Department of Biochemistry and Molecular Biology, Ministry of Education Key Laboratory of Cellular Physiology, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Chin Med J (Engl). 2011 Feb;124(3):374-9.
Neural tube defects are the most common human birth defects. The causes are multifactorial with complex genetic and environmental factors, although the exact genetic causes are unknown. This research was conducted to study the frequency of Msx2 gene polymorphisms in 59 women with a history of pregnancy with a neural tube defect and in 73 healthy controls. We aimed to determine the effect of this genetic polymorphism on the incidence of neural tube defects in the Han Chinese population.
We studied 59 mothers with at least one previous child with a neural tube defect (the case group) and 73 case-control subjects during the same period, from Shanxi Province, China. We analyzed the genotypic distributions and allele frequencies of Msx2 C386T polymorphisms in DNA samples from the case and control groups. A three-dimensional protein model was predicted using Swiss-Pdb Viewer software version 4.0. Disease association was analyzed using chi-square tests.
Significant differences were observed in the genotypes and allele frequencies of the Msx2 C386T allele between the case and control groups (CT: 32% vs. 15%, P = 0.0073 and TT 15% vs. 4%, P = 0.013, respectively). Logistic regression analysis showed that the C386T mutation is a potential risk factor for neural tube defects (P < 0.05; OR: 3.466; 95%CI: 1.831 - 6.560). Three-dimensional structure prediction revealed that the Msx2 C386T mutation results in a threonine substitution for methionine at position 129 of exon 2, which might lead to structural mutations or dysfunctions in the protein encoded by Msx2.
Maternal Msx2 C386T gene polymorphisms were associated with fetal neural tube defects in Han Chinese women in Shanxi Province.
神经管缺陷是最常见的人类出生缺陷。其病因具有多因素性，涉及复杂的遗传和环境因素，尽管确切的遗传原因尚不清楚。本研究旨在探讨 Msx2 基因多态性在 59 例有神经管缺陷妊娠史的妇女和 73 例健康对照者中的频率，以确定该基因多态性对汉族人群神经管缺陷发生率的影响。
我们研究了来自中国山西省的 59 名至少有一名曾患有神经管缺陷患儿的母亲（病例组）和同期的 73 名病例对照者。我们分析了病例组和对照组 DNA 样本中 Msx2 C386T 多态性的基因型分布和等位基因频率。使用 Swiss-Pdb Viewer 软件版本 4.0 预测三维蛋白质模型。采用卡方检验分析疾病相关性。
病例组和对照组的 Msx2 C386T 等位基因基因型和等位基因频率存在显著差异（CT：32%比 15%，P = 0.0073；TT：15%比 4%，P = 0.013）。Logistic 回归分析显示，C386T 突变是神经管缺陷的潜在危险因素（P < 0.05；OR：3.466；95%CI：1.831-6.560）。三维结构预测显示，Msx2 C386T 突变导致第 2 外显子 129 位的蛋氨酸被苏氨酸取代，可能导致 Msx2 编码蛋白的结构突变或功能异常。
山西汉族妇女的 Msx2 C386T 基因多态性与胎儿神经管缺陷有关。
