MicroRNA binding site variants-new potential markers of primary osteoporosis in men and women.

IF 2.8 3区生物学 Q2 GENETICS & HEREDITY Frontiers in Genetics Pub Date : 2024-10-01 eCollection Date: 2024-01-01 DOI:10.3389/fgene.2024.1470310

Bulat Yalaev, Roman Deev, Anton Tyurin, Ramil Salakhov, Kirill Smirnov, Anna Eremkina, Natalia Mokrysheva, Ildar Minniakhmetov, Rita Khusainova

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Abstract

Introduction: The identification of significant DNA markers of primary osteoporosis may gain new insights by studying genome regions involved in mechanisms of epigenetic regulation through interactions with microRNAs.

Methods: The authors searched for associations of polymorphic variants of microRNA binding sites of mRNA target genes and polymorphic loci of microRNA genes with primary osteoporosis in a cohort of women and men from the Volga-Ural region of Russia (N = 1.177).

Results: Using case-control association analysis, the authors found that rs1061947 (COL1A1), rs10793442 (ZNF239), rs6854081 (FGF2), and rs11614913 (miR-196a) were associated with osteoporotic fractures; rs5854 (MMP1) and rs2910164 (miR-146a) were associated with low bone mineral density; and rs10098470 (TPD52), rs11540149 (VDR), rs1042673 (SOX9), rs1054204 (SPARC), and rs1712 (FBXO5) were markers of both fractures and low bone mineral density. Among the identified associations, ethno specific trends were found, as well as sex-specific associations. Prognostic models were developed, among which the model for predicting osteoporosis in general in women (Area Under Curve = 0.909) achieved the highest level of predictive value. Thus, the potential role of polymorphic variants of microRNA binding sites in the development of primary osteoporosis in men and women from the Volga-Ural region of Russia was demonstrated.

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微 RNA 结合位点变异--男性和女性原发性骨质疏松症的新潜在标志物。

导言：原发性骨质疏松症的重要 DNA 标志物的鉴定可通过研究基因组区域与 microRNA 的相互作用的表观遗传调控机制获得新的见解：原发性骨质疏松症的重要 DNA 标志物的鉴定可通过研究与 microRNAs 相互作用的表观遗传调控机制相关的基因组区域获得新的见解：作者在俄罗斯伏尔加-乌拉尔地区的一组女性和男性（N = 1.177）中寻找mRNA靶基因结合位点的microRNA多态性变异和microRNA基因的多态性位点与原发性骨质疏松症的关联：通过病例对照关联分析，作者发现rs1061947（COL1A1）、rs10793442（ZNF239）、rs6854081（FGF2）和rs11614913（miR-196a）与骨质疏松性骨折有关；rs5854（MMP1）和 rs2910164（miR-146a）与低骨矿密度相关；rs10098470（TPD52）、rs11540149（VDR）、rs1042673（SOX9）、rs1054204（SPARC）和 rs1712（FBXO5）是骨折和低骨矿密度的标志物。在已确定的关联中，发现了种族特异性趋势和性别特异性关联。研究人员建立了预测模型，其中预测女性骨质疏松症的模型（曲线下面积 = 0.909）具有最高的预测价值。因此，微RNA结合位点的多态变异在俄罗斯伏尔加-乌拉尔地区男性和女性原发性骨质疏松症发病中的潜在作用得到了证实。

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

Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

5.50

自引率

8.10%

发文量

3491

审稿时长

14 weeks

期刊介绍： Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.