Bridging Genomic Research Disparities in Osteoporosis GWAS: Insights for Diverse Populations.

IF 5.3 2区医学

Current Osteoporosis Reports Pub Date : 2025-05-24 DOI:10.1007/s11914-025-00917-2

Qing Wu, Jingyuan Dai, Jianing Liu, Lang Wu

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引用次数: 0

Abstract

Purpose of review: Genome-wide association studies (GWAS) have significantly advanced osteoporosis research by identifying genetic loci associated with bone mineral density (BMD) and fracture risk. However, disparities persist due to the underrepresentation of non-European populations, limiting the applicability of polygenic risk scores (PRS). This review examines recent advancements in osteoporosis genetics, highlights existing disparities, and explores strategies for more inclusive research.

Recent findings: European-focused GWAS have identified key loci for osteoporosis, including WNT signaling (SOST, LRP5) and RUNX2 transcriptional regulation. However, fewer than 40% of these variants can be replicated in Asian and African populations. Emerging studies in non-European groups reveal population-specific loci, sex-specific associations, and gene-environment interactions. Advances in machine learning (ML)-assisted GWAS and multi-omics integration are improving genetic discovery. Expanding GWAS in diverse populations, integrating multi-omics data, refining ML-based risk models, and standardizing biobank data are essential for equitable osteoporosis research. Future efforts must prioritize clinical translation to enhance personalized osteoporosis prevention and treatment.

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弥合骨质疏松GWAS的基因组研究差异：不同人群的见解。

综述目的：全基因组关联研究（GWAS）通过鉴定与骨矿物质密度（BMD）和骨折风险相关的基因位点，显著推进了骨质疏松症的研究。然而，由于非欧洲人口的代表性不足，差异仍然存在，限制了多基因风险评分（PRS）的适用性。本文回顾了骨质疏松症遗传学的最新进展，强调了现有的差异，并探讨了更具包容性的研究策略。最近的发现：以欧洲为重点的GWAS已经确定了骨质疏松症的关键位点，包括WNT信号（SOST, LRP5）和RUNX2转录调控。然而，这些变异中只有不到40%可以在亚洲和非洲人群中复制。对非欧洲群体的新研究揭示了群体特异性位点、性别特异性关联和基因-环境相互作用。机器学习（ML）辅助GWAS和多组学集成的进展正在改善遗传发现。在不同人群中扩展GWAS，整合多组学数据，完善基于ml的风险模型，以及标准化生物银行数据对于公平的骨质疏松症研究至关重要。未来的努力必须优先考虑临床翻译，以加强个性化的骨质疏松症预防和治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Osteoporosis Reports ENDOCRINOLOGY & METABOLISM-

CiteScore

8.40

自引率

2.30%

发文量

期刊介绍： This journal intends to provide clear, insightful, balanced contributions by international experts that review the most important, recently published clinical findings related to the diagnosis, treatment, management, and prevention of osteoporosis. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as current and future therapeutics, epidemiology and pathophysiology, and evaluation and management. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. An international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research. Commentaries from well-known figures in the field are also provided.