Haas J P
Deutsches Zentrum für Kinder- und Jugendrheumatologie, Gehfeldstr 24, 82467 Garmisch-Partenkirchen.
Z Rheumatol. 2010 Aug;69(6):488-95. doi: 10.1007/s00393-010-0632-2.
Several genetic factors have recently been observed as having an influence on susceptibility, course and prognosis of juvenile idiopathic arthritis (JIA): 1. Affected sib pairs were observed to have a low concordance in terms of disease incidence, but significant concordance in terms of subtype and course of disease. 2. Each subtype of JIA was observed to have a distinct genetic background. 3. Some JIA patients do not carry any of the defined risk genes. 4. Most subtypes of JIA have a distinct different genetic background to rheumatoid arthritis in adults. 5. Multiple factors have been observed to be involved in pathogenesis implying genetic and environmental factors. 6. Systemic JIA differs from all other subtypes in terms of genetic background and treatment options. It is currently assumed to be an autoinflammatory disease. 7. Genetic factors not only affect the course of the disease, but also response and complication rate. Increasing knowledge on the factors involved in the pathogenesis of JIA as well as analysis of large patient cohorts in consortiums cooperating on an international level have helped define many important polymorphisms; these are currently the subject of further investigation.
最近观察到几种遗传因素对幼年特发性关节炎(JIA)的易感性、病程和预后有影响:1. 观察到受累同胞对在疾病发病率方面一致性较低,但在疾病亚型和病程方面有显著一致性。2. 观察到JIA的每种亚型都有独特的遗传背景。3. 一些JIA患者不携带任何已确定的风险基因。4. JIA的大多数亚型与成人类风湿关节炎有明显不同的遗传背景。5. 观察到多种因素参与发病机制,这意味着存在遗传和环境因素。6. 全身型JIA在遗传背景和治疗选择方面与所有其他亚型不同。目前认为它是一种自身炎症性疾病。7. 遗传因素不仅影响疾病病程,还影响反应率和并发症发生率。对JIA发病机制相关因素的了解不断增加,以及对国际合作联盟中大量患者队列的分析,有助于确定许多重要的多态性;这些目前是进一步研究的主题。