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

作者：Wu, Jian; Lu, Xiaolin; Wang, Zhen; Shangguan, Shaofang; Chang, Shaoyan; Li, Rui; Wu, Lihua; Bao, Yihua; Niu, Bo; Wang, Li^*; Zhang, Ting

来源：International Journal of Clinical and Experimental Pathology, 2013, 6(12): 2968-2974.

• Neural tube defects (NTDs)
• single nucleotide polymorphisms (SNPs)
• protein kinase A (PKA)
• Sonic hedgehog pathway
• matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF)

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.

• 出版日期2013
• 单位首都儿科研究所