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

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• 作者：Lihua Wu ; Xiaolin Lu ; Jin Guo ; Ting Zhang ; Fang Wang ; Yihua Bao
• 刊名：Neurological Sciences
• 出版年：2016
• 出版时间：July 2016
• 年：2016
• 卷：37
• 期：7
• 页码：1049-1054
• 全文大小：352 KB
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Neurology
  Neuroradiology
  Neurosurgery
  Psychiatry
  
• 出版者：Springer Milan
• ISSN：1590-3478
• 卷排序：37

文摘

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.KeywordsAldehyde dehydrogenase family1 L1Neural tube defectsSingle-nucleotide polymorphismsGenotype