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

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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.

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Acknowledgments

We are grateful to all the families for their NTD-affected children enrolled in this study. This work was supported by the Ministry of Science and Technology of PR China, the National “973″ Program on Population and Health (No. 2013CB945404), the National Natural Science Foundation of China (No. 81101176), the Natural Science Foundation of Tianjin City of China (No. 14JCYBJC25000), the Key Project of Tianjin Health Care Professionals (No. 12KG116), the Science and Technology Foundation of the Tianjin Bureau of Public Health (No. 2011KZ87).

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China

    Ou-Yan Shi & Wei Sun

  2. School of Biomedical Engineering, Tianjin Medical University, Tianjin, China

    Hui-Yun Yang

  3. Department of Clinical Laboratory, Tianjin Children’s Hospital, Tianjin, China

    Yong-Ming Shen

  4. Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, China

    Chun-You Cai

  5. Department of Neurosurgery, Tianjin Children’s Hospital, Tianjin, China

    Chun-Quan Cai

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  1. Ou-Yan Shi
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  2. Hui-Yun Yang
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  3. Yong-Ming Shen
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  4. Wei Sun
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Corresponding author

Correspondence to Chun-Quan Cai.

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O.-Y. Shi and H.-Y. Yang contributed equally to this paper.

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Shi, OY., Yang, HY., Shen, YM. et al. Polymorphisms in FZD3 and FZD6 genes and risk of neural tube defects in a northern Han Chinese population. Neurol Sci 35, 1701–1706 (2014). https://doi.org/10.1007/s10072-014-1815-4

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  • DOI: https://doi.org/10.1007/s10072-014-1815-4

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