Association Analysis Of Single-nucleotide Polymorphisms In Toll-like Receptor 5 And 9 Genes With Rheumatic Heart Disease In Chinese Han Population

Objective To investigate the association of single-nucleotide polymorphisms in toll-like receptor 5 and 9 genes and rheumatic heart disease.Methods A group of 239 patients with rheumatic heart disease and 478 healthy controls were studied. Three tag single-nucleotide polymorphisms in toll-like receptor 5 gene(rs1640827, rs2353476, and rs5744140) and two tag single-nucleotide polymorphisms in toll-like receptor 9 gene(rs5743845, rs352139) were selected for the analysis. The single-nucleotide polymorphisms at the five sites were identified with microarray hybridization analysis.Results①rs5744140 There were no significant differences in the distribution of alleles(P=0.447,OR=1.181,95%CI 0.769～1.815) and genotypes(P=0.528) between patients with rheumatic heart disease and controls for rs5744140.②rs1640827 The frequency of A allele was significantly higher in patients with rheumatic heart disease than that in controls(P=0.003,OR=0.495,95%CI 0.307～0.799). The frequencies of G/A and A/A genotypes was significantly higher in patients with rheumatic heart disease(P=0.019).③rs2353476 The frequency of C allele was significantly higher in patients with rheumatic heart disease(P=0.0008,OR=1.703,95%CI 1.244～2.332). And the frequency of C/C genotype was significantly higher in patients with rheumatic heart disease(P=0.002).④rs5743845 There were no significant differences in the distribution of alleles(P=0.413, OR=0.826, 95%CI 0.522～1.307) and genotypes(P=0.684) between patients with rheumatic heart disease and controls for rs5743845.⑤rs352139 There were no significant differences in the distribution of alleles(P=0.478,OR=1.083,95%CI 0.869～1.350) and genotypes(P=0.746) between patients with rheumatic heart disease and controls for rs352139.⑥Haplotype analysis showed increased frequencies of TLR5 CGC(P=0.011) and CAC(P=0.025) haplotypes in patients with rheumatic heart disease when compared to controls.Conclusion The genetic variants of toll-like receptor 5 gene might be associated with rheumatic heart disease in Chinese Han population, while single-nucleotide polymorphisms rs5743845 and rs352139 in toll-like receptor 9 gene have no association with rheumatic heart disease in Chinese Han population.