Connexin40基因多态性与心房颤动的相关性研究

目的探讨Connexin40基因多态性与心房颤动的相关性。方法采用等位基因聚合酶链反应（PCR）的方法，对北京地区110例研究对象进行两种Connexin40单核苷酸多态性的检测，其中孤立性房颤组50例，高血压房颤组18例，单纯高血压组12例，健康对照组30例。结果孤立性房颤、高血压房颇、单纯高血压与健康对照组之间Connexin40启动子区域—44位点（G→A）单核苷酸多态等位基因频率和基因型频率存在分布差异显著（p〈0．05）；房颤组与非房颤组相比，在Connexin40启动子区域-44位点A基因型频率及A等位基因频率高于非房颤组（p〈0．05）；孤立性房颤、高血压房颤、单纯高血压与健康对照组之间Connexin40启动子区域（＋71）的基因型频率及等位基因频率的分布差异没有显著性（p〉0．05）.结论Connexin40基因多态性（-44G→A）与心房颤动发生具有相关性。

The study on the association between human Connexin40 gene polymorphisma and atrial fibrillation

Objectlve To investigate the association between atrial fibrillation and huaman Connexin40 gane polymorphisma （Cx40 -44G→A and ＋71 A→G） in Peking＇s Han population. Metholds A case-control study was performed on 110 subjects,including 50 subjects with lone atrial fibrillation ,18 subjects with atrial fibrillation and essential hy-pertension,12 subjects with essential hypertension and 30 healthy controls.The Connexin40 gene polymorphisma was determined with polymerase chain reaction and restriction fragment analysis. Results We found that the difference in the distribution of polymorphisms at amino acids Cx40 （G→A） between the four different observed groups was significant, and the GIG genotype as well as the G allele at amino acids was significantly more common in the atrial fibrillation group than in the non - atrial fibrillation group. The difference in the distribution of polymorphisms at amino acids Cx40 （＋71 G） between the four different observed groups was not significant. Conclusion The single nueleotide polymorphisms in the promoter region of the Cx40 gane was significantly association with atrial fibrillation .The Cx40 （-44 G→A） was associated with atrial fibrillation.