Clinical Study And Identification Of Rs55679316 Mutation Of LIMK1 Gene In Patients With Atrial Fibrillation

Part Ⅰ General data and clinical analysis of patients with atrial fibrillationObjective: To explore the related clinical factors of atrial fibrillationMethods: A total of 100 patients with atrial fibrillation（atrial fibrillation group）and100 volunteers（control group）who were hospitalized in the Department of cardiovascular medicine of Lianyungang Second People’s Hospital Affiliated to Bengbu Medical College from March 2020 to March 2021 were selected for comparative analysis of general clinical data.Results: There were significant differences in age,left atrial diameter（LAD）and brain natriuretic peptide（BNP）between AF group and control group（P < 0.05）;Logistic regression analysis showed that age,LAD,left ventricular end diastolic dimension（LVEDd）and BNP were independent risk factors for atrial fibrillation.Conclusion: The incidence of atrial fibrillation was correlated with age,left atrial diameter,left ventricular end diastolic diameter and brain natriuretic peptide.Part Ⅱ Identification of LIMK1 gene rs55679316 mutation in patients with atrial fibrillation based on whole-exome sequencing technologyObjective: To investigate the screening and identification of rs55679316 mutation of LIMK1 gene associated with atrial fibrillation.Methods: Three patients with atrial fibrillation in the Department of Cardiology,Lianyungang Second People’s Hospital Affiliated to Bengbu Medical College（atrial fibrillation group）and three volunteers in the same period（control group）were randomly selected.Peripheral venous blood was collected,whole exome sequencing and bioinformatics analysis were performed by whole blood genomic DNA.Results: The sequencing data in this study are of good quality and meet the analysis needs.Through whole genome exon sequencing,2099 mutation sites meeting the requirements are screened,including 1800 single nucleotide polymorphisms（SNP）sites and 299 insertion and deletion variations（Indels）sites.It is found that 8 gene mutation sites in this study are closely related to atrial fibrillation through phenolyzer prediction system,Two of the three patients with atrial fibrillation carried the rs55679316 mutation of LIMK1 gene.Combined with bioinformatics analysis,it was considered that the mutation site was located in 7q11 23 exons 9 and 10,in which the missense mutation in SNV mutation occurred in exon 9.After the missense mutation,the G base in the middle position of codon 1163 was mutated into a base,resulting in the amino acid at position 388 after gene coding from arginine to cysteine.The missense mutation in SNV mutation occurred in exon 10.After the missense mutation,the G base in the middle position of codon 1265 was mutated into a base,resulting in the amino acid at position 3422 after gene coding from arginine to cysteine.It was found that the frequency of LIMK1 gene was less than 0 01.Combined with the clinical and basic research in recent years,it further supports that the rs55679316 locus of LIMK1 gene may be a candidate mutation site for the pathogenesis of atrial fibrillation.Conclusion: Rs55679316 locus of LIMK1 gene may be the pathogenic mutation of atrial fibrillation.