对Toll样受体5（TLR5）和Toll样受体7（TLR7）作为系统性红斑狼疮易感性候选基因的研究。

Investigation of TLR5 and TLR7 as candidate genes for susceptibility to systemic lupus erythematosus.

作者信息

Sánchez E, Callejas-Rubio J L, Sabio J M, Gónzalez-Gay M A, Jimenez-Alonso J, Micó L, de Ramón E, Camps M, Suarez A, Gutierrez C, Garcia-Portales R, Tolosa C, Ortego-Centeno N, Sánchez-Román J, Garcia-Hernández F J, Gónzalez-Escribano M F, Martin J

机构信息

Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain.

出版信息

Clin Exp Rheumatol. 2009 Mar-Apr;27(2):267-71.

PMID:19473567

Abstract

OBJECTIVES

The aim of this study was to evaluate the relevance of genetic variants of TLR5 (rs5744168) and TLR7 (rs179008) gene in systemic lupus erythematosus (SLE) in a Spanish population.

MATERIAL AND METHODS

Our study population consisted of 752 SLE patients and 1107 healthy controls. All individual were of Spanish Caucasian origin. The TLR5 and TLR7 polymorphisms were genotyped using a PCR system with pre-developed TaqMan allelic discrimination assay.

RESULTS

No statistically significant differences were observed when the allele and genotype distribution of TLR5 rs5744168 and TLR7 rs179008 polymorphisms was compared between SLE patients and healthy controls. A significant increase frequency in the CC genotype of the TLR5 rs5744168 polymorphism among SLE patients without nephritis was found (93% vs. 87% in SLE patients with nephritis, p=0.03, OR=2.11 95%CI 0.93-3.51). However, this difference did not reach statistical significance in the allele frequencies (p=0.08).

CONCLUSION

These results suggest that the tested variations of TLR5 and TLR7 genes do not confer a relevant role in the susceptibility or severity to SLE in the Spanish population.

摘要

目的

本研究旨在评估西班牙人群中Toll样受体5（TLR5，rs5744168）和Toll样受体7（TLR7，rs179008）基因的遗传变异与系统性红斑狼疮（SLE）的相关性。

材料与方法

我们的研究人群包括752例SLE患者和1107例健康对照。所有个体均为西班牙白种人。采用预开发的TaqMan等位基因鉴别分析的PCR系统对TLR5和TLR7多态性进行基因分型。

结果

比较SLE患者和健康对照之间TLR5 rs5744168和TLR7 rs179008多态性的等位基因和基因型分布时，未观察到统计学上的显著差异。在无肾炎的SLE患者中发现TLR5 rs5744168多态性的CC基因型频率显著增加（无肾炎的SLE患者中为93%，有肾炎的SLE患者中为87%，p=0.03，OR=2.11，95%CI 0.93-3.51）。然而，该差异在等位基因频率方面未达到统计学显著性（p=0.08）。