检查绝经后妇女遗传多态性与骨质疏松症之间的关系：一项系统综述

Q1 Medicine

Informatics in Medicine Unlocked Pub Date : 2025-01-01 DOI:10.1016/j.imu.2025.101652

Zainab Alhalwachi , Mira Mousa , Salsabeel Juneidi , Gabriela Restrepo-Rodas , Spyridon Karras , Habiba Alsafar , Fatme Al Anouti

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引用次数: 0

摘要

绝经后骨质疏松症（PMOP）是女性中最常见的代谢性骨病，其特征是显著的骨密度损失和骨折风险增加。结合遗传因素，对遗传多态性与ppu风险之间的关系进行了系统的综述。方法对PubMed文献进行综合分析，研究与ppu风险相关的遗传多态性。主要结果是确定与ppu相关的最常被研究的基因。次要结果是对顶级遗传标记进行荟萃分析，以评估其与ppu风险的总体关联。结果6个基因与ppu密切相关，占55.08%。其中，VDR基因有35篇（18.72%），TNFRSF11B有23篇（12.30%），ESR1有18篇（9.63%），COL1A1有12篇（6.42%），MTHFR有8篇（4.27%），TGFb1有7篇（3.74%）。meta分析显示5个标记与PMOP显著相关：VDR基因SNP rs1544410 （ORG: 0.74(0.59, 0.92)）、SNP rs11568820 （ORG: 1.40(1.03, 1.91)）和SNP rs2228570 (ORT: 1.39 (1.12, 1.73))；ESR1基因的PvuII变异（ORP: 0.80(0.67, 0.96)）。结论：本综述强调了开展一项强有力的、多种族的、大队列研究的重要性，并进行功能分析，以证实与ppu相关的六个关键基因的发现。在更大、更多样化的数据集中复制这些发现对于验证其生物学相关性和潜在的临床应用至关重要。

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Examining the association between genetic polymorphisms and osteoporosis among post-menopausal women: a systematic review

Purpose

Postmenopausal osteoporosis (PMOP) is the most prevalent metabolic bone disease among women, characterized by significant bone density loss and increased fracture risk. With a genetic component, a systematic review was conducted on the association between genetic polymorphisms and PMOP risk.

Methods

A comprehensive review of PubMed literature examined genetic polymorphisms linked to PMOP risk. The primary outcome was to identify the most frequently studied genes linked to PMOP. The secondary outcome was to perform a meta-analysis on the top genetic markers to assess their overall association with PMOP risk.

Results

Six genes, accounting for 55.08 % of all studies, were strongly associated with PMOP. Of these, the VDR gene was featured in 35 articles (18.72 % of studies), TNFRSF11B in 23 (12.30 %), ESR1 in 18 (9.63 %), COL1A1 in 12 (6.42 %), MTHFR in 8 (4.27 %), and TGFb1 in 7 (3.74 %). Meta-analysis showed five markers significantly associated with PMOP: SNP rs1544410 (OR_G: 0.74 (0.59, 0.92)), SNP rs11568820 (OR_G: 1.40 (1.03, 1.91)), and SNP rs2228570 (OR_T: 1.39 (1.12, 1.73)) in the VDR gene; and PvuII variant (OR_P: 0.80 (0.67, 0.96)) in the ESR1 gene.

Conclusion

This review strengthens the importance of conducting a robust, multi-ethnic, large cohort study with functional analysis to corroborate the findings of the six key genes associated with PMOP. Replicating these findings in larger and more diverse datasets is crucial to validate their biological relevance and potential clinical application.

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来源期刊

Informatics in Medicine Unlocked Medicine-Health Informatics

CiteScore

9.50

自引率

0.00%

发文量

282

审稿时长

39 days

期刊介绍： Informatics in Medicine Unlocked (IMU) is an international gold open access journal covering a broad spectrum of topics within medical informatics, including (but not limited to) papers focusing on imaging, pathology, teledermatology, public health, ophthalmological, nursing and translational medicine informatics. The full papers that are published in the journal are accessible to all who visit the website.