SCN5A基因变异与左心室肌致密化不全心力衰竭相关性研究

Study of the relationship between SCN5A variants and left ventricular noncompaction with heart failure

目的:分析左心室肌致密化不全(LVNC)并发心力衰竭者心脏钠通道alpha亚单位SCN5A基因变异情况,探讨该基因与LVNC心力衰竭的关系。方法:从62例LVNC的先证者外周血中提取DNA,并行SCN5A基因的DNA序列分析来检测该基因的变异。结果:共发现了7种变异,分别是rs6599230:G>A、c.453C>T、c.1141-3C>A、rs1805124:A>G(p.H558R)、rs1805125:C>T(p.P1090L)、c.3996C>T和rs1805126:T>C。合并有心力衰竭者SCN5A基因的变异率(53%)高于无心力衰竭者(4%),差异有统计学意义(P=0.000 2)。结论:SCN5A基因变异与LVNC并发心力衰竭有关。

To analyze the gene SCN5A variant in cases of left ventricular noncompaction（ LVNC ） with heart failure and to investigate the relationship between SCN5A variant and left ventricular noncompaction with heart failure. We measured the frequency of the human cardiac sodium channel alpha-subunit gene （SCN5A） variants in LVNC patients with or without heart failure. Methods： The peripheral blood were detectede in 62 probands with LVNC, and DNA was isolated. Blood samples were screened for variants in SCN5A using DNA sequencing. Results： Seven variants, rs6599230： G 〉 A, c. 453C 〉 T, c. 1141-3C 〉 A, rs1805124： A 〉 G （p. H558R）, rs1805125 ： C 〉 T（ p. P1090L）, c. 3996C 〉 T, and rs1805126：T 〉 C were identified in 19 cases. The frequency of $CN5A variants was significantly higher in the patients with heart failure than that in patients without heart failure. Conclusion： The presence of SCN5A variants are correlated with heart failure in patients with LVNC.