Neurological Sciences

, Volume 35, Issue 11, pp 1701–1706

Polymorphisms in FZD3 and FZD6 genes and risk of neural tube defects in a northern Han Chinese population


  • Ou-Yan Shi
    • School of Basic Medical SciencesTianjin Medical University
  • Hui-Yun Yang
    • School of Biomedical EngineeringTianjin Medical University
  • Yong-Ming Shen
    • Department of Clinical LaboratoryTianjin Children’s Hospital
  • Wei Sun
    • School of Basic Medical SciencesTianjin Medical University
  • Chun-You Cai
    • Research Center of Basic Medical SciencesTianjin Medical University
    • Department of NeurosurgeryTianjin Children’s Hospital
Original Article

DOI: 10.1007/s10072-014-1815-4

Cite this article as:
Shi, O., Yang, H., Shen, Y. et al. Neurol Sci (2014) 35: 1701. doi:10.1007/s10072-014-1815-4


Neural tube defects (NTDs) are the most common and severe malformations of the central nervous system. The association of single nucleotide polymorphisms (SNPs) of the Frizzled 3 (FZD3) and Frizzled 6 (FZD6) genes and NTDs in the Han population of northern China was principally studied. One synonymous SNP (rs2241802) in FZD3 gene and three nonsynonymous SNPs (rs827528, rs3808553 and rs12549394) in FZD6 gene were analyzed by polymerase chain reaction (PCR) and sequencing methods in 135 NTD patients and 135 normal controls. The allele, genotype and haplotype frequencies were calculated and analyzed to examine the relationship between FZD3/FZD6 SNPs and NTDs. Both T allele and TT genotype frequencies of the FZD6 rs3808553 loci in the NTDs group were significantly higher than those in the controls, and children with T allele and TT genotype were associated with increased NTDs risk (OR = 1.575, 95 % CI 1.112–2.230, P = 0.010 and OR = 2.811, 95 % CI 1.325–5.967, P = 0.023, respectively). There were no differences among different genotypes or alleles in other three SNPs. Haplotypes A-G-C and A-T-C in FZD6 were found associated with NTDs in the case–control study (OR = 0.560, 95 % CI 0.378–0.830, P = 0.004 and OR = 1.670, 95 % CI 1.126–2.475, P = 0.011, respectively). The rs3808553 of FZD6 is obviously associated with NTDs in Han population of northern China. The TT genotype may increase risk for NTDs.


Neural tube defectsFZD3FZD6Gene polymorphisms

Copyright information

© Springer-Verlag Italia 2014