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Association between ALDH1L1 gene polymorphism and neural tube defects in the Chinese Han population

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Abstract

We investigated single-nucleotide polymorphisms (SNPs) in the aldehyde dehydrogenase family1 L1 gene (ALDH1L1) and their association with neural tube defects (NTDs) in the Chinese population. A total of 271 NTDs cases and 192 healthy controls were used in this study. A total of 112 selected SNPs in the ALDH1L1 gene were analyzed using the next-generation sequencing method. Statistical analysis was carried out to investigate the correlation between SNPs and patient susceptibility to NTDs. Statistical analysis revealed a significant correlation between the SNP sites rs4646733, rs2305225, and rs2276731 in the ALDH1L1 gene and NTDs. The TT genotype and T allele of rs4646733 in ALDH1L1 were associated with a significantly increased incidence of NTDs [odds ratio (OR) = 2.16, 95 % confidence interval (CI) 1.199–3.896 for genotype; and OR = 1.46, 95 % CI 1.092–1.971 for allele]. The AA genotype and A allele of rs2305225 in ALDH1L1 were associated with a significantly increased incidence of NTDs (OR = 2.03, 95 % CI 1.202–3.646 for genotype, and OR = 1.44, 95 % CI 1.096–1.905 for allele). The CT genotype and C allele of rs2276731 in ALDH1L1 significantly were associated with an increased incidence of NTDs (OR = 1.67, 95 % CI 1.129–2.491 with genotype, and OR = 1.32, 95 % CI 0.956–1.816 with allele).The polymorphic loci rs4646733, rs2305225, and rs2276731 in the ALDH1L1 gene maybe potential risk factors for NTDs in the Chinese population.

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Acknowledgments

This work was supported by the National Science and Technology Support Program of China (2013BAI12B01).

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    Authors and Affiliations

    1. Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, No. 2 Yabao Road, Chaoyang District, Beijing, 100020, China

      Lihua Wu, Xiaolin Lu, Jin Guo, Ting Zhang, Fang Wang & Yihua Bao

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    1. Lihua Wu
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    2. Xiaolin Lu
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    3. Jin Guo
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    4. Ting Zhang
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    5. Fang Wang
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    Correspondence to Fang Wang or Yihua Bao.

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    The authors declare that there are no conflicts of interest.

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    L. Wu and X. Lu contributed equally to this work.

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    Wu, L., Lu, X., Guo, J. et al. Association between ALDH1L1 gene polymorphism and neural tube defects in the Chinese Han population. Neurol Sci 37, 1049–1054 (2016). https://doi.org/10.1007/s10072-016-2527-8

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