Unità Operativa di Reumatologia, Arcispedale S. Maria Nuova, Reggio Emilia, Italy.
Clin Exp Rheumatol. 2009 Jan-Feb;27(1 Suppl 52):S40-4.
To investigate potential associations between toll-like receptor 4 (TLR4) gene polymorphisms and susceptibility to, and clinical features of giant cell arteritis (GCA).
A total of 155 patients with biopsy-proven GCA who were residents of Reggio Emilia, Italy, and 210 population-based controls from the same geographical area were genotyped for two coding single nucleotide polymorphisms of TLR4 (Asp299Gly and Thr399Ile) by molecular methods. The patients were subgrouped according to the presence or absence of polymyalgia rheumatica and severe ischemic complications (visual loss and/or cerebrovascular accidents).
The distribution of allele and genotype frequencies did not differ significantly between GCA patients and healthy controls. Carriers of the -299 G allele (G/A+ G/G) [odds ratio (OR) 1.78, 95% confidence intervals (CI) 0.90-3.50)] were more frequent among GCA patients than among the controls, but the difference was not statistically significant. No significant associations were found when GCA patients with and without PMR or with and without severe ischemic complications were compared.
Our data suggest that the TLR4 gene polymorphisms are not associated with susceptibility to, and clinical expression of, GCA in Italian patients.
探讨 Toll 样受体 4（TLR4）基因多态性与巨细胞动脉炎（GCA）易感性、临床特征的潜在关联。
采用分子生物学方法对意大利雷焦艾米利亚地区 155 例经活检证实的 GCA 患者和 210 名来自同一地理区域的人群对照进行 TLR4 两个编码单核苷酸多态性（Asp299Gly 和 Thr399Ile）的基因分型。根据有无巨细胞性多肌痛和严重缺血性并发症（视力丧失和/或脑血管意外）对患者进行亚组分析。
GCA 患者与健康对照组之间等位基因和基因型频率的分布无显著差异。GCA 患者中 -299G 等位基因（G/A+G/G）携带者（OR 1.78，95%CI 0.90-3.50）较对照组更为常见，但差异无统计学意义。在比较伴有或不伴有 PMR 以及伴有或不伴有严重缺血性并发症的 GCA 患者时，未发现显著相关性。
我们的数据表明，TLR4 基因多态性与意大利患者的 GCA 易感性和临床表型无关。
