Association of single-nucleotide polymorphisms in toll-like receptor 5 gene with rheumatic heart disease in Chinese Han population.

This case-control study was carried out to investigate the association of single-nucleotide polymorphisms (SNPs) in toll-like receptor 5 (TLR5) gene and rheumatic heart disease (RHD) among the Chinese Han population. A group of 239 patients with RHD and 478 healthy controls were studied. Three tag single-nucleotide polymorphisms (tSNPs) in TLR5 gene (rs1640827, rs2353476, and rs5744140) were identified with microarray hybridization analysis. Significant differences were observed in the distribution of alleles and genotypes between the patients with RHD and the controls for either rs1640827 or rs2353476. Patients with RHD also have higher frequencies of CGC and CAC haplotypes. These findings indicate that the genetic variants of TLR5 gene might be associated with RHD in Chinese Han population.