School of Medicine, Faculty of Medicine and Biomedical Sciences, University of Queensland, Herston Road, Brisbane, Queensland 4006, Australia.
Department of Rheumatology, Royal Brisbane and Women's Hospital, Butterfield St and Bowen Bridge Rd, Brisbane, Queensland 4029, Australia.
Nat Rev Rheumatol. 2016 Aug;12(8):486-96. doi: 10.1038/nrrheum.2016.102. Epub 2016 Jul 14.
Establishing causality of risk factors is important to determine the pathogenetic mechanisms underlying rheumatic diseases, and can facilitate the design of interventions to improve care for affected patients. The presence of unmeasured confounders, as well as reverse causation, is a challenge to the assignment of causality in observational studies. Alleles for genetic variants are randomly inherited at meiosis. Mendelian randomization analysis uses these genetic variants to test whether a particular risk factor is causal for a disease outcome. In this Review of the Mendelian randomization technique, we discuss published results and potential applications in rheumatology, as well as the general clinical utility and limitations of the approach.
确定风湿性疾病发病机制中的危险因素的因果关系对于确定发病机制非常重要,并有助于设计干预措施来改善患病患者的护理。在观察性研究中,存在未测量的混杂因素以及反向因果关系,这给因果关系的确定带来了挑战。遗传变异的等位基因在减数分裂时随机遗传。孟德尔随机化分析利用这些遗传变异来检验特定的危险因素是否对疾病结果具有因果关系。在这篇关于孟德尔随机化技术的综述中,我们讨论了已发表的结果以及该技术在风湿病学中的潜在应用,以及该方法的一般临床实用性和局限性。