Woo Jin-Hyun, Sung Yoon-Kyoung, Lee Jin-Sook, Chung Won Tae, Choe Jung-Yoon, Song Gwan Gyu, Yoo Dae-Hyun
Division of Rheumatology, Department of Internal Medicine, Korea University College of Medicine, Korea.
J Rheumatol. 2009 Feb;36(2):347-50. doi: 10.3899/jrheum.071254.
Fcgamma receptors (FcgammaR) have important functions in the regulation of immune response and clearance of immune complex. High levels of immunoglobulins have been observed in patients with the active stage of adult onset Still's disease (AOSD), and high-dose intravenous immunoglobulin treatment has decreased the disease activity of AOSD. We investigated polymorphisms of FcgammaR as genetic factors influencing susceptibility or disease course of AOSD in Korea.
We genotyped the FcgammaRIIA H/R131, IIIA F/V176, and IIIB NA1/NA2 loci in 98 patients with AOSD and 151 healthy controls. Genotyping was performed using sequence-specific PCR. Patients with AOSD were subdivided into groups according to disease course: monocyclic systemic, polycyclic systemic, or chronic articular type. Allelic, genotypic, and haplotypic associations were analyzed by chi-square test.
No significant skewing in any of the 3 FcgammaR polymorphisms was found between Korean AOSD patients and controls. FcgammaRIIA R/R131 and R/H131 genotype in patients with chronic articular-type disease was more frequent than in controls (p = 0.006 and p(corr) = 0.018). No differences of genotypic and allelic frequencies were found between other disease course types and controls. Haplotype IIA R131-IIIA F176-IIIB NA2 was more frequent in AOSD patients than in controls (p = 0.021).
Although FcgammaR polymorphisms are not associated with development of AOSD in Koreans, the haplotype IIA R131-IIIA F176-IIIB NA2 may be associated with AOSD. Also, the FcgammaRIIA polymorphism may be associated with chronic articular-type AOSD. We need to identify whether these polymorphisms are associated with a response to anti-tumor necrosis factor agents in patients with AOSD.
Fcγ受体(FcγR)在免疫反应调节和免疫复合物清除中具有重要作用。在成人斯蒂尔病(AOSD)活动期患者中观察到高水平的免疫球蛋白,大剂量静脉注射免疫球蛋白治疗可降低AOSD的疾病活动度。我们研究了FcγR基因多态性作为影响韩国AOSD易感性或病程的遗传因素。
我们对98例AOSD患者和151例健康对照进行了FcγRIIA H/R131、IIIA F/V176和IIIB NA1/NA2位点的基因分型。使用序列特异性PCR进行基因分型。AOSD患者根据病程分为:单循环全身型、多循环全身型或慢性关节型。通过卡方检验分析等位基因、基因型和单倍型关联。
在韩国AOSD患者和对照之间,未发现3种FcγR多态性中的任何一种有明显偏差。慢性关节型疾病患者的FcγRIIA R/R131和R/H131基因型比对照更常见(p = 0.006,校正p值 = 0.018)。在其他病程类型和对照之间未发现基因型和等位基因频率的差异。单倍型IIA R131-IIIA F176-IIIB NA2在AOSD患者中比对照更常见(p = 0.021)。
虽然FcγR基因多态性与韩国人AOSD的发生无关,但单倍型IIA R131-IIIA F176-IIIB NA2可能与AOSD有关。此外,FcγRIIA基因多态性可能与慢性关节型AOSD有关。我们需要确定这些多态性是否与AOSD患者对抗肿瘤坏死因子药物的反应有关。