Meta-analysis identifies six new susceptibility loci for atrial fibrillation
Open accessAbstract
Atrial fibrillation is a highly prevalent arrhythmia and a major risk factor for stroke, heart failure and death. We conducted a genome-wide association study (GWAS) in individuals of European ancestry, including 6,707 with and 52,426 without atrial fibrillation. Six new atrial fibrillation susceptibility loci were identified and replicated in an additional sample of individuals of European ancestry, including 5,381 subjects with and 10,030 subjects without atrial fibrillation (P < 5 × 10(-8)). Four of the loci identified in Europeans were further replicated in silico in a GWAS of Japanese individuals, including 843 individuals with and 3,350 individuals without atrial fibrillation. The identified loci implicate candidate genes that encode transcription factors related to cardiopulmonary development, cardiac-expressed ion channels and cell signaling molecules.
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The AF-GRS comprises 12 SNPs that had been previously shown to be associated with AF at genome-wide significance.
“The AF-GRS comprised 12 SNPs that had been previously shown to be associated with AF at genome-wide significance.”
From Twelve-single nucleotide polymorphism genetic risk score identifies individuals at increased risk for future atrial fibrillation and stroke (2014) · cites this paper as [23]
The 12 SNPs in the AF-GRS are all the SNPs that have been reported to be associated with AF at a genome-wide significance level (P<5×10−8).
“These are all the SNPs that have been reported to be associated with AF at a genome-wide significance level (P<5×10−8), including 4 SNPs at PITX2 locus.18-23”
From Twelve-single nucleotide polymorphism genetic risk score identifies individuals at increased risk for future atrial fibrillation and stroke (2014) · cites this paper as [23]
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“Increasing age (35) Hypertension (35) Diabetes mellitus (35) MI (35) VHD (35) HF (35, 36) Obesity (37-39) Obstructive sleep apnea (39) Cardiothoracic surgery (40) Smoking (41) Exercise (42-44) Alcohol use (45-47) Hyperthyroidism (48-50) Increased pulse pressure (51) European ancestry (52) Family history (53) Genetic v…”
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“For instance, the polymorphism rs6817105, which is located about 167,000 nt upstream of PITX2, was found to be associated with atrial fibrillation.(78) More recently, a de novo nucleotide substitution in the promoter region of PITX2 (319 nucleotides upstream of the transcription start site)was identified inan individu…”
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InfluentialSelf-citationGenetics of Atrial Fibrillation in 2020
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Self-citationSinner, M. F., Tucker, N. R., Lunetta, K. L., Ozaki, K., Smith, J. G., Trompet, S., Bis, J. C., Lin, H., Chung, M. K., Nielsen, J. B., et al. (2014) · Circulation · doi:10.1161/circulationaha.114.009892 · Cited by 205 · see citing works
“Potential novel AF susceptibility signals in Europeans and Japanese were selected from a discovery sample consisting of cohorts with incident and prevalent AF, which has been previously described.(4) To replicate variants from the discovery sample, we recruited additional samples and cohorts with available DNA for dir…”
BackgroundMethodInfluentialSelf-citationSkibsbye, L., Poulet, C. E., Diness, J. G., Bentzen, B. H., Yuan, L., Kappert, U., Matschke, K., Wettwer, E., Ravens, U., Grunnet, M., et al. (2014) · Cardiovascular Research · doi:10.1093/cvr/cvu121 · Cited by 198 · see citing works
Khor, C. C., Do, T., Jia, H., Nakano, M., George, R. J., Abu‐Amero, K. K., Duvesh, R., Chen, L. J., Li, Z., Nongpiur, M. E., et al. (2016) · Nature Genetics · doi:10.1038/ng.3540 · Cited by 188 · see citing works
Self-citationLow, S., Takahashi, A., Ebana, Y., Ozaki, K., Christophersen, I. E., Ellinor, P. T., Ogishima, S., Yamamoto, M. P., Satoh, M., Sasaki, M., et al. (2017) · Nature Genetics · doi:10.1038/ng.3842 · Cited by 166 · see citing works
Self-citationRamírez, C. M., Zhang, X., Bandyopadhyay, C., Rotllán, N., Sugiyama, M. G., Aryal, B., Liu, X., He, S., Kraehling, J. R., Ulrich, V., et al. (2019) · Circulation · doi:10.1161/circulationaha.118.038571 · Cited by 166 · see citing works
Self-citationEpidemiology of Arrhythmias and Sudden Cardiac Death in Asia
Murakoshi, N., & Aonuma, K. (2013) · Circulation Journal · doi:10.1253/circj.cj-13-1129 · Cited by 165 · see citing works
Martin, R. I. R., Pogoryelova, O., Koref, M. S., Bourke, J. P., Teare, M. D., & Keavney, B. D. (2014) · Heart · doi:10.1136/heartjnl-2014-305482 · Cited by 161 · see citing works
Atrial Fibrillation Is an Independent Predictor of Mortality in Critically Ill Patients*
Shaver, C. M., Chen, W., Janz, D. R., May, A. K., Darbar, D., Bernard, G. R., Bastarache, J. A., & Ware, L. B. (2015) · Critical Care Medicine · doi:10.1097/ccm.0000000000001166 · Cited by 160 · see citing works
“Myocardial infarction/angina 29 (24) 22 (20) 0.”
Self-citationLow-frequency and common genetic variation in ischemic stroke
Malik, R., Traylor, M., Pulit, S. L., Bevan, S., Hopewell, J. C., Holliday, E. G., Zhao, W., Abrantes, P., Amouyel, P., Attia, J., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000002528 · Cited by 155 · see citing works
Self-citationPitx2 modulates a Tbx5 -dependent gene regulatory network to maintain atrial rhythm
Nadadur, R. D., Broman, M., Boukens, B. J., Mazurek, S. R., Yang, X. H., van den Boogaard, M., Bekeny, J. C., Gadek, M., Ward, T. L., Zhang, M., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aaf4891 · Cited by 151 · see citing works
Novel genetic markers associate with atrial fibrillation risk in Europeans and Japanese
Lubitz, S. A., Lunetta, K. L., Lin, H., Arking, D. E., Trompet, S., Li, G., Krijthe, B. P., Chasman, D. I., Barnard, J., Kleber, M. E., et al. (2014) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2013.12.015 · Cited by 148 · see citing works
“Second, as an alternative method of discovery, we employed an approximate conditional analysis to estimate nonredundant signals directly from the summary statistics of a prior genome-wide meta-analysis (12) using the GCTA software package (22).”
BackgroundMethodResultInfluentialSelf-citationDawson, K., Aflaki, M., & Nattel, S. (2012) · The Journal of Physiology · doi:10.1113/jphysiol.2012.235382 · Cited by 147 · see citing works
Epidemiology of Atrial Fibrillation
Zhang, J., Johnsen, S. P., Guo, Y., & Lip, G. Y. H. (2021) · Cardiac Electrophysiology Clinics · doi:10.1016/j.ccep.2020.10.010 · Cited by 144 · see citing works
Fabritz, L., Guasch, E., Antoniades, C. A., Bardinet, I., Benninger, G., Betts, T. R., Brand, E., BREITHARDT, G. E., Suchánková, G., Camm, A. J., et al. (2015) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2015.194 · Cited by 142 · see citing works
Self-citationKirchhof, P., Breithardt, G., Aliot, E., Al Khatib, S., Apostolakis, S., Auricchio, A., Bailleul, C., Bax, J., Benninger, G., Blomstrom-Lundqvist, C., et al. (2013) · Europace · doi:10.1093/europace/eut232 · Cited by 141 · see citing works
Novel genetic markers improve measures of atrial fibrillation risk prediction
Everett, B. M., Cook, N. R., Conen, D., Chasman, D. I., Ridker, P. M., & Albert, C. M. (2013) · European Heart Journal · doi:10.1093/eurheartj/eht033 · Cited by 141 · see citing works
“Third, we did not collect information on the family history of AF at baseline and thus were unable to compare the predictive value of this information to that provided by the GRS. 17 Fourth, as mentioned above, although we were able to test numerous blood biomarkers for inclusion in our model, we were not able to test…”
Self-citationChiang, C., Wu, T.-J., Ueng, K.-C., Chao, T., Chang, K., Wang, C.-C., Lin, Y., Yin, W., Kuo, J., Lin, W., et al. (2016) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2016.10.005 · Cited by 138 · see citing works
Self-citationEmerging Directions in the Genetics of Atrial Fibrillation
Tucker, N. R., & Ellinor, P. T. (2014) · Circulation Research · doi:10.1161/circresaha.114.302225 · Cited by 130 · see citing works
Self-citationPatton, K. K., Heckbert, S. R., Alonso, Á., Bahrami, H., Lima, J. A. C., Burke, G. L., & Kronmal, R. A. (2013) · Heart · doi:10.1136/heartjnl-2013-304724 · Cited by 126 · see citing works
Self-citationRed blood cell distribution width is associated with incidence of atrial fibrillation
Eryd, S. A., Borné, Y., Melander, O., Persson, M., Smith, J. G., Hedblad, B., & Engström, G. (2013) · Journal of Internal Medicine · doi:10.1111/joim.12143 · Cited by 121 · see citing works
Self-citationTao, Y., Zhang, M., Li, L.-L., Bai, Y., Zhou, Y.-F., Moon, A., Kaminski, H., & Martin, J. F. (2014) · Circulation: Cardiovascular Genetics · doi:10.1161/circgenetics.113.000259 · Cited by 124 · see citing works
Genetic Risk Prediction of Atrial Fibrillation
Lubitz, S. A., Yin, X., Lin, H. J., Kolek, M. J., Smith, J. G., Trompet, S., Rienstra, M., Rost, N. S., Teixeira, P. L., Almgren, P., et al. (2016) · Circulation · doi:10.1161/circulationaha.116.024143 · Cited by 112 · see citing works
Self-citationNielsen, J. B., Fritsche, L. G., Zhou, W., Teslovich, T. M., Holmen, O. L., Gustafsson, S., Gabrielsen, M. E., Schmidt, E. M., Beaumont, R. N., Wolford, B. N., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.12.003 · Cited by 111 · see citing works
“At the two AF loci previously annotated as SYNPO2L and NEURL (MIM: 603804), both located on chromosome 10, we identified missense variants situated in the genes previously highlighted as putative functional genes for AF (SYNPO2L and NEURL).(11,12) We identified three AF-associated missense SYNPO2L variants (rs34163229…”
BackgroundSelf-citationAtrial fibrillation: the role of common and rare genetic variants
Olesen, M. S., Nielsen, M. W., Haunsø, S., & Svendsen, J. H. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.139 · Cited by 112 · see citing works
Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease
Kathiriya, I. S., Rao, K. S., Iacono, G., Devine, W. P., Blair, A. P., Hota, S. K., Lai, M. H., Garay, B. I., Thomas, R., Gong, H. Z., et al. (2021) · Developmental Cell · doi:10.1016/j.devcel.2020.11.020 · Cited by 116 · see citing works
“In addition, an enrichment of chromatin occupancy of TBX5 and cardiac transcription factors is observed near genes associated with EP-GWAS (Table S5) (Pfeufer et al., 2010; Smith et al., 2011; Ellinor et al., 2012; Cordell et al., 2013a; 2013b; Hoed et al., 2013; Hu et al., 2013).”
BackgroundInfluentialAtrial fibrillation from the pathologist’s perspective
Corradi, D. (2013) · Cardiovascular Pathology · doi:10.1016/j.carpath.2013.12.001 · Cited by 113 · see citing works
Tada, H., Shiffman, D., Smith, J. G., Sjögren, M., Lubitz, S. A., Ellinor, P. T., Louie, J. Z., Catanese, J. J., Engström, G., Devlin, J. J., et al. (2014) · Stroke · doi:10.1161/strokeaha.114.006072 · Cited by 110 · see citing works
Self-citationHeritability of Atrial Fibrillation
Weng, L.-C. C., Choi, S. H., Klarin, D. M., Smith, J. G., Loh, P., Chaffin, M. D., Roselli, C., Hulme, O. L., Lunetta, K. L., Dupuis, J., et al. (2017) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.117.001838 · Cited by 112 · see citing works
Self-citationVerkerk, A. O., & Wilders, R. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms16023071 · Cited by 107 · see citing works
“It is, therefore, not surprising that the HCN4 locus has been identified as a modulator of heart rate in a genome-wide association study (GWAS) [12] and that reduced HCN4 expression due to endurance exercise is associated with a lower resting heart rate [13].”
BackgroundThe small-molecule BGP-15 protects against heart failure and atrial fibrillation in mice
Sapra, G., Tham, Y. K., Cemerlang, N., Matsumoto, A., Kiriazis, H., Bernardo, B. C., Henstridge, D. C., Ooi, J. Y. Y., Pretorius, L., Boey, E. J. H., et al. (2014) · Nature Communications · doi:10.1038/ncomms6705 · Cited by 107 · see citing works
PITX2 Modulates Atrial Membrane Potential and the Antiarrhythmic Effects of Sodium-Channel Blockers
Syeda, F., Holmes, A. P., Yu, T. Y., Tull, S. P., Kuhlmann, S., Pavlović, D., Betney, D., Riley, G., Kučera, J., Jousset, F., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.07.766 · Cited by 107 · see citing works
Duhme, N., Schweizer, P. A., Thomas, D., Becker, R., Schröter, J., Barends, T. R. M., Schlichting, I., Draguhn, A., Bruehl, C., Katus, H. A., et al. (2012) · European Heart Journal · doi:10.1093/eurheartj/ehs391 · Cited by 104 · see citing works
“–8 Moreover, recent studies suggested a contribution of HCN4 dysfunction to atrial and ventricular arrhythmogenesis.(6,8,25,26) Interestingly, in a canine model, atrial tachypacing leads to significant down-regulation of If -current and caused SND, indicating an association between atrial tachyarrhythmia and SAN disea…”
BackgroundNielsen, J. C., Lin, Y., Figueiredo, M. J. D. O., Shamloo, A. S., Alfie, A., Bovéda, S., Dagres, N., Toro, D. D., Eckhardt, L. L., Ellenbogen, K. A., et al. (2020) · Journal of Arrhythmia · doi:10.1002/joa3.12338 · Cited by 102 · see citing works
Nielsen, J. C., Lin, Y.-J., de Oliveira Figueiredo, M. J., Sepehri Shamloo, A., Alfie, A., Boveda, S., Dagres, N., Di Toro, D., Eckhardt, L. L., Ellenbogen, K., et al. (2020) · EP Europace · doi:10.1093/europace/euaa065 · Cited by 98 · see citing works
Atrial fibrillation—a complex polygenetic disease
Andersen, J. H., Andreasen, L., & OLESEN, M. S. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-00784-8 · Cited by 97 · see citing works
“The structural proteins encoded by these genes are both expressed in skeletal and cardiac muscle, however it is unknown which of these genes are driving the association [24].”
BackgroundStroke Genetics: A Review and Update
Lindgren, A. G. (2014) · Journal of Stroke · doi:10.5853/jos.2014.16.3.114 · Cited by 92 · see citing works
Genome-wide compendium and functional assessment of in vivo heart enhancers
Dickel, D. E., Barozzi, I., Zhu, Y., Fukuda, Y., Osterwalder, M., Mannion, B. J., May, D., Spurrell, C. H., Plajzer-Frick, I., Pickle, C. S., et al. (2016) · Nature Communications · doi:10.1038/ncomms12923 · Cited by 94 · see citing works
Identification of atrial fibrillation associated genes and functional non-coding variants
van Ouwerkerk, A. F., Bosada, F. M., van Duijvenboden, K., Hill, M. C., Montefiori, L. E., Scholman, K. T., Liu, J., de Vries, A. A. F., Boukens, B. J., Ellinor, P. T., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12721-5 · Cited by 94 · see citing works
Self-citationPinho-Gomes, A. C., Reilly, S., Brandes, R. P., & Casadei, B. (2014) · Antioxidants & Redox Signaling · doi:10.1089/ars.2013.5542 · Cited by 94 · see citing works
Genetics of Atrial Fibrillation
Feghaly, J., Zakka, P., London, B., MacRae, C. A., & Refaat, M. M. (2018) · Journal of the American Heart Association · doi:10.1161/jaha.118.009884 · Cited by 94 · see citing works
“Ellinor et al conducted a meta-analysis of SNPs and their association with the development of AF.(105) Although”
MethodGenetics of atrial fibrillation: from families to genomes
Christophersen, I. E., & Ellinor, P. T. (2016) · Journal of Human Genetics · doi:10.1038/jhg.2015.44 · Cited by 92 · see citing works
Self-citationGenetic mechanisms of atrial fibrillation: impact on response to treatment
Darbar, D., & Roden, D. M. (2013) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2013.53 · Cited by 92 · see citing works
Self-citationvon der Heyde, B., Emmanouilidou, A., Mazzaferro, E., Vicenzi, S., Höijer, I., Klingström, T., Jumaa, S., Dethlefsen, O., Snieder, H., de Geus, E. J. C., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-68567-1 · Cited by 91 · see citing works
Parvez, B., Shoemaker, M. B., Muhammad, R., Richardson, R., Jiang, L., Blair, M. A., Roden, D. M., & Darbar, D. (2013) · Heart Rhythm · doi:10.1016/j.hrthm.2013.02.018 · Cited by 93 · see citing works
“Recent genome-wide association studies have identified numerous common polymorphisms associated with both lone and typical AF.8 The 3 loci most strongly associated with AF occur on chromosomes 4q25 (near PITX2),9 16q22 (in ZFHX3),10 and 1q21 (in KCNN3).11 These findings indicate that variable mechanisms contribute to…”
InfluentialSelf-citationKirchhof, P. F., Medicine, E. C. R. A. E. A. W. S. O. P., Sipido, K. R., Medicine, E. C. R. A. E. A. W. S. O. P., Cowie, M., Medicine, E. C. R. A. E. A. W. S. O. P., Eschenhagen, T., Medicine, E. C. R. A. E. A. W. S. O. P., Fox, K. A. A., Medicine, E. C. R. A. E. A. W. S. O. P., et al. (2014) · European Heart Journal · doi:10.1093/eurheartj/ehu312 · Cited by 91 · see citing works
van Setten, J., Brody, J. A., Jamshidi, Y., Swenson, B. R., Butler, A. M., Campbell, H., Fabiola Del Greco, M., Evans, D. S., Gibson, Q., Gudbjartsson, D. F., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04766-9 · Cited by 90 · see citing works
Self-citationMcManus, D. D., Lin, H., Tanrıverdi, K., Quercio, M., Yin, X., Larson, M. G., Ellinor, P. T., Levy, D. A., Freedman, J. E., & Benjamin, E. J. (2014) · Heart Rhythm · doi:10.1016/j.hrthm.2014.01.018 · Cited by 90 · see citing works
Self-citationZhang, X.-D., Timofeyev, V., Li, N., Myers, R. E., Zhang, D., Singapuri, A., Lau, V. C., Bond, C. T., Adelman, J. P., Lieu, D. K., et al. (2013) · Cardiovascular Research · doi:10.1093/cvr/cvt262 · Cited by 86 · see citing works
Atrial Fibrillation Mechanisms and Implications for Catheter Ablation
Cheniti, G., Vlachos, K. G., Pambrun, T., Hooks, D. A., Frontera, A., Takigawa, M., Bourier, F. J., Kitamura, Τ., Lam, A., Martin, C., et al. (2018) · Frontiers in Physiology · doi:10.3389/fphys.2018.01458 · Cited by 86 · see citing works
“The majority of mutations underlying AF affect genes that encode transcription factors related to cardiopulmonary development, cardiac-expressed ion channels and cell signaling molecules (Roberts and Gollob, 2010, 2014; Ellinor et al., 2012).”
BackgroundAtrial Fibrillation and Endothelial Dysfunction
Corban, M., Toya, T., Ahmad, A., Lerman, L. O., Lee, H.-C., & Lerman, A. (2021) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2020.11.005 · Cited by 85 · see citing works
Aberrant sodium influx causes cardiomyopathy and atrial fibrillation in mice
Wan, E. Y., Abrams, J., Weinberg, R. L., Katchman, A. N., Bayne, J., Zakharov, S. I., Yang, L., Morrow, J., Garan, H., & Marx, S. O. (2015) · Journal of Clinical Investigation · doi:10.1172/jci84669 · Cited by 84 · see citing works
“There is also an important component of genetic susceptibility, shown by recent genome-wide association studies and identification of relatively rare mutants in K + and Na + channels and ryanodine receptors (3–5).”
Pitx2 impairs calcium handling in a dose-dependent manner by modulating Wnt signalling
Lozano-Velasco, E., Hernández‐Torres, F., Daimi, H., Serra, S. A., Herraiz, A., Hove‐Madsen, L., Aránega, A. E., & Franco, D. (2015) · Cardiovascular Research · doi:10.1093/cvr/cvv207 · Cited by 82 · see citing works
A Missense Variant in PLEC Increases Risk of Atrial Fibrillation
Þórólfsdóttir, R. B., Sveinbjörnsson, G., Sulem, P., Helgadóttir, A., Grétarsdóttir, S., Benónísdóttir, S., Magnusdottir, A., Davidsson, O. B., Rajamani, S., Roden, D. M., et al. (2017) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2017.09.005 · Cited by 80 · see citing works
“Variant rs72700114 is located 400 kb from a previously reported AF locus, represented by rs651386, close to PRRX1 (Figure 1B) (9).”
InfluentialSelf-citationEpigenetic and Transcriptional Networks Underlying Atrial Fibrillation
van Ouwerkerk, A. F., Hall, A. W., Kadow, Z. A., Lazarevic, S., Reyat, J. S., Tucker, N. R., Nadadur, R. D., Bosada, F. M., Bianchi, V., Ellinor, P. T., et al. (2020) · Circulation Research · doi:10.1161/circresaha.120.316574 · Cited by 78 · see citing works
Self-citationGenetics of Atrial Fibrillation: State of the Art in 2017
Fatkin, D., Santiago, C. F., Huttner, I. G., Lubitz, S. A., & Ellinor, P. T. (2017) · Heart Lung and Circulation · doi:10.1016/j.hlc.2017.04.008 · Cited by 76 · see citing works
Self-citationDiness, J. G., Skibsbye, L., Simó‐Vicens, R., Santos, J. L., Lundegaard, P. R., Citerni, C., Sauter, D. R. P., Bomholtz, S. H., Svendsen, J. H., Olesen, S., et al. (2017) · Circulation Arrhythmia and Electrophysiology · doi:10.1161/circep.117.005125 · Cited by 74 · see citing works
A Functional Variant Associated with Atrial Fibrillation Regulates PITX2c Expression through TFAP2a
Ye, J., Tucker, N. R., Weng, L.-C. C., Clauß, S., Lubitz, S. A., & Ellinor, P. T. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.10.001 · Cited by 75 · see citing works
“To date, at least four independent AF-associated regions at the 4q25 locus are adjacent to the transcription-factorencoding gene PITX2 (MIM: 601542).8,9 Three isoforms of PITX2 (PITX2a, PITX2b, and PITX2c) have been identified in mammals,11 and PITX2c is the dominant isoform in the developing and adult left atrium.12…”
BackgroundInfluentialSelf-citationLee, J.-Y., Kim, T., Yang, P., Lim, H. E., Choi, E., Shim, J., Shin, E., Uhm, J., Kim, J. S., Joung, B., et al. (2017) · European Heart Journal · doi:10.1093/eurheartj/ehx213 · Cited by 75 · see citing works
“Although several studies have replicated these identified loci in Asian populations, some studies showed weak or no association with AF due to different allele frequencies and linkage disequilibrium (LD) patterns compared with European ancestry.(10,15,16) The purposes of this study were to: (1) examine previously iden…”
ResultAtrial fibrillation: pathophysiology, genetic and epigenetic mechanisms
Vinciguerra, M., Dobrev, D., & Nattel, S. (2024) · The Lancet Regional Health - Europe · doi:10.1016/j.lanepe.2023.100785 · Cited by 73 · see citing works
A novel trafficking-defective HCN4 mutation is associated with early-onset atrial fibrillation
Macri, V., Mahida, S., Zhang, M. L., Sinner, M. F., Dolmatova, E. V., Tucker, N. R., McLellan, M. A., Shea, M. A., Milan, D. J., Lunetta, K. L., et al. (2014) · Heart Rhythm · doi:10.1016/j.hrthm.2014.03.002 · Cited by 73 · see citing works
Self-citationBiological significance of miR-126 expression in atrial fibrillation and heart failure
Wei, X. J., Han, M., Yang, F. Y., Wei, G., Liang, Z. G., Yao, H., Ji, C., Xie, R. S., Gong, C., & Tian, Y. (2015) · Brazilian Journal of Medical and Biological Research · doi:10.1590/1414-431x20154590 · Cited by 72 · see citing works
“In addition, abundant epidemiological data have indicated endogenous causes in the development of AF/HF, indicating that genetics may contribute to the onset of these diseases (9,10).”
BackgroundPITX2‐dependent gene regulation in atrial fibrillation and rhythm control
Syeda, F., Kirchhof, P. F., & Fabritz, L. (2017) · The Journal of Physiology · doi:10.1113/jp273123 · Cited by 72 · see citing works
Liang, B., Soka, M. J., Christensen, A. H., OLESEN, M. S., Larsen, A. P., Knop, F. K., Wang, F., Nielsen, J. B., Andersen, M. N., Humphreys, D. T., et al. (2014) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2013.12.014 · Cited by 71 · see citing works
Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases
Wang, Y., & Wang, J. (2018) · Pulse · doi:10.1159/000496150 · Cited by 71 · see citing works
Aging and cardiovascular diseases: the role of gene-diet interactions
Corella, D., & Ordovás, J. M. (2014) · Ageing Research Reviews · doi:10.1016/j.arr.2014.08.002 · Cited by 83 · see citing works
Long-range Pitx2c enhancer–promoter interactions prevent predisposition to atrial fibrillation
Zhang, M., Hill, M. C., Kadow, Z. A., Suh, J. H., Tucker, N. R., Hall, A. W., Tran, T. T., Swinton, P. S., Leach, J. P., Margulies, K. B., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1907418116 · Cited by 70 · see citing works
Self-citation
- Authors
- Ellinor, P. T., Lunetta, K. L., Albert, C. M., Glazer, N. L., Ritchie, M. D., Smith, A. V., Arking, D. E., Müller-Nurasyid, M., Krijthe, B. P., Lubitz, S. A., Bis, J. C., Chung, M. K., Dörr, M., Ozaki, K., Roberts, J. D., Smith, J. G., Pfeufer, A., Sinner, M. F., Lohman, K., Ding, J., Smith, N. L., Smith, J. D., Rienstra, M., Rice, K. M., Van Wagoner, D. R., Magnani, J. W., Wakili, R., Clauss, S., Rotter, J. I., Steinbeck, G., Launer, L. J., Davies, R. W., Borkovich, M., Harris, T. B., Lin, H., Völker, U., Völzke, H., Milan, D. J., Hofman, A., Boerwinkle, E., Chen, L. Y., Soliman, E. Z., Voight, B. F., Li, G., Chakravarti, A., Kubo, M., Tedrow, U. B., Rose, L. M., Ridker, P. M., Conen, D., Tsunoda, T., Furukawa, T., Sotoodehnia, N., Xu, S., Kamatani, N., Levy, D., Nakamura, Y., Parvez, B., Mahida, S., Furie, K. L., Rosand, J., Muhammad, R., Psaty, B. M., Meitinger, T., Perz, S., Wichmann, H.-E., Witteman, J. C. M., Kao, W. H. L., Kathiresan, S., Roden, D. M., Uitterlinden, A. G., Rivadeneira, F., McKnight, B., Sjögren, M., Newman, A. B., Liu, Y., Gollob, M. H., Melander, O., Tanaka, T., Stricker, B. H. C., Felix, S. B., Alonso, A., Darbar, D., Barnard, J., Chasman, D. I., Heckbert, S. R., Benjamin, E. J., Gudnason, V., & Kääb, S.
- Affiliations
- Massachusetts General Hospital (US)
- Boston University (US)
- Brigham and Women's Hospital (US)
- University of Washington (US)
- Pennsylvania State University (US)
- University of Iceland (IS)
- Johns Hopkins University (US)
- Erasmus MC (NL)
- Cleveland Clinic (US)
- Universität Greifswald (DE)
- RIKEN (JP)
- Ottawa Heart Institute (CA)
- Broad Institute (US)
- TUM Klinikum (DE)
- Wake Forest University Health Sciences (US)
- Group Health Cooperative (US)
- University Medical Center Groningen (NL)
- Ludwig-Maximilians-Universität München (DE)
- Cedars-Sinai Medical Center (US)
- National Institutes of Health (US)
- The University of Texas Health Science Center at Houston (US)
- University of Minnesota (US)
- University Hospital of Basel (CH)
- Tokyo Medical and Dental University (JP)
- Institute of Medical Science, The University of Tokyo (JP)
- Vanderbilt University (US)
- Harvard University (US)
- Helmholtz Munich (DE)
- München Klinik (DE)
- Lund University (SE)
- University of Pittsburgh (US)
- Corresponding author
- Ellinor, Patrick T
- Kääb, Stefan
- ORCID
- Ellinor, Patrick T
- Lunetta, Kathryn L
- Albert, Christine M
- Glazer, Nicole L
- Ritchie, Marylyn D
- Smith, Albert V
- Arking, Dan E
- Lubitz, Steven A
- Bis, Joshua C
- Chung, Mina K
- Dörr, Marcus
- Ozaki, Kouichi
- Roberts, Jason D
- Sinner, Moritz F
- Ding, Jingzhong
- Smith, Nicholas L
- Smith, Jonathan D
- Rienstra, Michiel
- Rice, Kenneth M
- Magnani, Jared W
- Wakili, Reza
- Clauss, Sebastian
- Rotter, Jerome I
- Steinbeck, Gerhard
- Launer, Lenore J
- Harris, Tamara B
- Lin, Honghuang
- Völker, Uwe
- Völzke, Henry
- Milan, David J
- Boerwinkle, Eric
- Chen, Lin Y
- Soliman, Elsayed Z
- Voight, Benjamin F
- Chakravarti, Aravinda
- Kubo, Michiaki
- Tedrow, Usha B
- Rose, Lynda M
- Ridker, Paul M
- Conen, David
- Tsunoda, Tatsuhiko
- Furukawa, Tetsushi
- Kamatani, Naoyuki
- Levy, Daniel
- Nakamura, Yusuke
- Mahida, Saagar
- Furie, Karen L
- Rosand, Jonathan
- Psaty, Bruce M
- Meitinger, Thomas
- Wichmann, H-Erich
- Kao, W H Linda
- Kathiresan, Sekar
- Roden, Dan M
- Rivadeneira, Fernando
- Newman, Anne B
- Liu, Yongmei
- Gollob, Michael H
- Melander, Olle
- Tanaka, Toshihiro
- Stricker, Bruno H Ch
- Felix, Stephan B
- Darbar, Dawood
- Barnard, John
- Chasman, Daniel I
- Heckbert, Susan R
- Benjamin, Emelia J
- Gudnason, Vilmundur
- Kääb, Stefan
- Venue
- Nature Genetics
- Published
- 2012-04-29
- Volume
- 44
- Issue
- 6
- Pages
- 670-675
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3366038
- OpenAlex
- W2149665587
- Cited by
- 601
- References
- 32
- Citations by year
- 2026: 17 · 2025: 20 · 2024: 28 · 2023: 25 · 2022: 19 · 2021: 33 · 2020: 53 · 2019: 35 · 2018: 41 · 2017: 64 · 2016: 62 · 2015: 56 · 2014: 61 · 2013: 64 · 2012: 22
- FWCI
- 41.26
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Site cant be reached (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Funders
- National Institutes of Health (UL1TR000124)
- Japan Society for the Promotion of Science (23390205, 23659413)
- National Heart, Lung, and Blood Institute (U19HL065962, L30 HL097675, R01HL104156, R01HL092217, R01HL105756, R01HL090620, K24HL105780, R21HL106092)
- National Institute on Drug Abuse (R21DA027021)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Atrial Fibrillation Management and Outcomes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- atrial fibrillation, genetic susceptibility loci, genome-wide association study, European ancestry, transcription factors, cardiac ion channels, signaling molecules, cardiac arrhythmias
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Atrial Fibrillation, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Risk Factors, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, White People, Asian People, Genome-Wide Association Study, Young Adult, Genetic Loci
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