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Int J Clin Exp Pathol 2013;6(12):2968-2974

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

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

Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing 100020, China; Capital University
of Physical Education and Sports, Beijing 100044, China. Equal contributors.

Received September 23, 2013; Accepted October 8, 2013; Epub November 15, 2013; Published December 1, 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. (IJCEP1309056).

Keywords: 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)

Address correspondence to: Li Wang, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics,
Beijing 100020, China. Tel: +86-10-85695585; Fax: +86-10-85631504; E-mail: liwangl1@163.com; lily_wang@yeah.net