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Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.

Hum. Mol. Genet.2014 Dec 15;23(24):6659-67. Epub 2014 Jul 17
Kyung-Won Hong 1 , Ji Eun Lim 2 , Jong Wook Kim 3 , Yasuharu Tabara 4 , Hirotsugu Ueshima 5 , Tetsuro Miki 6 , Fumihiko Matsuda 4 , Yoon Shin Cho 7 , Yeonjung Kim 8 , Bermseok Oh 9
Kyung-Won Hong 1 , Ji Eun Lim 2 , Jong Wook Kim 3 , Yasuharu Tabara 4 , Hirotsugu Ueshima 5 , Tetsuro Miki 6 , Fumihiko Matsuda 4 , Yoon Shin Cho 7 , Yeonjung Kim 8 , Bermseok Oh 9
+ et al

[No authors listed]

Author information
  • 1 Division of Epidemiology and Health Index, Center for Genome Science, Korea Centers for Disease Control and Prevention, Chungcheongbuk-do 363-951, Korea.
  • 2 Department of Biomedical Engineering, School of Medicine, Kyung Hee University, Seoul 130-701, Korea.
  • 3 Department of Internal Medicine, Inje University Ilsan Paik Hospital, Gyeonggi-do 411-706, Korea.
  • 4 Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan.
  • 5 Center for Epidemiologic Research in Asia and, Department of Health Science, Shiga University of Medical Science, Otsu 520-2121, Japan.
  • 6 Department of Geriatric Medicine, Ehime University Graduate School of Medicine, Toon 791-0295, Japan and.
  • 7 Department of Biomedical Science, Hallym University, Chuncheon, Gangwon-do 200-702, Korea.
  • 8 Division of Epidemiology and Health Index, Center for Genome Science, Korea Centers for Disease Control and Prevention, Chungcheongbuk-do 363-951, Korea, ohbs@khu.ac.kr yeonmaru@gmail.com.
  • 9 Department of Biomedical Engineering, School of Medicine, Kyung Hee University, Seoul 130-701, Korea, ohbs@khu.ac.kr yeonmaru@gmail.com.

摘要


The electrocardiogram has several advantages in detecting cardiac arrhythmia-it is readily available, noninvasive and cost-efficient. Recent genome-wide association studies have identified single-nucleotide polymorphisms that are associated with electrocardiogram measures. We performed a genome-wide association study using Korea Association Resource data for the discovery phase (Phase 1, n = 6805) and two consecutive replication studies in Japanese populations (Phase 2, n = 2285; Phase 3, n = 5010) for QRS duration and PR interval. Three novel loci were identified: rs2483280 (PRDM16 locus) and rs335206 (PRDM6 locus) were associated with QRS duration, and rs17026156 (SLC8A1 locus) correlated with PR interval. PRDM16 was recently identified as a causative gene of left ventricular non-compaction and dilated cardiomyopathy in 1p36 deletion syndrome, which is characterized by heart failure, arrhythmia and sudden cardiac death. Thus, our finding that a PRDM16 SNP is linked to QRS duration strongly implicates PRDM16 in cardiac function. In addition, C allele of rs17026156 increases PR interval (beta ± SE, 2.39 ± 0.40 ms) and exists far more frequently in East Asians (0.46) than in Europeans and Africans (0.05 and 0.08, respectively).