Genetic Associations Between The Polymorphisms Of Genes And Susceptibility To Rheumatic Heart Disease In Chinese Hans

Objectives: To investigate the association between tumor necrosis factor-induced protein 3 (TNFAIP3) gene and tumor necrosis factor receptor associated factors 1 (TRAF1) gene and rheumatic heart disease (RHD) in Chinese Hans.Design and methods: In a pair-matched, hospital-based case control study (239 versus 478) conducted in Chinese Hans, we genotyped four tagging single nucleotide polymorphisms (tSNPs) in the TNFAIP3 gene and two polymorphisms in the TRAF1 gene and determined their association with RHD.Results: We observed that rs582757 in intron 5 of the TNFAIP3 gene was significantly associated with RHD in Chinese Hans. There was significant difference of the genotype frequency and the allele frequency in RHD patients compared with those of control subjects. (p=0.001249 and 0.000374, respectively) The C allele was associated with a reduced risk of RHD with the per-allele risk of 0.574 (95%CI 0.42-0.78, P=0.00037) under a additive model. The CC/TC genotype was associated with a reuced risk of 0.535 (95%CI 0.38-0.75, P=0.000328), compared with TT genotypes, assuming a dorminant model. The risk of rs582757 remained significant after adjusting for covariates of age,gender, smoking and alchohol drinking. ( p=0.007 and 0.009, respectively)Conclusions: This study demonstrates for the first time that polymorphisms rs582757 in TNFAIP3 gene may influence the risk of RHD in Chinese Hans. Objectives: To investigate the association between Fc receptor-like 3 (FcRL3) gene,protein tyrosine phosphatase nonreceptortype 22 (PTPN22) gene and complement component 5 (C5) gene and rheumatic heart disease (RHD) in Chinese Hans.Design and methods: In a pair-matched, hospital-based case control study (239 versus 478) conducted in Chinese Hans. We genotyped two tagging single nucleotide polymorphisms (tSNPs) in the FcRL3 gene, two in the PTPN22 gene and seven in the C5 gene, and determined their association with RHD.Results: We observed that rs6691569 in exon 15 of the FcRL3 gene was significantly associated with RHD in Chinese Hans. There was significant difference of the genotype frequency and the allele frequency in RHD patients compared with those of control subjects. ( p=0.000213 and 0.0000542, respectively) The C allele was associated with a reduced risk of RHD with the per-allele risk of 0.537 (95%CI 0.34-0.73, P=0.0000625) under a additive model. The CC/TC genotype was associated with a reuced risk of 0.496 (95%CI 0.35-0.70, P=0.000006), compared with TT genotypes, assuming a dorminant model. The risk of rs6691569 remained significant after adjusting for covariates of age,gender, smoking and alchohol drinking. ( p=0.017 and 0.018, respectively)Conclusions: This study demonstrates for the first time that polymorphisms rs6691569 in FCRL3 gene may influence the risk of RHD in Chinese Hans.