Genetic Variants Associated With Susceptibility to Atrial Fibrillation in a Japanese Population

2017 ◽  
Vol 33 (4) ◽  
pp. 443-449 ◽  
Author(s):  
Lian Liu ◽  
Yusuke Ebana ◽  
Jun-ichi Nitta ◽  
Yoshihide Takahashi ◽  
Shinsuke Miyazaki ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Genetic Variants ◽  
Japanese Population

scholarly journals Genetic Variants Associated With Atrial Fibrillation and PR Interval Following Cardiac Surgery

2015 ◽  
Vol 29 (3) ◽  
pp. 605-610 ◽  
Author(s):  
Martin I. Sigurdsson ◽  
Jochen D. Muehlschlegel ◽  
Amanda A. Fox ◽  
Mahyar Heydarpour ◽  
Peter Lichtner ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Cardiac Surgery ◽  
Genetic Variants ◽  
Pr Interval

GWAS contribution to atrial fibrillation and atrial fibrillation-related stroke: pathophysiological implications

2019 ◽  
Vol 20 (10) ◽  
pp. 765-780 ◽  
Author(s):  
Diana Cruz ◽  
Ricardo Pinto ◽  
Margarida Freitas-Silva ◽  
José Pedro Nunes ◽  
Rui Medeiros
Keyword(s):  
Atrial Fibrillation ◽  
Genetic Variants ◽  
Complex Traits ◽  
Association Studies ◽  
Cardioembolic Stroke ◽  
Risk Scores ◽  
Genome Wide Association Studies ◽  
Genetic Determinants ◽  
Genome Wide ◽  
Genome Wide Significance

Atrial fibrillation (AF) and stroke are included in a group of complex traits that have been approached regarding of their study by susceptibility genetic determinants. Since 2007, several genome-wide association studies (GWAS) aiming to identify genetic variants modulating AF risk have been conducted. Thus, 11 GWAS have identified 26 SNPs (p < 5 × 10-2), of which 19 reached genome-wide significance (p < 5 × 10-8). From those variants, seven were also associated with cardioembolic stroke and three reached genome-wide significance in stroke GWAS. These associations may shed a light on putative shared etiologic mechanisms between AF and cardioembolic stroke. Additionally, some of these identified variants have been incorporated in genetic risk scores in order to elucidate new approaches of stroke prediction, prevention and treatment.

scholarly journals Genetic variants on chromosomes 7p31 and 12p12 are associated with abnormal atrial electrical activation in patients with early‐onset lone atrial fibrillation

2019 ◽  
Vol 24 (6) ◽  
Author(s):  
Mariam B. Seifert ◽  
Morten S. Olesen ◽  
Ingrid E. Christophersen ◽  
Jonas B. Nielsen ◽  
Jonas Carlson ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Genetic Variants ◽  
Early Onset ◽  
Electrical Activation ◽  
Lone Atrial Fibrillation

P1392Next generation sequencing in lone atrial fibrillation patients

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
I Rudaka ◽  
D Rots ◽  
O Kalejs ◽  
L Gailite
Keyword(s):  
Atrial Fibrillation ◽  
Sudden Cardiac Death ◽  
Genetic Variants ◽  
Cardiac Death ◽  
Structural Heart Disease ◽  
Missense Variant ◽  
Lone Atrial Fibrillation ◽  
Excessive Alcohol Consumption ◽  
Pathogenic Variants ◽  
Rare Genetic Variants

Abstract Background. Minor part of atrial fibrillation (AF) patients develops the disease without any well-known risk factors, which is a particular form of the disease, known as a lone AF. Rare genetic variants were described as causative for lone AF. The aim of this study was to investigate occurrence of rare genetic variants in lone AF patients. Material and Methods. We performed Mendeliome sequencing for 21 lone AF patients. Lone AF was defined as AF in individuals younger than 65 years in the absence of cardiovascular or structural heart disease, endocrinologic or pulmonary disease, chronic kidney disease, obesity and excessive alcohol consumption. Data analysis was performed by current laboratory pipeline. We analyzed 453 cardiomyopathy, arrhythmias and sudden cardiac death related genes. Results. In eight out of 21 (38%) lone AF patients rare likely pathogenic variants were found (Table 1.). Seven rare truncating TTN variants and one LMNA missense variant were observed. Four unrelated patients were positive for the same TTN variant c.13696 C &gt; T; p.(Gln4566Ter). The same variant was previously found in ARVC patient in our laboratory. Segregation analysis and phenotyping of relatives is ongoing. Conclusions. Rare genetic variants are common causes of the lone atrial fibrillation. TTN gene variant c.13696C &gt; T; p.(Gln4566Ter) is a potential founder variant in the Baltic population. Table 1. Genetic variants in lone AF Gender Age of AF onset Genetic variant Family history Male 53 LMNA: p.(Ser326Thr) AF in mother Male 11 TTN: p.(Trp31854Ter) AF in father Male 30 TTN: p.(GLn4566Ter) AF in uncle Female 45 TTN: p.(GLn4566Ter) Negative Male 37 TTN: p.(GLn4566Ter) AF in father Male 25 TTN: p.(GLn4566Ter) AF in father, maternal and paternal grandmother Female 60 TTN: p.(Arg27414Ter) Sudden cardiac death at the age of 50 in grand father Female 52 TTN: p.(Arg1012Ter) AF in mother

scholarly journals INCIDENCE OF DEMENTIA IN RELATION TO GENETIC VARIANTS AT 4Q25 AND APOE ɛ4 IN ATRIAL FIBRILLATION PATIENTS

2013 ◽  
Vol 61 (10) ◽  
pp. E302 ◽  
Author(s):  
Jeffrey Rollo ◽  
Stacey Knight ◽  
Heidi May ◽  
Jeffrey Anderson ◽  
J. Muhlestein ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Genetic Variants ◽  
Incidence Of Dementia

scholarly journals Candidate gene approach to identifying rare genetic variants associated with lone atrial fibrillation

Heart Rhythm ◽  
2014 ◽  
Vol 11 (1) ◽  
pp. 46-52 ◽  
Author(s):  
Peter Weeke ◽  
Babar Parvez ◽  
Marcia Blair ◽  
Laura Short ◽  
Christie Ingram ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Candidate Gene ◽  
Genetic Variants ◽  
Candidate Gene Approach ◽  
Lone Atrial Fibrillation ◽  
Rare Genetic Variants

scholarly journals Identification of atrial fibrillation associated genes and functional non-coding variants

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
Antoinette F. van Ouwerkerk ◽  
Fernanda M. Bosada ◽  
Karel van Duijvenboden ◽  
Matthew C. Hill ◽  
Lindsey E. Montefiori ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Genetic Variants ◽  
Target Gene ◽  
Target Genes ◽  
Association Studies ◽  
Regulatory Region ◽  
Regulatory Elements ◽  
Genome Wide Association Studies ◽  
Cx43 Expression

Abstract Disease-associated genetic variants that lie in non-coding regions found by genome-wide association studies are thought to alter the functionality of transcription regulatory elements and target gene expression. To uncover causal genetic variants, variant regulatory elements and their target genes, here we cross-reference human transcriptomic, epigenomic and chromatin conformation datasets. Of 104 genetic variant regions associated with atrial fibrillation candidate target genes are prioritized. We optimize EMERGE enhancer prediction and use accessible chromatin profiles of human atrial cardiomyocytes to more accurately predict cardiac regulatory elements and identify hundreds of sub-threshold variants that co-localize with regulatory elements. Removal of mouse homologues of atrial fibrillation-associated regions in vivo uncovers a distal regulatory region involved in Gja1 (Cx43) expression. Our analyses provide a shortlist of genes likely affected by atrial fibrillation-associated variants and provide variant regulatory elements in each region that link genetic variation and target gene regulation, helping to focus future investigations.

scholarly journals GENETIC VARIANTS IN SOX5 AND CAV1 ARE ASSOCIATED WITH ABNORMAL ATRIAL ACTIVATION IN PATIENTS WITH LONE ATRIAL FIBRILLATION

2014 ◽  
Vol 63 (12) ◽  
pp. A458
Author(s):  
Mariam Bashir Seifert ◽  
Morten S. Olesen ◽  
Ingrid E. Christophersen ◽  
Jonas B. Nielsen ◽  
Jonas Carlson ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Genetic Variants ◽  
Lone Atrial Fibrillation ◽  
Atrial Activation
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