title: Association between PKA gene polymorphism and NTDs in high risk Chinese population in Shanxi.
abstract: OBJECTIVE
  This study aimed to investigate the single nucleotide polymorphisms (SNPs) of PKA and neural tube defects (NTDs) in Chinese population.
  
  
  METHODS
  A total of 183 NTDs cases and 200 healthy controls were used in this study. 7 selected single nucleotide polymorphism (SNP) sites in the PKA 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
  Statistical analysis showed a significant correlation between the SNP sites rs12132032 in PRKACB and NTDs. The AA genotype, A-allele and dominant AA in rs12132032 significantly increased the incidence of NTDs especially anencephaly (OR=3.87, 95% CI: 1.80-8.34 with genotype; OR=2.08, 95% CI: 1.43-3.04 with allele; OR=3.10, 95% CI: 1.53-6.26 with dominant). The T-allele of rs594631 in PRKACB was correlative with NTDs in male but not in female.
  
  
  CONCLUSIONS
  The gene polymorphism loci rs12132032 in PRKACB maybe a potential risk factor for anencephaly in Chinese population from Shanxi, while gender susceptibility may influence the correlation.
authors.affiliation: Capital University of Physical Education and Sports Beijing 100044, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Wu
authors.forename: Xiaolin
authors.initials: X
authors.lastname: Lu
authors.forename: Zhen
authors.initials: Z
authors.lastname: Wang
authors.forename: Shaofang
authors.initials: S
authors.lastname: Shangguan
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
mesh_terms: D000757:Anencephaly / Q000201:enzymology / Q000208:ethnology / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D054751:Cyclic AMP-Dependent Protein Kinase Catalytic Subunits / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D015994:Incidence; D016015:Logistic Models; D008297:Male; D009436:Neural Tube Defects / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012737:Sex Factors; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D054751:Cyclic AMP-Dependent Protein Kinase Catalytic Subunits; C517757:PRKACA protein, human; C517760:PRKACB protein, human
keywords: Neural tube defects (NTDs); Sonic hedgehog pathway; matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF); protein kinase A (PKA); single nucleotide polymorphisms (SNPs)