a School of Medicine , UCD Conway Institute of Biomolecular and Biomedical Research , Dublin , Ireland.
Expert Rev Mol Diagn. 2017 Sep;17(9):809-814. doi: 10.1080/14737159.2017.1355732. Epub 2017 Jul 19.
Rheumatoid Arthritis (RA) varies from a mild to a severe, unremitting illness characterized by uncontrolled inflammation with consequent damage to cartilage and bone of joints. Individualized therapeutic approaches based on likely outcome would facilitate a personalized therapeutic approach. Areas covered: Genetics is known to contribute a significant component of the variability in RA outcome, estimated at 45-60%. A number of candidate gene studies have been associated with variability in radiologically assessed joint damage; however a more comprehensive genome wide analysis is required to more fully characterize the genetic basis of RA severity. Expert commentary: Genetic profiling of patient presenting with RA has the potential to aid stratification based on predicted prognosis, this would inform the clinical development of a personalized therapeutic approach. It will also result in the identification of novel mediators of tissue damage in RA.
类风湿关节炎(RA)的病情从轻度到重度、持续性不等,其特征为炎症失控,进而导致关节软骨和骨损伤。基于可能的结果制定个体化的治疗方法将有助于实现个体化的治疗方法。
遗传学已知是 RA 结果变异性的重要组成部分,估计占 45-60%。一些候选基因研究与放射学评估的关节损伤变异性有关;然而,需要更全面的全基因组分析来更充分地描述 RA 严重程度的遗传基础。
对出现 RA 的患者进行基因谱分析有可能根据预测的预后进行分层,这将为个性化治疗方法的临床发展提供信息。它还将导致确定 RA 组织损伤的新介质。