孟德尔随机化分析在骨质疏松症病因学研究中的应用
Application of Mendelian randomization analysis in the etiology of osteoporosis
  
DOI:10.3969/j.issn.1006-7108.2020.06.029
中文关键词:  孟德尔随机化分析  骨质疏松  病因学
英文关键词:mendelian randomization, osteoporosis, etiology
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作者单位
魏晓伟 张晓梅* 北京大学国际医院北京 102206 
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中文摘要:
      发现可控的致病因素是骨质疏松症防治的必要条件。利用自由组合定律原理,孟德尔随机化分析克服传统观察性研究和随机对照研究的局限性,能够反映暴露因素和疾病间的真实联系,近年来被广泛应用于疾病病因学的研究。通过孟德尔随机化方法,国内外学者在对传统观察性研究中发现的骨质疏松相关因素进行分析后发现,欧洲人群中维生素D水平、奶制品摄入、体脂含量、尿酸水平等与骨质疏松的发病无直接因果关系,而雌激素水平下降、青春期延迟、吸烟等因素对骨质疏松发生有促进作用。在亚洲人群研究中探索了维生素D水平与骨质疏松症的因果关系,与欧洲人群取得一致性结论。孟德尔随机化的应用能够解决传统观察性研究及随机对照研究中因果推断存在的问题,从而推动骨质疏松病因学研究的进展,对于指导骨质疏松的防治策略,具有广阔的应用前景。
英文摘要:
      To identify causative factors is essential for prevention and treatment of osteoporosis. After briefly introducing mendelian randomization, we summarized mendelian randomization studies on the etiology of osteoporosis to provide new ideas on the causation of osteoporosis. By overcoming the limitations of traditional observational studies and randomized controlled studies, Mendelian randomization reflects the real relationship between exposure factors and diseases. Researchers over the world explored the relationship between risk factors revealed in traditional observational studies and osteoporosis using Mendelian randomization. No causative relationship was found between vitamin D, dairy intake, body lipid or uric acid and osteoporosis in European population. Lower estradiol, late puberty, and smoking promote the occurrence of osteoporosis. A study in Asian population analyzed vitamin D levels with osteoporosis and reached consistent conclusion with the European population. By finding out causative factors of osteoporosis, Mendelian randomization promoted development of osteoporosis etiology and guided the prevention and treatment of osteoporosis. More Mendelian randomization researches should be carried out for more understanding of osteoporosis.
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