Gu Ruoyi, Sheng Wei, Ma Xiaojing, Huang Guoying
1Children's Hospital of Fudan University,Shanghai,China.
Cardiol Young. 2018 Mar;28(3):397-402. doi: 10.1017/S1047951117002001. Epub 2017 Dec 4.
Atrial septal defect is one of the most common CHD. The pathogenesis of atrial septal defect still remains unknown. Cx43 is the most prevalent connexin in the mammalian heart during development. Its genetic variants can cause several CHD. The aim of our study was to investigate the association of genetic variations of the Cx43 with sporadic atrial septal defect. A total of 450 paediatric patients were recruited, including 150 cases with atrial septal defect and 300 healthy controls. The promoter region of Cx43 was analysed by sequencing after polymerase chain reaction. All data were analysed by using the Statistic Package for Social Science 19.0 software. The frequency of the single nucleotide polymorphism rs2071166 was significantly higher in atrial septal defect cases than in healthy controls. The CC genotype at rs2071166 site in Cx43 was correlated with an increased risk for atrial septal defect (p<0.0001, odds ratio=3.891, 95% confidence interval 1.948-7.772) and the C allele was positively correlated with atrial septal defect (p=0.007, odds ratio=1.567, 95% confidence interval 1.129-2.175). In conclusion, our results confirmed that rs2071166 in Cx43 may be relevant with an increased atrial septal defect risk.
房间隔缺损是最常见的先天性心脏病之一。房间隔缺损的发病机制仍不清楚。Cx43是哺乳动物心脏发育过程中最普遍的连接蛋白。其基因变异可导致多种先天性心脏病。本研究的目的是探讨Cx43基因变异与散发性房间隔缺损的相关性。共招募了450名儿科患者，其中包括150例房间隔缺损患者和300名健康对照。聚合酶链反应后通过测序分析Cx43的启动子区域。所有数据均使用社会科学统计软件包19.0进行分析。单核苷酸多态性rs2071166在房间隔缺损病例中的频率显著高于健康对照。Cx43中rs2071166位点的CC基因型与房间隔缺损风险增加相关（p<0.0001，比值比=3.891，95%置信区间1.948-7.772），C等位基因与房间隔缺损呈正相关（p=0.007，比值比=1.567，95%置信区间1.129-2.175）。总之，我们的结果证实Cx43中的rs2071166可能与房间隔缺损风险增加有关。
