Identification of six new genetic loci associated with atrial fibrillation in the Japanese population

Nature Genetics

Volumn 49, Issue 6, 2017, Pages 953-958

  Low, Siew Kee ^a,b   Takahashi, Atsushi ^a,c   Ebana, Yusuke ^d   Ozaki, Kouichi ^a,e   Christophersen, Ingrid E ^f,g,h   Ellinor, Patrick T ^f   Ogishima, Soichi ⁱ   Yamamoto, Masayuki ⁱ   Satoh, Mamoru ^j   Sasaki, Makoto ^j   Yamaji, Taiki ^k   Iwasaki, Motoki ^k   Tsugane, Shoichiro ^k   Tanaka, Keitaro ^l   Naito, Mariko ^m   Wakai, Kenji ^m   Tanaka, Hideo ^m,n   Furukawa, Tetsushi ^d   Kubo, Michiaki ^a   Ito, Kaoru ^a   Kamatani, Yoichiro ^a   Tanaka, Toshihiro ^a,d   more..

^a Institute of Physical and Chemical Research   (Japan)

^b UNIVERSITY OF SYDNEY   (Australia)

^c NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^d TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^e NATIONAL CENTER FOR GERIATRICS AND GERONTOLOGY   (Japan)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

^h VESTRE VIKEN HOSPITAL TRUST   (Norway)

ⁱ TOHOKU UNIVERSITY   (Japan)

^j IWATE MEDICAL UNIVERSITY   (Japan)

^k NATIONAL CANCER CENTER   (Japan)

^l SAGA UNIVERSITY   (Japan)

^m NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

ⁿ AICHI CANCER CENTER HOSPITAL   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ANCESTRY GROUP; ARTICLE; ATRIAL FIBRILLATION; AXON GUIDANCE; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENOME-WIDE ASSOCIATION STUDY; HAND2 GENE; HEREDITY; HUMAN; JAPANESE (PEOPLE); KCND3 GENE; MAJOR CLINICAL STUDY; MALE; NEBL GENE; PATHOGENESIS; PPFIA4 GENE; PRIORITY JOURNAL; SH3PXD2A GENE; SLC1A4 CEP68 GENE; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOME 4; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; HAND2 PROTEIN, HUMAN; KCND3 PROTEIN, HUMAN; SHAL POTASSIUM CHANNEL;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; ATRIAL FIBRILLATION; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHROMOSOMES, HUMAN, PAIR 4; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SHAL POTASSIUM CHANNELS;

EID: 85017499300     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3842     Document Type: Article

References (33)

1. Inoue, H. et al. Prevalence of atrial fibrillation in the general population of Japan: an analysis based on periodic health examination. Int. J. Cardiol. 137, 102-107 (2009).
2. Fox, C.S. et al. Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring. J. Am. Med. Assoc. 291, 2851-2855 (2004).
3. Gudbjartsson, D.F. et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 448, 353-357 (2007).
4. Benjamin, E.J. et al. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat. Genet. 41, 879-881 (2009).
5. Ellinor, P.T. et al. Common variants in KCNN3 are associated with lone atrial fibrillation. Nat. Genet. 42, 240-244 (2010).
6. Ellinor, P.T. et al. Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat. Genet. 44, 670-675 (2012).
7. Sinner, M.F. et al. Integrating genetic, transcriptional, and functional analyses to identify 5 novel genes for atrial fibrillation. Circulation 130, 1225-1235 (2014).
8. Dewland, T.A., Olgin, J.E., Vittinghoff, E. & Marcus, G.M. Incident atrial fibrillation among Asians, Hispanics, blacks, and whites. Circulation 128, 2470-2477 (2013).
9. Pe'er, I., Yelensky, R., Altshuler, D. & Daly, M.J. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet. Epidemiol. 32, 381-385 (2008).
10. So, H.C., Gui, A.H., Cherny, S.S. & Sham, P.C. Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases. Genet. Epidemiol. 35, 310-317 (2011).
11. JCS Joint Working Group. Guidelines for pharmacotherapy of atrial fibrillation (JCS 2013). Circ. J. 78, 1997-2021 (2014).
12. Zollner, S. & Pritchard, J.K. Overcoming the winner's curse: estimating penetrance parameters from case-control data. Am. J. Hum. Genet. 80, 605-615 (2007).
13. McFadden, D.G. et al. A GATA-dependent right ventricular enhancer controls dHAND transcription in the developing heart. Development 127, 5331-5341 (2000).
14. Morikawa, Y. & Cserjesi, P. Cardiac neural crest expression of Hand2 regulates outflow and second heart field development. Circ. Res. 103, 1422-1429 (2008).
15. Dunah, A.W. et al. LAR receptor protein tyrosine phosphatases in the development and maintenance of excitatory synapses. Nat. Neurosci. 8, 458-467 (2005).
16. Santiago-Medina, M., Gregus, K.A., Nichol, R.H., O'Toole, S.M. & Gomez, T.M. Regulation of ECM degradation and axon guidance by growth cone invadosomes. Development 142, 486-496 (2015).
17. Kirby, M.L. & Stewart, D.E. Neural crest origin of cardiac ganglion cells in the chick embryo: identification and extirpation. Dev. Biol. 97, 433-443 (1983).
18. Duarri, A. et al. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann. Neurol. 72, 870-880 (2012).
19. Duarri, A. et al. Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. Cell. Mol. Life Sci. 72, 3387-3399 (2015).
20. Duarri, A. et al. The L450F mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together. Neurogenetics 14, 257-258 (2013).
21. Lee, Y.C. et al. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann. Neurol. 72, 859-869 (2012).
22. Smets, K. et al. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy. BMC Med. Genet. 16, 51 (2015).
23. Olesen, M.S. et al. A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation. Cardiovasc. Res. 98, 488-495 (2013).
24. Bang, M.L. & Chen, J. Roles of nebulin family members in the heart. Circ. J. 79, 2081-2087 (2015).
25. Eulitz, S. et al. Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling. Mol. Biol. Cell 24, 3215-3226 (2013).
26. Moncman, C.L. & Wang, K. Targeted disruption of nebulette protein expression alters cardiac myofibril assembly and function. Exp. Cell Res. 273, 204-218 (2002).
27. Maiellaro-Rafferty, K. et al. Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy. J. Mol. Cell. Cardiol. 60, 151-160 (2013).
28. Purevjav, E. et al. Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. J. Am. Coll. Cardiol. 56, 1493-1502 (2010).
29. Lubitz, S.A. et al. Independent susceptibility markers for atrial fibrillation on chromosome 4q25. Circulation 122, 976-984 (2010).
30. Kuriyama, S. et al. The Tohoku Medical Megabank Project: design and mission. J. Epidemiol. 26, 493-511 (2016).
31. Freedman, M.L. et al. Assessing the impact of population stratification on genetic association studies. Nat. Genet. 36, 388-393 (2004).
32. Yang, J. et al. Genomic inflation factors under polygenic inheritance. Eur. J. Hum. Genet. 19, 807-812 (2011).
33. Segre, A.V., Groop, L., Mootha, V.K., Daly, M.J. & Altshuler, D. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet. 6, e1001058 (2010).