肿瘤坏死因子受体2型基因多态性与类风湿关节炎严重程度之间无关联：极端表型的比较
No association between tumour necrosis factor receptor type 2 gene polymorphism and rheumatoid arthritis severity: a comparison of the extremes of phenotypes.
作者信息
van der Helm-van Mil A H M, Dieudé P, Schonkeren J J M, Cornélis F, Huizinga T W J
机构信息
Department of Rheumatology, C4-R, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
出版信息
Rheumatology (Oxford). 2004 Oct;43(10):1232-4. doi: 10.1093/rheumatology/keh314. Epub 2004 Jul 13.
OBJECTIVES
To assess the association between the tumour necrosis factor receptor 2 (TNFR2) 196 M/R single-nucleotide polymorphism and rheumatoid arthritis (RA) severity by taking advantage of the extremes of phenotype that exist in arthritis.
METHODS
From the Leiden Early Arthritis Cohort (1700 patients), we selected patients who initially had the diagnosis of definite or probable RA according to the ACR criteria and developed complete remission (71 patients) or had the worst progression, to destructive disease (72 patients). A group of 135 healthy controls was included. The TNFR2 genotype was determined in these groups.
RESULTS
The extremes of phenotypes did not differ significantly in genotype distribution. No difference in genotype distribution between rheumatoid arthritis patients and healthy controls was observed.
CONCLUSION
Our study demonstrates that even by comparing the extremes of phenotypes no association between the TNFR2 genotype and disease severity can be detected in Caucasian patients with sporadic RA.
目的
通过利用关节炎中存在的极端表型，评估肿瘤坏死因子受体2（TNFR2）196 M/R单核苷酸多态性与类风湿关节炎（RA）严重程度之间的关联。
方法
从莱顿早期关节炎队列（1700例患者）中，我们选择了根据美国风湿病学会（ACR）标准最初诊断为明确或可能的RA且病情发展为完全缓解（71例患者）或病情进展最差至破坏性疾病（72例患者）的患者。纳入了135名健康对照者。在这些组中确定TNFR2基因型。
结果
极端表型在基因型分布上无显著差异。类风湿关节炎患者与健康对照者之间的基因型分布未观察到差异。
结论
我们的研究表明，即使通过比较极端表型，在散发性RA的白种人患者中也未检测到TNFR2基因型与疾病严重程度之间的关联。
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