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老年相关慢性炎症性疾病患者白细胞介素-13基因rs20541(R130Q)多态性分析

Analysis of the rs20541 (R130Q) polymorphism in the IL-13 gene in patients with elderly-associated chronic inflammatory diseases.

作者信息

Alvarez-Rodríguez Lorena, López-Hoyos Marcos, Carrasco-Marín Eugenio, Mata Cristina, Calvo-Alén Jaime, Aurrecoechea Elena, Blanco Ricardo, Ruiz Teresa, Muñoz Cacho Pedro, Villa Ignacio, Martínez-Taboada Víctor Manuel

机构信息

Servicio de Reumatología, Hospital Universitario Marqués de Valdecilla-IFIMAV, Facultad de Medicina, Universidad de Cantabria, Santander, España.

出版信息

Reumatol Clin. 2012 Nov-Dec;8(6):321-7. doi: 10.1016/j.reuma.2012.04.006. Epub 2012 Jun 28.

Abstract

OBJECTIVE

To investigate whether there is association between the rs20541 (R130Q) polymorphism in the IL-13 gene with disease susceptibility and clinical subsets in patients with elderly-associated inflammatory chronic diseases.

MATERIAL AND METHODS

78 patients with giant cell arteritis (GCA), 174 with polymyalgia rheumatica (PMR), 90 elderly-onset rheumatoid arthritis (EORA), and 465 healthy controls from the same geographic area were studied. The rs20541 (R130Q) polymorphism in the IL-13 gene was evaluated by PCR-RFLP. Circulating levels of IL-13 were measured by ELISA.

RESULTS

A higher frequency of the AA genotype [2.349 (0.994-5.554)], as well as the allele A [1.589 (1.085-2.328] and the A carriers [1.656 (1.021-2.686)] (p<0.05) was observed in the GCA patients. No significant differences were observed in the PMR and EORA patients as compared with the healthy controls. Neither difference was observed among the different disease groups studied. In GCA patients, differences in the genotype were associated with a worse prognosis. In PMR patients, the AA genotype was associated with higher levels of serum IL-13 than the GA one. However, such an association was not detected for controls and the other disease groups.

CONCLUSIONS

GCA is more frequent in carriers of the rs20541 (R130Q) polymorphism in the IL-13 gene. The utility of this polymorphism to predict the GCA prognosis must be confirmed in studies with a higher number of patients.

摘要

目的

研究白细胞介素-13(IL-13)基因rs20541(R130Q)多态性与老年相关性炎症性慢性病患者疾病易感性及临床亚组之间是否存在关联。

材料与方法

研究了来自同一地理区域的78例巨细胞动脉炎(GCA)患者、174例风湿性多肌痛(PMR)患者、90例老年发病类风湿关节炎(EORA)患者和465例健康对照。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法评估IL-13基因的rs20541(R130Q)多态性。采用酶联免疫吸附测定(ELISA)法检测循环中IL-13水平。

结果

在GCA患者中观察到AA基因型[2.349(0.994 - 5.554)]、等位基因A[1.589(1.085 - 2.328)]以及A携带者[1.656(1.021 - 2.686)]的频率更高(p<0.05)。与健康对照相比,PMR和EORA患者未观察到显著差异。在所研究的不同疾病组之间也未观察到差异。在GCA患者中,基因型差异与预后较差相关。在PMR患者中,AA基因型的血清IL-13水平高于GA基因型。然而,在对照组和其他疾病组中未检测到这种关联。

结论

IL-13基因rs20541(R130Q)多态性携带者中GCA更为常见。这种多态性预测GCA预后的效用必须在更多患者的研究中得到证实。

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