title: 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 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.
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, No. 2 Yabao Road, Chaoyang District, Beijing, 100020, China.
authors.forename: Lihua
authors.initials: L
authors.lastname: Wu
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, No. 2 Yabao Road, Chaoyang District, Beijing, 100020, China.
authors.forename: Xiaolin
authors.initials: X
authors.lastname: Lu
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, No. 2 Yabao Road, Chaoyang District, Beijing, 100020, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Guo
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, No. 2 Yabao Road, Chaoyang District, Beijing, 100020, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, No. 2 Yabao Road, Chaoyang District, Beijing, 100020, China. fangwangab@163.com.
authors.forename: Fang
authors.initials: F
authors.lastname: Wang
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, No. 2 Yabao Road, Chaoyang District, Beijing, 100020, China. yihuabaobj@yeah.net.
authors.forename: Yihua
authors.initials: Y
authors.lastname: Bao
mesh_terms: D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D000483:Alleles; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000208:ethnology* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D009436:Neural Tube Defects / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D000099295:Formyltetrahydrofolate Dehydrogenase
chemical_list: D000444:Aldehyde Dehydrogenase; D000587:Oxidoreductases Acting on CH-NH Group Donors; D000099295:Formyltetrahydrofolate Dehydrogenase
keywords: Aldehyde dehydrogenase family1 L1; Genotype; Neural tube defects; Single-nucleotide polymorphisms