孟德尔随机化在骨质疏松症病因中的研究进展  

Research progress of Mendelian randomization in the etiology of osteoporosis

作　　者：文皓楠 宋敏[1,2] 张荣伟 宋永嘉 巩彦龙[2] 蒋宜伟 WEN Haonan;SONG Min;ZHANG Rongwei;SONG Yongjia;GONG Yanlong;JIANG Yiwei(Gansu University of Chinese Medicine,Lanzhou 730000,China;Affiliated Hospital of Gansu University of Chinese Medicine,Lanzhou 730000,China)

机构地区：[1]甘肃中医药大学,甘肃兰州730000 [2]甘肃中医药大学附属医院,甘肃兰州730000

出　　处：《中国骨质疏松杂志》2024年第12期1791-1798,共8页Chinese Journal of Osteoporosis

基　　金：国家自然科学基金地区项目(82160916);甘肃省高等学校产业支撑计划项目(2022CYZC-52);甘肃省青年科技基金计划项目(22JR11RA132)。

摘　　要：骨质疏松症的致病因素已经在流行病学调查中被广泛揭示,但这些观察性研究存在潜在的混杂和反向因果效应,且无法从遗传层面揭示发病机制。孟德尔随机化研究能够通过检查对危险因素的遗传易感性与疾病结局之间的关系来评估暴露与结局的因果。近年来发表了许多有关骨质疏松症的孟德尔随机化研究,不仅对前期的流行病调查与横断面研究中有关骨质疏松症的致病因素相关证据进行了说明、补充,也对一些争议观点提出了新的见解。本文旨在介绍近年来以骨质疏松症作为结局指标研究其与疾病、血液指标、生活方式等暴露因素的孟德尔随机化研究,以期丰富骨质疏松症的发病机制和防治思路,为后续临床和公共卫生决策提供理论依据。The pathogenic factors of osteoporosis have been widely revealed in epidemiological investigations,but these observational studies have potential confounding and reverse causality effects,and cannot reveal the pathogenesis at the genetic level.Mendelian randomization studies enable the assessment of causality between exposure and outcome by examining the relationship between genetic predisposition to a risk factor and disease outcome.In recent years,many Mendelian randomization studies on osteoporosis have been published,which not only explain and supplement the evidence related to the pathogenic factors of osteoporosis from previous epidemiological surveys and cross-sectional studies,but also provide new insights into some controversial views.This article aims to introduce the recent Mendelian randomization studies that use osteoporosis as the outcome index to study its relationship with diseases,blood indicators,lifestyle and other exposure factors,in order to enrich the pathogenesis and prevention ideas of osteoporosis,and provide theoretical basis for subsequent clinical and public health decision-making.

关 键 词：孟德尔随机化 骨质疏松症 基因多态性 致病因素 

分 类 号：R681[医药卫生—骨科学]