Jacobs J W G Hans, Huizinga Tom W J, Bijlsma J W J Hans, van der Helm-van Mil Annette H M
Universitair Medisch Centrum Utrecht, afd. Reumatologie & Klinische Immunologie, Utrecht, The Netherlands.
Ned Tijdschr Geneeskd. 2009;153:A206.
Thanks to progress in genetic research, various genetic factors involved in the pathogenesis of rheumatoid arthritis (RA) have been discovered.There is a difference in genetic risk factors for RA in patients with or without antibodies against cyclic citrullinated peptides. This has led to the idea that RA is not a single disease, but a heterogeneous syndrome. Currently known genetic risk factors are not suitable for prediction of the risk of individual patients developing RA, nor for early diagnosis, nor for determining the therapeutic strategy.Research into functional defects of gene products of genetic risk variants will increase the understanding of the pathogenesis of RA. This could lead to insights for the development of new specific medication.In the future, research into genetic factors correlated with the severity of RA disease progression or with the effect of antirheumatic medication is expected to yield interesting and hopefully clinically relevant results.
得益于基因研究的进展，已发现了类风湿关节炎（RA）发病机制中涉及的各种遗传因素。抗环瓜氨酸肽抗体阳性或阴性的RA患者在遗传风险因素方面存在差异。这使得人们认为RA不是单一疾病，而是一种异质性综合征。目前已知的遗传风险因素不适用于预测个体患者患RA的风险，也不适用于早期诊断或确定治疗策略。对遗传风险变异基因产物功能缺陷的研究将增进对RA发病机制的理解。这可能为开发新的特效药物提供思路。未来，对与RA疾病进展严重程度或抗风湿药物疗效相关的遗传因素的研究有望产生有趣且有望具有临床相关性的结果。
