Relationship of the CAG repeat polymorphism of the MEF2A gene and coronary artery disease in a Chinese population
Relationship of the CAG repeat polymorphism of the MEF2A gene and coronary artery disease in a Chinese population
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DOI：
10.1515/cclm.2007.159
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发表时间：
2007-01-01
影响因子：
6.8
通讯作者：
Kang, Jian
中科院分区：
文献类型：
--
作者：
Han, Yaling;Yang, Yong;Kang, Jian
背景资料：最近，在人肌细胞增强因子-2A（MEF 2A）基因突变的报道是负责常染色体显性形式的冠状动脉疾病（CAD）。此外，还描述了散发性CAD患者中的错义突变。这两个结果都支持MEF 2A与CAD/心肌梗死之间的致病关系。方法：采用单链构象多态性PCR和直接测序技术对MEF 2A基因第7和第11外显子进行筛查，以明确MEF 2A与冠心病的关系。外显子11显示高度的异质性，这是由一个多聚精氨酸（CAG）（n）多态性。不同（CAG）（9）等位基因的频率在患者组和对照组之间不相同。值得注意的是，（CAG）1等位基因的分布频率在患者组中高于对照组（p < 0.001）。在logistic回归模型中，该效应与年龄、性别、高血压、糖尿病、糖尿病和吸烟无关（p=0.001，比值比1.245，95%CI 1.095-1.417）。（CAG）9等位基因与冠状动脉病变程度相关（p趋势0.000）。结论：CAG重复序列多态性与中国人群冠心病相关，（CAG）（9）等位基因可能是冠心病的独立预测因子。
Background: Recently, a mutation in the human myocyte enhancer factor-2A (MEF2A) gene was reported to be responsible for an autosomal dominant form of coronary artery disease (CAD). In addition, missense mutations in sporadic CAD patients were also described. Both results support the disease-causing relationship between MEF2A and CAD/myocardial infarction. On the other hand, conflicting hypotheses have been put forward in other studies.Methods: We screened exons 7 and 11 of MEF2A through single-stranded conformation polymorphism PCR and direct sequencing to clarify the relationship between MEF2A and CAD in an independent case-control study involving 726 individuals in China.Results: Exon 11 showed a high degree of heterogeneity, which was caused by a polyglutannine (CAG)(n) polymorphism. Frequencies for the different (CAG)(9) alleles were not the same between patient and control groups. Of note, the distribution frequency of the (CAG), allele was higher in the patient group than in the control group (p < 0.001). This effect was independent of age, gender, hypertension, diabetes mellitus, hyperlipidernia and smoking in a logistic regression model (p=0.001, odds ratio 1.245, 95% CI 1.095-1.417). It was also observed that the (CAG)9 allele was related to the extent of CAD, which was defined as no CAD, or single-, double- or triple-vessel disease (p trend 0.000).Conclusions: Based on our data, we speculate that the CAG repeat polymorphism is associated with coronary heart disease in the Chinese population and the (CAG)(9) allele may be an independent predictive factor for CAD.