骨质疏松性骨折与相关基因多态性研究进展

摘要

骨质疏松的发生是遗传和环境因素共同作用的结果.而骨质疏松的最严重后果是骨质疏松性骨折(即脆性骨折),这是由于骨强度的下降,在受到轻微创伤时即可发生骨折,这大大增加了老年人的病残率和病死率.随着我国人口老龄化的加剧,骨质疏松性骨折正在悄悄地、迅猛地威胁着老年人的健康和幸福.骨密度仍是临床预测骨质疏松患者发生骨质疏松性骨折风险的“金标准”.目前国内外学者对引发骨质疏松及骨质疏松性骨折的遗传机制已进行了大量的研究,但是复杂的遗传学体系并未完全清楚,还有待于更加深入和广泛的探索.研究和查阅大量文献发现近年来研究某个基因多态性对骨密度影响的相关性研究比较多,而少有系统阐述其关系的文章,故对此予以综述.以探讨这些基因与发生骨质疏松性骨折的关系,为骨质疏松性骨折的遗传学研究提供方向.%Osteoporosis (OP) is the result of the interaction of genetic and environmental factors.Osteoporotic fracture (i.e.fragility fracture) is the most serious consequence of OP,which is the result of decrease in bone strength and minor trauma.OP greatly increases the morbidity and mortality of the elderly.With the aging of our country population,fractures due to OP become the threat of the health of the elderly.Bone mineral density is still the “gold standard” for the risk index of osteoporotic fracture in patients with osteoporosis.At present,domestic and foreign scholars have conducted extensive studies concerning the relationship between genetics and osteoporosis.However,the complex genetic system is still not clarified.It remains to do more in-depth and extensive exploration.Literatures in recent years show that there are a lot of researches accessing the relationship between a particular gene polymorphism and bone mineral density,but there is no systematic review.This paper reviews and explores the relationship between polygenes and osteoporotic fractures,in order to provide the direction for the genetic research of osteoporotic fractures.