KCNQ1 mutation in patients with lone atrial fibrillation / 中华心血管病杂志

<p><b>OBJECTIVE</b>Recent studies suggest that mutation of the slow delayed rectifier potassium channel [I(Ks)] contributes to familial atrial fibrillation (FAF). In the current study, we explored the potential association between KCNQ1 polymorphism with lone AF (LAF).</p><p><b>METHODS</b>Clinical data and blood samples were collected from 95 Han Chinese patients with LAF and matched healthy controls. Variants of the KCNQ1 gene were identified using single-strand conformational polymorphism (SSCP) analysis. A case-control association study in KCNQ1 identified four known single-nucleotide polymorphisms (SNPs) during SSCP screening of the 95 LAF patients and 190 healthy controls.</p><p><b>RESULTS</b>Three new variations were identified in KCNQ1 from 95 sporadic LAF including 1 in 5'UTR(c.-22T > C), 1 in exon9 synonymous mutation (c.1008C > T) and 1 in intron region (c.1590 + 31A > T). These variations were heterozygous and not presented in 190 healthy controls. Highly significant difference was detected between LAF group and control groups in rs760419 polymorphism. Logistic regression revealed that rs760419 was independent risk factor for LAF(OR = 2.056, P = 0.001).</p><p><b>CONCLUSIONS</b>KCNQ1 mutation is associated with LAF and rs760419 polymorphism is a susceptible marker for LAF.</p>

Ion channelopathies and inherited arrhythmia / 浙江大学学报·医学版

Ion channelopathies are the mainly etiopathogenisis of inherited arrhythmia. Those arrhythmia syndromes are commonly caused by ion channel gene mutation, which can be classified as sodium,potassium and calcium ion channel mutation.Changes in the genes encoding for cardiac ion channel subunits produce modification in the function of the channels, and cause the dysfunctions of cardiac electrical activity; and the clinical manifestation is malignant arrhythmia.