title: Association of SMO polymorphisms and neural tube defects in the Chinese population from Shanxi Province.
abstract: OBJECTIVE
  This study aimed to investigate the single nucleotide polymorphisms (SNPs) of SMO and neural tube defects (NTDs) in Chinese population.
  
  
  METHODS
  A total of 113 NTDs cases and 138 healthy controls were used in this study. 10 selected single nucleotide polymorphism (SNP) sites in the SMO gene were analyzed with MassArray high-throughput DNA analyzer with matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry. A series of statistical methods were carried out to investigate the correlation between the SNPs and the patient susceptibility to NTDs.
  
  
  RESULTS
  The C allele of rs3824 increased the risk of spina bifida (OR=2.52; 95% CI: 1.18, 5.38; p=0.026) but not the risk of anencephaly or encephalocele. Significant differences were found between spina bifida and controls when we compared the GG group with the CC+CG group (OR=2.66; 95% CI: 1.26, 5.61; p=0.011). CC+CG genotype was a risk factor for spina bifida.
  
  
  CONCLUSIONS
  The gene polymorphism loci rs3824 of SMO was closely related to spina bifida in Chinese population from Shanxi. The haplotype GA in rs3824 and rs9706 increased the risk of NTDs particularly spina bifida in women.
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics Beijing 100020, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Wang
authors.forename: Shaofang
authors.initials: S
authors.lastname: Shangguan
authors.forename: Xiaolin
authors.initials: X
authors.lastname: Lu
authors.forename: Shaoyan
authors.initials: S
authors.lastname: Chang
authors.forename: Rui
authors.initials: R
authors.lastname: Li
authors.forename: Lihua
authors.initials: L
authors.lastname: Wu
authors.forename: Yihua
authors.initials: Y
authors.lastname: Bao
authors.forename: Bo
authors.initials: B
authors.lastname: Niu
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
keywords: Neural tube defects (NTDs); SMO; matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF); single nucleotide polymorphisms (SNPs)