Zhen Wang
Capital Institute of Pediatrics, China
Title: Association between gene polymorphisms of SHH signaling pathway and risk of neural tube defects in a Chinese population
Biography
Biography: Zhen Wang
Abstract
SHH signaling pathway played an important role in the formation of dorsal ventral neural plate, Neural tube defects (NTDs) were caused through the overactive of SHH signaling pathway. It has been shown in mice that genes of SHH signaling pathway mutations increased the incidence of NTDs, such as spina bifida and brain anomalies. However, the relationship between the single nucleotide polymorphisms (SNPs) of SHH signaling pathway and neural tube defects NTDs remains unclear. A case-control study was designed; NTDs and control samples were obtained from the Lvliang area of Shanxi Province in northern China. Polymorphisms were genotyped for 187 NTD and 212 control samples and genotyping was conducted with a MassArray high-throughput DNA analyzer. The G allele of rs357564 in PTCH1 increased the risk of NTDs especially spina biï¬da. The A allele of rs12132032 in PKA signifcantly increased the incidence of NTDs especially anencephaly. The AG allele of rs10786691 in SUFU was related with NTDs and encephalocele. The C allele of rs3824 in SMO increased the risk of spina bifda. High methylation levels around rs357564 were detected in the control group with the G phenotype of the site in PTCH1. Data shown here implying that the gene polymorphisms of SHH signaling pathway maybe a potential risk factor for NTDs in our study population, and the SNP may have an impact on surrounding methylation status.