Yarwood Annie, Huizinga Tom W J, Worthington Jane
Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Institute of Inflammation and Repair, Faculty of Medical and Human Sciences, Manchester Academic Health Science Centre, Stopford Building, University of Manchester, Manchester, UK.
Department of Rheumatology, Leiden University Medical Centre, Leiden, The Netherlands and.
Rheumatology (Oxford). 2016 Feb;55(2):199-209. doi: 10.1093/rheumatology/keu323. Epub 2014 Sep 18.
There is now a general consensus that RA has a spectrum of disease stages that can begin many years before the onset of clinical symptoms. It is widely thought that understanding the complex interplay between genetics and environment, and their role in pathogenesis, is essential in gaining further insight into the mechanisms that drive disease development and progression. More than 100 genetic susceptibility loci have now been identified for RA through studies that have focused on patients with established RA compared with healthy controls. Studying the early preclinical phases of disease will provide valuable insights into the biological events that precede disease and could potentially identify biomarkers to predict disease onset and future therapeutic targets. In this review we will cover recent advances in the knowledge of genetic and environmental risk factors and speculate on how these factors may influence the transition from one stage of disease to another.
目前已形成普遍共识，即类风湿关节炎（RA）具有一系列疾病阶段，这些阶段可能在临床症状出现前许多年就已开始。人们普遍认为，了解基因与环境之间的复杂相互作用及其在发病机制中的作用，对于进一步深入了解驱动疾病发展和进展的机制至关重要。通过针对已确诊RA患者与健康对照进行的研究，现已确定了100多个RA的遗传易感性位点。研究疾病的早期临床前阶段将为疾病发生之前的生物学事件提供有价值的见解，并有可能识别出预测疾病发作的生物标志物和未来的治疗靶点。在本综述中，我们将涵盖遗传和环境风险因素知识的最新进展，并推测这些因素可能如何影响疾病从一个阶段向另一个阶段的转变。
