Association between PKA gene polymorphism and NTDs in high risk Chinese population in Shanxi

Int J Clin Exp Pathol. 2013 Nov 15;6(12):2968-74. eCollection 2013.

Abstract

Objective: This study aimed to investigate the single nucleotide polymorphisms (SNPs) of PKA and neural tube defects (NTDs) in Chinese population.

Method: 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.

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).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anencephaly / enzymology
  • Anencephaly / ethnology
  • Anencephaly / genetics
  • Asian People / genetics*
  • Case-Control Studies
  • Chi-Square Distribution
  • China / epidemiology
  • Cyclic AMP-Dependent Protein Kinase Catalytic Subunits / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Gestational Age
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Incidence
  • Logistic Models
  • Male
  • Neural Tube Defects / enzymology
  • Neural Tube Defects / ethnology
  • Neural Tube Defects / genetics*
  • Odds Ratio
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Sex Factors
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Substances

  • Cyclic AMP-Dependent Protein Kinase Catalytic Subunits
  • PRKACA protein, human
  • PRKACB protein, human