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

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 Tallele of rs4646733 in ALDH1L1 were associated with a significantly increased incidence of NTDs [odds ratio (OR)=2.16, 95% confidence interval (CI) 1.199-3.896for genotype; and OR=1.46, 95% CI 1.092-1.971for allele]. The AA genotype and Aallele of rs2305225 in ALDH1L1 were associated with a significantly increased incidence of NTDs (OR=2.03, 95% CI 1.202-3.646for genotype, and OR=1.44, 95% CI 1.096-1.905for allele). The CT genotype and Callele of rs2276731 in ALDH1L1 significantly were associated with an increased incidence of NTDs (OR=1.67, 95% CI 1.129-2.491with genotype, and OR=1.32, 95% CI 0.956-1.816with allele).The polymorphic loci rs4646733, rs2305225, and rs2276731 in the ALDH1L1 gene maybe potential risk factors for NTDs in the Chinese population.