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| IJCEM Copyright © 2008-All rights reserved. Published by e-Century Publishing Corporation, Madison, WI 53711 |
Int J Clin Exp Med 2013;6(10):960-966
Original Article
Association of SMO polymorphisms and neural tube defects in the Chinese
population from Shanxi Province
Zhen Wang, Shaofang Shangguan, Xiaolin Lu, 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. Equal
contributors.
Received October 9, 2013; Accepted October 29, 2013; Epub October 25, 2013; Published October 30, 2013
Abstract: Objective: This study aimed to investigate the single nucleotide polymorphisms (SNPs) of SMO and neural tube defects
(NTDs) in Chinese population. Method: A total of 113 NTDs cases and 138 healthy controls were used in this study. 10 selected single
nucleotide polymorphism (SNP) sites in the SMO 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: The C allele of rs3824 increased
the risk of spina bifida (OR=2.52; 95% CI: 1.18, 5.38; p=0.026) but not the risk of anencephaly or encephalocele. Significant differences
were found between spina bifida and controls when we compared the GG group with the CC+CG group (OR=2.66; 95% CI: 1.26, 5.61;
p=0.011). CC+CG genotype was a risk factor for spina bifida. Conclusions: The gene polymorphism loci rs3824 of SMO was closely
related to spina bifida in Chinese population from Shanxi. The haplotype GA in rs3824 and rs9706 increased the risk of NTDs
particularly spina bifida in women. (IJCEM1308009).
Keywords: Neural tube defects (NTDs), single nucleotide polymorphisms (SNPs), SMO, 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
Original Article
Association of SMO polymorphisms and neural tube defects in the Chinese
population from Shanxi Province
Zhen Wang, Shaofang Shangguan, Xiaolin Lu, 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. Equal
contributors.
Received October 9, 2013; Accepted October 29, 2013; Epub October 25, 2013; Published October 30, 2013
Abstract: Objective: This study aimed to investigate the single nucleotide polymorphisms (SNPs) of SMO and neural tube defects
(NTDs) in Chinese population. Method: A total of 113 NTDs cases and 138 healthy controls were used in this study. 10 selected single
nucleotide polymorphism (SNP) sites in the SMO 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: The C allele of rs3824 increased
the risk of spina bifida (OR=2.52; 95% CI: 1.18, 5.38; p=0.026) but not the risk of anencephaly or encephalocele. Significant differences
were found between spina bifida and controls when we compared the GG group with the CC+CG group (OR=2.66; 95% CI: 1.26, 5.61;
p=0.011). CC+CG genotype was a risk factor for spina bifida. Conclusions: The gene polymorphism loci rs3824 of SMO was closely
related to spina bifida in Chinese population from Shanxi. The haplotype GA in rs3824 and rs9706 increased the risk of NTDs
particularly spina bifida in women. (IJCEM1308009).
Keywords: Neural tube defects (NTDs), single nucleotide polymorphisms (SNPs), SMO, 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
