Unità di Reumatologia, Arcispedale S Maria Nuova, Reggio Emilia, Italy.
Clin Exp Rheumatol. 2009 Mar-Apr;27(2 Suppl 53):S43-7.
To investigate potential associations between toll-like receptor 4 (TLR4) gene polymorphisms and susceptibility to, clinical features, and severity of Behçet's disease (BD).
A total of 189 Italian patients who satisfied the International Study Group criteria for BD and 210 healthy age- and sex-matched blood donors 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 clinical manifestations. Severity score was calculated.
The distribution of allele and genotype frequencies did not differ significantly between the BD patients and the healthy controls. No significant associations were found when BD patients with and those without clinical manifestations were compared. No association between TLR4 polymorphisms and severity score was observed.
Our data suggest that the TLR4 gene polymorphisms are not associated with susceptibility to, clinical expression of, and severity of BD in Italian patients.
探讨 Toll 样受体 4（TLR4）基因多态性与白塞病（BD）易感性、临床特征和严重程度的潜在关联。
采用分子生物学方法，对 189 例符合国际研究组 BD 诊断标准的意大利患者和 210 名年龄和性别匹配的健康献血者进行 TLR4 两个编码单核苷酸多态性（Asp299Gly 和 Thr399Ile）的基因分型。根据临床表现的有无对患者进行亚组分组，并计算严重程度评分。
BD 患者与健康对照组之间的等位基因和基因型频率分布无显著差异。有临床表现和无临床表现的 BD 患者之间也未发现显著关联。TLR4 多态性与严重程度评分之间也无关联。
我们的数据表明，TLR4 基因多态性与意大利患者的 BD 易感性、临床表型和严重程度无关。
