Role of rs1343151 IL23R and rs3790567 IL12RB2 Polymorphisms in Biopsy-proven Giant Cell Arteritis
Role of rs1343151 IL23R and rs3790567 IL12RB2 Polymorphisms in Biopsy-proven Giant Cell Arteritis
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DOI：
10.3899/jrheum.101046
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发表时间：
2011-05-01
影响因子：
3.9
通讯作者：
Gonzalez-Gay, Miguel A.
中科院分区：
文献类型：
--
作者：
Rodriguez-Rodriguez, Luis;Carmona, Francisco D.;Gonzalez-Gay, Miguel A.
目标。评估rs1343151 IL23R和rs3790567 IL12RB2多态性与巨细胞动脉炎（GCA）之间的潜在关联。我们还研究了这些多态性是否会影响gca的表型表达。总共评估了357名西班牙活检证实的GCA患者和574名匹配的对照组。从患者和对照组的外周血中提取DNA。采用预先设计的Tay Man等位基因鉴别法和聚合酶链反应扩增法对样品进行rs1343151和rs3790567 IL12RB2多态性分型。关于rs1343151 IL23R多态性，GCA患者与健康对照组的基因型和等位基因频率无显著差异。与对照组相比，GCA患者中rs3790567 il2rb2变异的次要等位基因A的频率增加（分别为30.1%对25.7%;p = 0.039, OR 1.25, 95% CI 1.01-1.54）。与对照组相比，GCA患者携带rs3790567 il2rb2多态性的次要等位基因A （GA+AA基因型）的频率增加（52.8% vs 44.4%; p = 0.013, OR 1.40, 95% CI 1.06-1.85）。虽然发现次要等位基因（a - a）在视神经缺血并发症患者亚组中的联合发生率高于两个主要等位基因的联合发生率（G-G, p = 0.029）或与其他等位基因的联合发生率（p = 0.035），但logistic回归分析显示，在校正潜在混杂因素后，这种关联不再显著（a - a vs G-G: or 2.10, 95% CI 0.88-5.04, p = 0.096）。我们的研究结果支持rs3790567 IL12RB2多态性在GCA发病机制中的潜在影响。（首次发布2011年2月1日；J Rheumatol 2011;38:889-92; doi:10.3899/ jrheumat. 101046）
Objective. To assess the potential association between the rs1343151 IL23R and the rs3790567 IL12RB2 polymorphisms and giant cell arteritis (GCA). We also studied whether these polymorphisms might influence the phenotypic expression of GCA.Methods. In total, 357 Spanish patients with biopsy-proven GCA and 574 matched controls were assessed. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for the rs1343151 IL23R and the rs3790567 IL12RB2 polymorphisms using a predesigned Tay Man allele discrimination assay and by polymerase chain reaction amplification.Results. Regarding the rs1343151 IL23R polymorphism, no significant differences in the genotype or allele frequencies between GCA patients and healthy controls were observed. The frequency of the minor allele A of the rs3790567 ILI2RB2 variant was increased in GCA patients compared with controls (30.1% vs 25.7%, respectively; p = 0.039, OR 1.25, 95% CI 1.01-1.54). An increased frequency of subjects carrying the minor allele A (GA+AA genotypes) of the rs3790567 ILI2RB2 polymorphism was found among GCA patients compared with controls (52.8% vs 44.4%; p = 0.013, OR 1.40, 95% CI 1.06-1.85). Although a higher frequency of the combination of minor alleles (A-A) in the subgroup of patients with visual ischemic complications compared with the combination of both major alleles (G-G; p = 0.029) or with the other allelic combinations (p = 0.035) was found, logistic regression analysis showed that this association was no longer significant after adjustment for potential confounding factors (A-A vs G-G: OR 2.10, 95% CI 0.88-5.04, p = 0.096).Conclusion. Our results support a potential influence of the rs3790567 IL12RB2 polymorphism in the pathogenesis of GCA. (First Release Feb 1 2011; J Rheumatol 2011;38:889-92; doi:10.3899/jrheum.101046)