IL-6 promoter polymorphism at position -174 modulates the phenotypic expression of polymyalgia rheumatica in biopsy-proven giant cell arteritis.
IL-6 promoter polymorphism at position -174 modulates the phenotypic expression of polymyalgia rheumatica in biopsy-proven giant cell arteritis.
复制标题
IL-6启动子-174位多态性调节活检证实的巨细胞动脉炎中风湿性多肌痛的表型表达。
DOI：
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发表时间：
2002
影响因子：
3.7
通讯作者：
W. Ollier
中科院分区：
文献类型：
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作者：
M. González;A. Hajeer;A. Dababneh;C. García‐Porrúa;D. Mattey;M. Amoli;W. Thomson;W. Ollier
目标
巨细胞动脉炎(GCA)和风湿性多发性肌痛(PMR)是多种遗传和环境因素相关的疾病。GCA和PMR都具有强烈的急性相反应的特点。在这些综合征中，已经观察到IL-6的产生增加。为了进一步研究IL-6在GCA和PMR中的遗传影响，我们检测了西班牙西北部一系列被诊断为GCA和/或PMR的患者中IL-6启动子5‘端-174位的多态性(G到C)。
方法
对两名经活检证实的GCA患者(其中30名合并PMR)和84名单纯PMR患者进行了研究。患者和种族匹配的对照组(n=124)来自卢戈地区(西班牙西北部的加利西亚)。采用分子生物学方法对患者和对照组进行了-174位点的HLADRB1和IL-6基因分型。
结果
有PMR表现的GCA患者IL-6-174等位基因C频率较单纯GCA患者略高(Pcorr=0.06；OR=2.3)。GCA合并PMR患者CC基因频率高于单纯GCA患者，差异有统计学意义(Pcorr 0.02)。在伴有PMR的GCA患者中，等位基因C的频率增加在HLA-DRBI*04阴性患者中更为常见。然而，这种多态与GCA的缺血事件的高风险或PMR的复发无关。
结论
IL-6基因5‘启动子区域-174位的等位基因C可能与经活检证实未携带HLA-DRBI*04等位基因的GCA患者的PMR相关。
OBJECTIVES
Giant cell arteritis (GCA) and polymyalgia rheumatica (PMR) are related diseases in which diverse genetic and environmental factors are implicated. Both GCA and PMR are characterized by an intense acute phase reaction. In these sYndromes the increased production of IL-6 has been observed. To investigate further the genetic influence of IL-6 in GCA and PMR we have examined the IL-6 promoter polymorphism (G to C) at position -174 in the 5' region in a series of patients from Northwest Spain diagnosed with GCA and/or PMR.
METHODS
Sixtxy-two biopsy-proven GCA patients (30 of them with associated PMR) and 84 patients with isolated PMR were studied. Patients and ethnically matched controls (n = 124) were from the Lugo region (Galicia, Northwest Spain). Patients and controls were genotyped for HLA-DRB1 and IL-6 polymorphism at position -174 by molecular methods.
RESULTS
IL-6-174 allele C was marginally increased infrequency in GCA patients with PMR manifestations compared with isolated GCA (Pcorr 0.06; OR = 2.3). The increase in the frequency of the CC genotype in GCA patients with PMR versus those with isolated GCA was statistically significant (Pcorr 0.02). The increased frequency of allele C in GCA patients with PMR was more commonly observed in HLA-DRBI *04 negative patients. However, this polymorphism was not associated with a higher risk of ischemic events in GCA or with relapses in PMR.
CONCLUSION
Allele C at position -174 in the 5' promoter region of the IL-6 gene may be associated with PMR in biopsy-proven GCA patients not carrying HLA-DRBI *04 alleles.