免疫球蛋白调控区HS1,2A增强子的2号等位基因与类风湿性关节炎相关。
Allele *2 of the HS1,2A enhancer of the Ig regulatory region associates with rheumatoid arthritis.
作者信息
Tolusso B, Frezza D, Mattioli C, Fedele A L, Bosello S, Faustini F, Peluso G, Giambra V, Pietrapertosa D, Morelli A, Gremese E, De Santis M, Ferraccioli G F
机构信息
Division of Rheumatology, School of Medicine, Catholic University of the Sacred Heart, Rome, Italy.
出版信息
Ann Rheum Dis. 2009 Mar;68(3):416-9. doi: 10.1136/ard.2008.095414. Epub 2008 Oct 24.
OBJECTIVE
To investigate the role of the HS1,2 enhancer polymorphisms as a new candidate marker for rheumatoid arthritis (RA) and to define the possible association with autoantibody positivity and clinical outcome.
METHODS
Genomic DNA was obtained from two cohorts of patients with RA (100 with early RA (ERA) and 114 with longstanding RA (LSRA)) and from 248 gender-matched controls from the same geographical area. Clinical and immunological characteristics were recorded for all the patients.
RESULTS
The percentage of the 2/2 genotype was higher in patients with ERA (27.0%), and in patients with LSRA (34.2%), than in controls (14.9%) (ERA: OR = 2.11 (95% CI 1.20 to 3.70) vs controls; LSRA: OR = 2.96 (95% CI 1.76 to 5.00) vs controls). A lower representation of allele *3 was present in patients with ERA (2.0%) than in controls (6.0%; OR = 0.32 (95% CI 0.11 to 0.91)). No significant associations were found between polymorphisms and autoantibodies positivity.
CONCLUSION
The HS1,2A allele *2 associates with early and longstanding RA.
目的
研究HS1,2增强子多态性作为类风湿关节炎（RA）新候选标志物的作用，并确定其与自身抗体阳性及临床结局的可能关联。
方法
从两组RA患者（100例早期RA（ERA）患者和114例长期RA（LSRA）患者）以及来自同一地理区域的248名性别匹配的对照者中获取基因组DNA。记录所有患者的临床和免疫学特征。
结果
ERA患者（27.0%）和LSRA患者（34.2%）中2/2基因型的百分比高于对照者（14.9%）（ERA：与对照相比，OR = 2.11（95%CI 1.20至3.70）；LSRA：与对照相比，OR = 2.96（9%CI 1.76至5.00））。ERA患者中*3等位基因（2%）比例低于对照者（6.0%；OR = 0.32（95%CI 0.11至0.91））。多态性与自身抗体阳性之间未发现显著关联。
结论
HS1,2A等位基因*2与早期和长期RA相关。
Zotero 插件