Association between bone mineral density and scoliosis: a two-sample mendelian randomization study in european populations.

IF 2.7 3区生物学

Hereditas Pub Date : 2024-12-31 DOI:10.1186/s41065-024-00352-w

Fangjun Yang, Jiantao Wen

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引用次数: 0

Abstract

Background: Previous studies have shown that bone mineral density (BMD) has a certain impact on scoliosis. However, up to now, there is no clear evidence that there is a causal association between the two. The aim of this study is to investigate whether there is a causal association between BMD at different body positions and scoliosis by two-sample Mendelian randomization (MR).

Methods: Genetic variants (SNPS) strongly associated with BMD (total body BMD (TB-BMD), lumbar spine BMD (LS-BMD), femoral neck BMD (FN-BMD), heel BMD (HE-BMD), and forearm BMD (FA-BMD)) were extracted from GEFOS and genome-wide association analysis (GWAS) databases SNPs) were used as instrumental variables (IVs). Scoliosis was also selected from the Finnish database as the outcome. Inverse variance weighting (IVW) method was used as the main analysis method, and multiple sensitivity analysis was performed by combining weighted median, MR-Egger, MR Multi-effect residuals and outliers.

Results: IVW results showed that TB-BMD (OR = 0.83, 95%CI: 0.66-1.55 P = 0.13), LS-BMD (OR = 0.72, 95%CI: 0.52-0.99, P = 0.04), FN-BMD (OR = 0.74, 95%CI: 0.50-1.09, P = 0.13), FA-BMD (OR = 0.95,95%CI: 0.70-1.28, P = 0.75), HE-BMD (OR = 0.91, 95%CI: 0.77-1.08, P = 0.29). Sensitivity analyses showed no evidence of pleiotropy or heterogeneity (p > 0.05) (MR-PRESSO and Cochrane). The results were further validated by leave-one-out test and MR-Egger intercept, which confirmed the robustness of the study results.

Conclusion: In conclusion, the present study demonstrates that the causal role of genetic prediction of scoliosis increases with decreasing lumbar BMD. There was no evidence that BMD at the remaining sites has a significant causal effect on scoliosis. Our results suggest that the lumbar spine BMD should be routinely measured in the population at high risk of scoliosis. If osteoporosis occurs, appropriate treatment should be given to reduce the incidence of scoliosis.

Clinical trial number: Not applicable.

查看原文本刊更多论文

骨密度与脊柱侧凸之间的关系：欧洲人群的两样本孟德尔随机化研究。

背景：已有研究表明骨矿物质密度（BMD）对脊柱侧凸有一定影响。然而，到目前为止，并没有明确的证据表明两者之间存在因果关系。本研究的目的是通过双样本孟德尔随机化（MR）研究不同体位骨密度与脊柱侧凸之间是否存在因果关系。方法：从GEFOS中提取与骨密度(全身骨密度（TB-BMD）、腰椎骨密度（LS-BMD）、股骨颈骨密度（FN-BMD）、足跟骨密度（HE-BMD）和前臂骨密度（FA-BMD）密切相关的遗传变异（SNPS），并将全基因组关联分析（GWAS）数据库中的SNPS作为工具变量（IVs）。脊柱侧凸也从芬兰数据库中选择作为结果。采用方差逆加权法（IVW）作为主要分析方法，结合加权中位数、MR- egger、MR多效应残差和异常值进行多重敏感性分析。结果:IVW结果表明TB-BMD (OR = 0.83, 95% ci: 0.66—-1.55 P = 0.13), LS-BMD (OR = 0.72, 95% ci: 0.52—-0.99,P = 0.04), FN-BMD (OR = 0.74, 95% ci: 0.50—-1.09,P = 0.13), FA-BMD (OR = 0.95, 95% ci: 0.70—-1.28,P = 0.75), HE-BMD (OR = 0.91, 95% ci: 0.77—-1.08,P = 0.29)。敏感性分析未显示多效性或异质性（p < 0.05）（MR-PRESSO和Cochrane）。通过留一检验和MR-Egger截距进一步验证了结果，证实了研究结果的稳健性。结论：总之，本研究表明，遗传预测脊柱侧凸的因果作用随着腰椎骨密度的降低而增加。没有证据表明其余部位的骨密度与脊柱侧凸有显著的因果关系。我们的研究结果表明，腰椎骨密度应该在脊柱侧凸高风险人群中进行常规测量。如果发生骨质疏松，应给予适当的治疗，以减少脊柱侧凸的发生率。临床试验号：不适用。

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

Hereditas Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.80

自引率

3.70%

发文量

期刊介绍： For almost a century, Hereditas has published original cutting-edge research and reviews. As the Official journal of the Mendelian Society of Lund, the journal welcomes research from across all areas of genetics and genomics. Topics of interest include human and medical genetics, animal and plant genetics, microbial genetics, agriculture and bioinformatics.