title: Association between PTCH1 polymorphisms and risk of neural tube defects in a Chinese population.
abstract: BACKGROUND
  SHH signaling pathway plays an important role in the formation of the neural plate and is involved in the regulation of the dorsoventral (DV) axis of the neural tube. Some neural tube defects (NTDs) may be caused through overactivation of the SHH signaling pathway. The PTCH1 gene, encoding a negative regulator of SHH signaling, affects neural tube closure in animal models. However, in humans, the relationship between single nucleotide polymorphisms (SNPs) of the PTCH1 gene and neural tube defects remains unclear.
  
  
  METHODS
  MassARRAY®GENOTYPER™ was used to genotype 18 SNPs of the PTCH1 gene in 187 NTDs and 212 control samples, to determine whether PTCH1 polymorphisms are related to NTDs. MassARRAY®EpiTYPER™ was performed to assess whether methylation modifications may be associated with SNP genotypes in this Chinese population.
  
  
  RESULTS
  Increased risk for spina bifida was observed with the G allele of c.3944C>T and the T allele of c.1729™2350G>A in female patients when compared to the normal control group. High methylation levels were detected in those controls bearing the G allele of c.3944C>T.
  
  
  CONCLUSIONS
  In summary, polymorphisms of the PTCH1 gene may be genetic predisposing factors for spina bifida in the population studied. In addition, methylation modifications associated with the c.3944C>T polymorphism, may provide protection.
authors.affiliation: Capital Institute of Pediatrics, Beijing, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Wang
authors.forename: Li
authors.initials: L
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: Jianhua
authors.initials: J
authors.lastname: Wang
authors.forename: Jizhen
authors.initials: J
authors.lastname: Zou
authors.forename: Lihua
authors.initials: L
authors.lastname: Wu
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
authors.forename: Yi
authors.initials: Y
authors.lastname: Luo
mesh_terms: D044466:Asian People / Q000235:genetics*; D019175:DNA Methylation; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D053823:Hedgehog Proteins / Q000235:genetics; D006801:Humans; D016015:Logistic Models; D009436:Neural Tube Defects / Q000453:epidemiology* / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics*; D012307:Risk Factors; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology*
chemical_list: D053823:Hedgehog Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; C509239:SHH protein, human