Wang Zhen, Shangguan Shaofang, Lu Xiaolin, Chang Shaoyan, Li Rui, Wu Lihua, Bao Yihua, Niu Bo, Wang Li, Zhang Ting
Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics Beijing 100020, China.
Int J Clin Exp Med. 2013 Oct 25;6(10):960-6. eCollection 2013.
This study aimed to investigate the single nucleotide polymorphisms (SNPs) of SMO and neural tube defects (NTDs) in Chinese population.
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.
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.
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.
本研究旨在调查中国人群中SMO基因的单核苷酸多态性（SNP）与神经管缺陷（NTDs）的关系。
本研究共纳入113例神经管缺陷病例和138例健康对照。采用基质辅助激光解吸/电离飞行时间（MALDI-TOF）质谱的MassArray高通量DNA分析仪分析SMO基因中10个选定的单核苷酸多态性（SNP）位点。采用一系列统计方法研究SNP与患者神经管缺陷易感性之间的相关性。
rs3824的C等位基因增加了脊柱裂的风险（OR=2.52；95%CI：1.18，5.38；p=0.026），但未增加无脑儿或脑膨出的风险。当我们将GG组与CC+CG组进行比较时，发现脊柱裂与对照组之间存在显著差异（OR=2.66；95%CI：1.26，5.61；p=0.011）。CC+CG基因型是脊柱裂的危险因素。
SMO基因的多态性位点rs3824与山西汉族人群脊柱裂密切相关。rs3824和rs9706中的单倍型GA增加了神经管缺陷尤其是女性脊柱裂的风险。
