Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect

Background To screen the single nucleotide polymorphisms (SNPs) in the coding regions of VANGL and FZD family members related to the plane cell polarity (PCP) signaling pathway in neural tube defects (NTDs) patients, so as to provide theoretical and experimental basis for the prevention and treatment of NTDs by intervening PCP signal transduction. Methods 112 NTDs patients were collected as the case group and 112 craniocerebral trauma patients as control. Afterwards, blood genomic DNA was extracted and sequenced. The distribution of SNP alleles and genotypes between case and control groups was analyzed. Finally, the NTD rat model was constructed, and the effect of SNPs on the expression level of VANGL and FZD genes was verified by qRT‐PCR. Results GC genotype was newly found at VANGL1 c.346G>A, as well as AT genotype in FZD6 c.97A>G. The distribution of VANGL1 c.346g>A allele and genotype was statistically different between the case and control groups (p A, which resulted in the transformation of the 116th amino acid from alanine to proline. Allele and genotype distribution of VANGL1 c.346G>A between case and control groups were statistically different. The expression of FZD6 in NTDs fetuses was significantly increased, but no difference in VANGL1 expression was found.