (11%) study utilised allele-specific PCR (AS-PCR) for ApaI variant genotyping. For association analysis of the variants with HDP in populations, 4 studies (44%) reported an association with FokI variant in Asians. Two studies (22%) reported BsmI variant in Caucasians. TaqI variant was not associated with HDP in all the populations studied.

CONCLUSIONS

Our findings suggest an association between VDR genetic variation and HDP across different populations. To enhance consistency in these associations, future studies should use reliable detection methods and strict adherence to quality control measures. This could help in the identification of population-specific biomarkers, prevalent variants, and support personalized management strategies to reduce maternal morbidity and mortality related to HDP.

摘要

引言

维生素D受体（VDR）基因的遗传变异与不同人群的妊娠期高血压疾病（HDP）之间的关联并不一致。本系统评价旨在评估VDR检测的实验室方案及其与HDP的关联。

方法

我们按照系统评价和Meta分析的首选报告项目（PRISMA）指南进行系统评价，并使用Web of Science、PubMed、Scopus、EBSCOhost（MEDLINE和CINAHL）数据库进行文献检索。我们纳入了所有涉及一种或多种主要VDR基因变异（FokI、BsmI、ApaI和TaqI）以及与HDP关联的研究。

结果

在评估的9项研究中，6项（67%）来自亚洲，2项（22%）来自欧洲，1项（11%）来自拉丁美洲。我们对VDR变异检测方案的分析表明，约6项（67%）研究使用了聚合酶链反应-限制性片段长度多态性（PCR-RFLP），其中3项（33%）报告与FokI变异有显著关联。2项（22%）研究使用TaqMan PCR并发现与FokI变异有关联。只有1项（11%）研究利用等位基因特异性PCR（AS-PCR）对ApaI变异进行基因分型。对于人群中变异与HDP的关联分析，4项研究（44%）报告亚洲人群中FokI变异与HDP有关联。2项研究（22%）报告白种人中BsmI变异与HDP有关联。在所研究的所有人群中，TaqI变异与HDP均无关联。