Abstract Gout is the most common arthritis and it is associated to urate monosodium crystals deposits in articulations, kidney and soft tissue. The urate monosodium crystals deposit initiates an inflammatory response; mediated by NLRP3 inflammasome, with the release of interleukin 1β. Toll-like receptor 4 (TLR4) is involved in this response. Although serum urate level is a strong predictor of incident gout, only about half of those with serum urate concentrations ≥10mg/dL develop clinically evident gout over 15 years. Therefore, it has been postulated that other factors, including genetic or immunity related factors, seems to be necessary to the apparition of the acute gout flare beside hyperuricemia. The association of TLR4 single nucleotide polymorphism (SNP) rs2149356 and gout risk is controversial with different results according to different populations. Methods: We have analyzed rs2149356 polymorphism of TLR4 gene in DNA extracted from 125 well characterized Caucasian gouty patients and 300 Caucasian health controls, by automated DNA sequencing. Results: Allele frequency distribution in control samples were CC: 0.467 (140); CA 0.437 (131); and AA 0.097 (29).Allele distribution in gouty patients were CC: 0.512 (64); CA: 0.392 (49); and AA: 0.096 (12). No significant association was found between TRL4 rs2149356 polymorphism and risk of gout in the analyzed population. Conclusions: Allele frequency for rs2149356 in our population was similar to other population of European ancestry, and in these populations; the polymorphism was not related to gouty risk.

中文翻译：

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Toll 样受体 4 (TLR4) 多态性 rs2149356 和西班牙队列中的痛风风险

摘要 痛风是最常见的关节炎，与关节、肾脏和软组织中的尿酸盐单钠晶体沉积有关。尿酸盐单钠晶体沉积引发炎症反应；由 NLRP3 炎症小体介导，释放白细胞介素 1β。Toll 样受体 4 (TLR4) 参与了这种反应。尽管血清尿酸水平是痛风发作的强有力预测因素，但在 15 年内，只有大约一半的血清尿酸浓度≥10mg/dL 的患者会出现临床上明显的痛风。因此，推测其他因素，包括遗传或免疫相关因素，似乎是高尿酸血症之外急性痛风发作的必要条件。TLR4 单核苷酸多态性 (SNP) rs2149356 与痛风风险的关联存在争议，不同人群的结果不同。方法：我们通过自动 DNA 测序分析了从 125 名特征良好的白种人痛风患者和 300 名白种人健康对照提取的 DNA 中 TLR4 基因的 rs2149356 多态性。结果：对照样品中的等位基因频率分布为 CC：0.467 (140)；CA 0.437 (131); 和 AA 0.097 (29)。痛风患者的等位基因分布为 CC：0.512 (64)；CA：0.392 (49)；和 AA：0.096 (12)。在所分析的人群中，未发现 TRL4 rs2149356 多态性与痛风风险之间存在显着关联。结论：我们人群中 rs2149356 的等位基因频率与其他欧洲血统人群相似，并且在这些人群中；