Association of Neuregulin 1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C Polymorphisms with Susceptibility to Non-Syndromic Hirschsprung's Disease.

BACKGROUND: Hirschsprung's disease (HSCR) is a heterogeneous congenital malformation of the enteric nervous system with a complex genetic etiology. We investigated if there was an association between Neuregulin-1 (NRG1) rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms and the risk of HSCR. Methods: We determined and compared the frequency of NRG1 polymorphisms rs7835688 G > C, rs16879552 T > C and rs2439302 G > C in 70 children with HSCR and 90 controls by TaqMan SNPs genotyping assays. Results: No significant differences in allele or genotype frequencies of NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms were observed between HSCR cases and controls. Analyses showed that the NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms were not significantly associated with an increased risk of non-syndromic HSCR. Conclusions: Our findings suggested that NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms are not a risk factor in development of HSCR.

Association of TNF-α rs1800629, CASP3 rs72689236 and FCGR2A rs1801274 Polymorphisms with Susceptibility to Kawasaki Disease: A Comprehensive Meta-Analysis.

BACKGROUND: Kawasaki Disease (KD) is a multifactorial condition at the junction of infectious diseases, immunology, rheumatology, and cardiology. The aim of this study is to derive a more precise estimation of the association of TNF-α rs1800629, CASP3 rs72689236 and FCGR2A rs1801274 polymorphisms with risk of KD. Methods: PubMed, EMBASE, CNKI databases were searched to identify all relevant studies. Pooled odds ratios (OR) with 95% confidence intervals (CI) were calculated using CMA 2.2 software. Results: A total of 25 studies including eleven studies on TNF-α rs1800629, five studies on CASP3 rs72689236 and nine studies on FCGR2A rs1801274 were selected. Overall, pooled data revealed that CASP3 rs72689236 and FCGR2A rs1801274 polymorphisms were significantly associated with an increased risk of KD. However, there was no significant association between TNF-α rs1800629 and KD. Conclusions: This meta-analysis suggested that CASPS rs72689236 and FCGR2A rs1801274 polymorphisms may modulate individual susceptibility to KD.