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
  • Hui-Yun Yang
  • Yong-Ming Shen
  • Wei Sun
  • Chun-You Cai
  • Chun-Quan Cai
Original Article

Abstract

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.

Keywords

Neural tube defects FZD3 FZD6 Gene polymorphisms 

Supplementary material

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Supplementary material 1 (JPEG 1038 kb)

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Copyright information

© Springer-Verlag Italia 2014

Authors and Affiliations

  • Ou-Yan Shi
    • 1
  • Hui-Yun Yang
    • 2
  • Yong-Ming Shen
    • 3
  • Wei Sun
    • 1
  • Chun-You Cai
    • 4
  • Chun-Quan Cai
    • 5
  1. 1.School of Basic Medical SciencesTianjin Medical UniversityTianjinChina
  2. 2.School of Biomedical EngineeringTianjin Medical UniversityTianjinChina
  3. 3.Department of Clinical LaboratoryTianjin Children’s HospitalTianjinChina
  4. 4.Research Center of Basic Medical SciencesTianjin Medical UniversityTianjinChina
  5. 5.Department of NeurosurgeryTianjin Children’s HospitalTianjinChina

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