Genetic Variations Of KCNQ1 And KCNJ2 In Lone Atrial Fibrillation

Objectives Cardiac Potassium Ion channel mutation have been associated with Lone Atrial Fibrillation(LAF),this study is about to investigate the association between LAF and KCNQ1 and KCNJ2 gene variations.Methods Variations scanning with Single Strand Conformation Polymorphisms(SSCP) of KCNQ1 and KCNJ2 were performed in 95 sporadic LAF patients and 190 controls from a Chinese Han population,then,we confirmed the results using direct DNA sequencing.On the basis of Single Nucleotide Polymorphisms(SNPs) we achieved,the relationship between LAF and relevant SNPs were carried out by association study.Results Three new variations were identified in KCNQ1,including 1 in 5'UTR(22C>T),1 in exon9 synonymous mutation(1008C>T) and 1 in intron14-15(2790180A>T).these variations were heterozygous and not presented in 190 health controls.Highly signification difference was detected between case and control groups in rs2075870 of KCNQ1,Logistic regression revealed that rs2075870 is highly revelant with LAF;there is no significant difference in rs1800170 and rs2519184 in KCNQ1.Conclusions The variations of KCNQ1 is very common in Chinese Han people,KCNQ1 is revelant with LAF,KCNQ1 is the susceptiable gene for LAF.The functions of these variations in KCNQ1 needed to be further studied.We didn't find KCNJ2 gene variation in 95 sporadic LAF.