title: Association between MTHFR gene polymorphism and NTDs in Chinese Han population.
abstract: OBJECTIVE
  This study aims to investigate the single nucleotide polymorphisms (SNPs) of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and neural tube defects (NTDs) in Chinese population.
  
  
  METHODS
  A total of 271 NTDs cases and 192 healthy controls were used in this study. Fifty-two selected single nucleotide polymorphism (SNP) sites in the MTHFR gene were analyzed with next-generation sequencing method. A series of statistical methods were carried out to investigate the correlation between the SNPs and the patient susceptibility to NTDs.
  
  
  RESULTS
  Statistical analysis showed a significant correlation between the SNP sites rs1801133 in MTHFR gene and NTDs. The GG genotype, G allele of rs1801133 in MTHFR significantly decreased the incidence of NTDs (OR = 0.449, 95% CI: 0.255-0.789 with genotype, and OR = 0.669, 95% CI: 0.508-0.881 with allele).
  
  
  CONCLUSIONS
  The gene polymorphism loci rs1801133 in MTHFR gene maybe potential risk factors for NTD in Chinese population.
authors.affiliation: Scientific Research Administration, Capital Institute of Pediatrics 2 Yabao Road, Chaoyang District, Beijing 100020, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Yu
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics 2 Yabao Road, Chaoyang District, Beijing 100020, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Wang
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics 2 Yabao Road, Chaoyang District, Beijing 100020, China.
authors.forename: Yihua
authors.initials: Y
authors.lastname: Bao
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics 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 2 Yabao Road, Chaoyang District, Beijing 100020, China.
authors.forename: Li
authors.initials: L
authors.lastname: Quan
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics 2 Yabao Road, Chaoyang District, Beijing 100020, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Lu
keywords: 10-methylenetetrahydrofolate reductase (MTHFR); 5; Neural tube defects (NTDs); single nucleotide polymorphisms (SNPs)