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Korean atrial fibrillation network genome-wide association study for early-onset atrial fibrillation identifies novel susceptibility loci

 Ji-Young Lee  ;  Tae-Hoon Kim  ;  Pil-Sung Yang  ;  Hong Euy Lim  ;  Eue-Keun Choi  ;  Jaemin Shim  ;  Eunsoon Shin  ;  Jae-Sun Uhm  ;  Jin-Seok Kim  ;  Boyoung Joung  ;  Seil Oh  ;  Moon-Hyoung Lee  ;  Young-Hoon Kim  ;  Hui-Nam Pak 
 EUROPEAN HEART JOURNAL, Vol.38(34) : 2586-2594, 2017 
Journal Title
Issue Date
Adaptor Proteins, Signal Transducing/genetics* ; Adult ; Age of Onset ; Atrial Fibrillation/genetics* ; Atrial Fibrillation/surgery ; Basic Helix-Loop-Helix Transcription Factors/genetics* ; Catheter Ablation ; Chromosomes, Human, Pair 4/genetics ; Female ; Genetic Loci ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Republic of Korea
Atrial fibrillation ; Genome-wide association study ; Single nucleotide polymorphism
Aims: Some genetic susceptibility loci for atrial fibrillation (AF) identified by genome-wide association studies (GWAS) in a European database showed ethnic differences in the Asian population. We explored novel AF susceptibility variants for patients with early-onset AF (≤60 years old) among Korean patients who underwent AF catheter ablation. Methods and results: A genome-wide association study (GWAS) was conducted with 672 cases (≤60 years old, Yonsei AF Ablation cohort) and 3700 controls (Korea Genome Epidemiology Study). Association analysis was performed under an additive model of logistic regression, and replication study was conducted with 200 independent cases of Korean AF Network and 1812 controls. Five previously proven genetic loci (1q24/PRRX1, 4q25/PITX2, 10q24/NEURL, 12q24/TBX5, and 16q22/ZFHX3) were validated. Two novel genetic loci associated with early-onset AF were found on chromosomes 1q32.1/PPFIA4 (rs11579055, P = 6.84 × 10-10) and 4q34.1/HAND2 (rs8180252, P = 1.49 × 10-11) and replicated in an additional independent sample of the Korean AF Network. The identified loci implicate candidate genes that encode proteins related to cell-to-cell connection, hypoxic status, or long non-coding RNA. Conclusion: Two novel genetic loci for early-onset AF were identified in Korean patients who underwent catheter ablation. One of the novel susceptibility loci on chromosome 4 has strong associations with previously proven gene in a European ancestry database.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Tae-Hoon(김태훈) ORCID logo https://orcid.org/0000-0003-4200-3456
Pak, Hui Nam(박희남) ORCID logo https://orcid.org/0000-0002-3256-3620
Yang, Pil Sung(양필성)
Uhm, Jae Sun(엄재선) ORCID logo https://orcid.org/0000-0002-1611-8172
Lee, Moon Hyoung(이문형) ORCID logo https://orcid.org/0000-0002-7268-0741
Joung, Bo Young(정보영) ORCID logo https://orcid.org/0000-0001-9036-7225
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