Contribution of toll-like receptor 9 gene single-nucleotide polymorphism to systemic lupus erythematosus

• Published in: Rheumatology international 2013-05, Vol.33 (5), p.1121-1125
• Main Authors: Piotrowski, Piotr, Lianeri, Margarita, Wudarski, Mariusz, Olesińska, Marzena, Jagodziński, Paweł P.
• Format: Article
• Language: English
• Subjects: Adult; Antibodies, Antinuclear - blood; Biomarkers - blood; Case-Control Studies; Chi-Square Distribution; DNA - immunology; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Lupus Erythematosus, Systemic - genetics; Lupus Erythematosus, Systemic - immunology; Medicine; Medicine & Public Health; Middle Aged; Odds Ratio; Original; Original Article; Phenotype; Poland; Polymorphism, Single Nucleotide; Rheumatology; Risk Factors; Toll-Like Receptor 9 - genetics
• ISSN: 0172-8172; 1437-160X
• DOI: 10.1007/s00296-012-2509-y

There are several studies on the association of TLR9 polymorphisms with systemic lupus erythematosus (SLE) in different ethnicities; however, the results are inconsistent. Therefore, we studied the distribution of the TLR9 C  >  T (rs352140) polymorphism in patients with SLE ( n  = 254) and controls ( n  = 521) in a Polish population. We did not observe significant differences in the prevalence of the TLR9 C  >  T genotype and alleles between patients with SLE and controls. However, we found a contribution of the T/T and T/C genotypes to renal [OR = 2.949 (95 % CI = 1.523–5.711, p  = 0.001), ( p corr  = 0.017)] and immunologic disorders [OR = 2.938 (95 % CI 1.500–5.755, p  = 0.0012), ( p corr  = 0.0204)] in SLE patients. Moreover, we observed a significant association between the TLR9 T/T and T/C genotypes and the presence of anti-dsDNA Ab [OR = 3.682 (1.647–8.230, p  = 0.001), ( p corr  = 0.017)]. Our studies suggest that the TLR9 C  >  T (rs352140) polymorphism might contribute to renal and immunologic disorders and to the presence of anti-dsDNA Ab.