首页|超重与髋骨性关节炎基因关系的孟德尔法研究

超重与髋骨性关节炎基因关系的孟德尔法研究

Mendelian method study on genetic relationship between overweight and hip osteoarthritis

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[目的]采用孟德尔随机化(Mendelian randomization,MR)的方法,探讨超重与髋关节骨关节炎风险之间的因果关系,以期为临床防治提供理论依据.[方法]使用全基因组关联分析(genome-wide association study,GWAS)的公开数据开展研究,以超重作为暴露因素,以髋关节骨关节炎作为结局因素,提取与超重相关的工具变量(instrumental variable,IV).采用逆方差加权法(inverse-variance weighted,IVW)为主的MR方法.此外,使用MR-Egger法、加权中位数法(weighted median,WME)、加权模型法(weighted mode,WM)和简单众数法(simple mode,SM)补充验证研究结果.并对实验结果进行异质性检验、敏感性分析和多效性分析.[结果]IVW结果显示,超重与髋关节骨性关节炎呈正性相关关系(OR=1.720,95%CI 1.320~2.250;P=6.23942E-05<0.01);MR-Egger分析结果提示本研究不存在多效性(P=0.503);Cochran's Q检验结果P=0.540,提示本研究结果不存在异质性;留一法检测分析依次剔除每个用于MR分析的单核苷酸多样性(single nucleotide polymorphisms,SNP),表明单个SNP不能明显影响总体的有效性,说明本研究结果稳定法可靠.[结论]超重和髋关节骨关节炎之间存在因果关系.
[Objective]Mendelian randomization(MR)method was used to investigate the causal relationship between overweight and hip osteoarthritis,in order to provide theoretical basis for clinical prevention and treatment.[Methods]Using publicly available data from the Genome-wide association study(GWAS),overweight as an exposure factor and hip osteoarthritis as an outcome factor,instrumental vari-able(IV)related to overweight was extracted.The MR method based on inverse-variance weighted(IVW)method was the main research method.In additon,the MR-Egger method,weighted median(WME)method and weighted mode(WM)method and simple mode method(SM)was used to verify the results.Furthermore,the results were tested for heterogeneity,sensitivity and pleiotropy.[Results]IVW results showed that overweight was positively correlated with hip osteoarthritis(OR=1.720,95%CI 1.320~2.250;P=6.23942E-05,<0.01).The re-sult of MR-Egger analysis suggested that there was no pleiotropy in this study(P=0.503).The results of Cochran's Q test(P=0.540)suggest-ed that there is no heterogeneity in the results of this study.The single nucleotide polymorphisms(SNPS)used for MR Analysis were removed successively,which indicated that a single SNP could not significantly affect the overall effectiveness,indicating that results of this study were stable and reliable.[Conclusion]There is a causal relationship between overweight and hip osteoarthritis.

Mendelian randomizationoverweighthip osteoarthritis

张宇、赵翔、张良、江东信、高延征

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河南大学河南省人民医院脊柱脊髓外科,河南郑州 450003

孟德尔随机化 超重 髋关节骨关节炎

国家自然科学基金

82172438

2024

中国矫形外科杂志
中国残疾人康复协会 中国人民解放军第八十八医院

中国矫形外科杂志

CSTPCD北大核心
影响因子:1.521
ISSN:1005-8478
年,卷(期):2024.32(11)