한빛사논문
- 조회1,938
Ji-Young Lee1,2†, Tae-Hoon Kim1†, Pil-Sung Yang1, Hong Euy Lim3, Eue-Keun Choi4, Jaemin Shim5, Eunsoon Shin6, Jae-Sun Uhm1, Jin-Seok Kim3, Boyoung Joung1, Seil Oh4, Moon-Hyoung Lee1, Young-Hoon Kim5, and Hui-Nam Pak1,6*
1Division of Cardiology, Department of Internal Medicine, Yonsei University Health System, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Republic of Korea; 2Cardiovascular Genome Center, Yonsei University Health System, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Republic of Korea; 3Division of Cardiology, Cardiovascular Center, Korea University Guro Hospital, 148 Gurodong-ro, Guro-gu, Seoul 08308, Republic of Korea; 4Division of Cardiology, Department of Internal Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea; 5Division of Cardiology, Department of Internal Medicine, Korea University Anam Hospital, 73 Inchon-Ro, Seongbuk-gu, Seoul 02841, Republic of Korea; and 6DNA Link Incorporaton, 150 Bugahyeon-ro, Seodaemun-gu, Seoul 03759, Republic of Korea
* Corresponding author.
† The first two authors contributed equally to the study.
Abstract
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.
Keywords: Genome-wide association study, Atrial fibrillation, Single nucleotide polymorphism
논문정보
- Research article
- 2017년 04월 (BRIC 등록일 2017-07-10)
- 국내 연구진
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