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

• Published in: Clinical and experimental rheumatology Vol. 27; no. 2; pp. 267 - 271
• Main Authors: SANCHEZ, E, CALLEJAS-RUBIO, J. L, GARCIA-PORTALES, R, TOLOSA, C, ORTEGO-CENTENO, N, SANCHEZ-ROMAN, J, GARCIA-HERNANDEZ, F. J, GONZALEZ-ESCRIBANO, M. F, MARTIN, J, LOPEZ-NEVOT, M. A, SABIO, J. M, GONZALEZ-GAY, M. A, JIMENEZ-ALONSO, J, MICO, L, DE RAMON, E, CAMPS, M, SUAREZ, A, GUTIERREZ, C
• Format: Journal Article
• Language: English
• Published: Pisa Clinical and Experimental Rheumatology 01.03.2009
• Subjects: Biological and medical sciences; Case-Control Studies; Diseases of the osteoarticular system; European Continental Ancestry Group; Genetic Predisposition to Disease; Humans; Lupus Erythematosus, Systemic - genetics; Medical sciences; Odds Ratio; Polymorphism, Single Nucleotide; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Toll-Like Receptor 5 - genetics; Toll-Like Receptor 7 - genetics; Immunopathology; Connective tissue disease; Skin disease; Systemic lupus erythematosus; susceptibility; toll-like receptors; Systemic disease; Rheumatology; Autoimmune disease; Toll like receptor; Polymorphisms; Polymorphism
• ISSN: 0392-856X; 1593-098X

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. 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. 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). 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.