Literature DB >> 29892015

Multi-ethnic genome-wide association study for atrial fibrillation.

Carolina Roselli1, Mark D Chaffin1, Lu-Chen Weng1,2, Stefanie Aeschbacher3,4, Gustav Ahlberg5,6,7, Christine M Albert8, Peter Almgren9, Alvaro Alonso10, Christopher D Anderson1,11, Krishna G Aragam1,11, Dan E Arking12, John Barnard13, Traci M Bartz14, Emelia J Benjamin15,16,17, Nathan A Bihlmeyer18, Joshua C Bis19, Heather L Bloom20, Eric Boerwinkle21, Erwin B Bottinger22,23, Jennifer A Brody19, Hugh Calkins24, Archie Campbell25, Thomas P Cappola26, John Carlquist27,28, Daniel I Chasman1,29, Lin Y Chen30, Yii-Der Ida Chen31, Eue-Keun Choi32, Seung Hoan Choi1, Ingrid E Christophersen1,2,33, Mina K Chung13, John W Cole34,35, David Conen3,4,36, James Cook37, Harry J Crijns38, Michael J Cutler27, Scott M Damrauer39,40, Brian R Daniels1, Dawood Darbar41, Graciela Delgado42, Joshua C Denny43, Martin Dichgans44,45,46, Marcus Dörr47,48, Elton A Dudink38, Samuel C Dudley49, Nada Esa50, Tonu Esko1,51, Markku Eskola52, Diane Fatkin53,54,55, Stephan B Felix47,48, Ian Ford56, Oscar H Franco57, Bastiaan Geelhoed58, Raji P Grewal59,60, Vilmundur Gudnason61,62, Xiuqing Guo31, Namrata Gupta1, Stefan Gustafsson63, Rebecca Gutmann64, Anders Hamsten65, Tamara B Harris66, Caroline Hayward67, Susan R Heckbert68,69, Jussi Hernesniemi52,70, Lynne J Hocking71, Albert Hofman57, Andrea R V R Horimoto72, Jie Huang73, Paul L Huang2, Jennifer Huffman67, Erik Ingelsson63,74, Esra Gucuk Ipek24, Kaoru Ito75, Jordi Jimenez-Conde76,77, Renee Johnson53, J Wouter Jukema78,79,80, Stefan Kääb81,82, Mika Kähönen83, Yoichiro Kamatani84, John P Kane85, Adnan Kastrati82,86, Sekar Kathiresan1,11, Petra Katschnig-Winter87, Maryam Kavousi57, Thorsten Kessler86, Bas L Kietselaer38, Paulus Kirchhof88,89,90, Marcus E Kleber42, Stacey Knight27,91, Jose E Krieger72, Michiaki Kubo92, Lenore J Launer66, Jari Laurikka93, Terho Lehtimäki70, Kirsten Leineweber94, Rozenn N Lemaitre19, Man Li95,96, Hong Euy Lim97, Henry J Lin31, Honghuang Lin15,16, Lars Lind98, Cecilia M Lindgren99, Marja-Liisa Lokki100, Barry London64, Ruth J F Loos22,101,102, Siew-Kee Low84, Yingchang Lu22,101, Leo-Pekka Lyytikäinen70, Peter W Macfarlane103, Patrik K Magnusson104, Anubha Mahajan99, Rainer Malik44, Alfredo J Mansur105, Gregory M Marcus106, Lauren Margolin1, Kenneth B Margulies26, Winfried März107,108, David D McManus50, Olle Melander109, Sanghamitra Mohanty110,111, Jay A Montgomery43, Michael P Morley26, Andrew P Morris37, Martina Müller-Nurasyid81,82,112, Andrea Natale110,111, Saman Nazarian113, Benjamin Neumann81, Christopher Newton-Cheh1,11, Maartje N Niemeijer57, Kjell Nikus52, Peter Nilsson114, Raymond Noordam115, Heidi Oellers116, Morten S Olesen5,6,7, Marju Orho-Melander9, Sandosh Padmanabhan117, Hui-Nam Pak118, Guillaume Paré36,119, Nancy L Pedersen104, Joanna Pera120, Alexandre Pereira121,122, David Porteous25, Bruce M Psaty69,123, Sara L Pulit1,124,125, Clive R Pullinger85, Daniel J Rader126, Lena Refsgaard5,6,7, Marta Ribasés127,128,129, Paul M Ridker8, Michiel Rienstra58, Lorenz Risch130,131, Dan M Roden43, Jonathan Rosand1,11, Michael A Rosenberg11,132, Natalia Rost1,133, Jerome I Rotter134, Samir Saba135, Roopinder K Sandhu136, Renate B Schnabel137,138, Katharina Schramm81,112, Heribert Schunkert82,86, Claudia Schurman22,101, Stuart A Scott139, Ilkka Seppälä70, Christian Shaffer43, Svati Shah140, Alaa A Shalaby135,141, Jaemin Shim142, M Benjamin Shoemaker43, Joylene E Siland58, Juha Sinisalo143, Moritz F Sinner81,82, Agnieszka Slowik120, Albert V Smith61,62, Blair H Smith144, J Gustav Smith1,145, Jonathan D Smith13, Nicholas L Smith68,69, Elsayed Z Soliman146, Nona Sotoodehnia147, Bruno H Stricker148,149, Albert Sun140, Han Sun13, Jesper H Svendsen5,7, Toshihiro Tanaka150, Kahraman Tanriverdi50, Kent D Taylor31, Maris Teder-Laving51, Alexander Teumer48,151, Sébastien Thériault36,119, Stella Trompet78,115, Nathan R Tucker1,2, Arnljot Tveit33,152, Andre G Uitterlinden148, Pim Van Der Harst58, Isabelle C Van Gelder58, David R Van Wagoner13, Niek Verweij58, Efthymia Vlachopoulou100, Uwe Völker48,153, Biqi Wang154, Peter E Weeke5,43, Bob Weijs38, Raul Weiss155, Stefan Weiss48,153, Quinn S Wells43, Kerri L Wiggins19, Jorge A Wong156, Daniel Woo157, Bradford B Worrall158, Pil-Sung Yang118, Jie Yao31, Zachary T Yoneda43, Tanja Zeller137,138, Lingyao Zeng86, Steven A Lubitz1,2,159, Kathryn L Lunetta15,154, Patrick T Ellinor160,161,162.   

Abstract

Atrial fibrillation (AF) affects more than 33 million individuals worldwide1 and has a complex heritability2. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individuals, including 65,446 with AF. In total, we identified 97 loci significantly associated with AF, including 67 that were novel in a combined-ancestry analysis, and 3 that were novel in a European-specific analysis. We sought to identify AF-associated genes at the GWAS loci by performing RNA-sequencing and expression quantitative trait locus analyses in 101 left atrial samples, the most relevant tissue for AF. We also performed transcriptome-wide analyses that identified 57 AF-associated genes, 42 of which overlap with GWAS loci. The identified loci implicate genes enriched within cardiac developmental, electrophysiological, contractile and structural pathways. These results extend our understanding of the biological pathways underlying AF and may facilitate the development of therapeutics for AF.

Entities:  

Mesh:

Year:  2018        PMID: 29892015      PMCID: PMC6136836          DOI: 10.1038/s41588-018-0133-9

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  68 in total

1.  Principal components analysis corrects for stratification in genome-wide association studies.

Authors:  Alkes L Price; Nick J Patterson; Robert M Plenge; Michael E Weinblatt; Nancy A Shadick; David Reich
Journal:  Nat Genet       Date:  2006-07-23       Impact factor: 38.330

2.  PITX2c is expressed in the adult left atrium, and reducing Pitx2c expression promotes atrial fibrillation inducibility and complex changes in gene expression.

Authors:  Paulus Kirchhof; Peter C Kahr; Sven Kaese; Ilaria Piccini; Ismail Vokshi; Hans-Heinrich Scheld; Heinrich Rotering; Lisa Fortmueller; Sandra Laakmann; Sander Verheule; Ulrich Schotten; Larissa Fabritz; Nigel A Brown
Journal:  Circ Cardiovasc Genet       Date:  2011-01-31

Review 3.  Arrhythmogenic Right Ventricular Cardiomyopathy.

Authors:  Domenico Corrado; Mark S Link; Hugh Calkins
Journal:  N Engl J Med       Date:  2017-01-05       Impact factor: 91.245

4.  Whole-genome sequence variation, population structure and demographic history of the Dutch population.

Authors: 
Journal:  Nat Genet       Date:  2014-06-29       Impact factor: 38.330

5.  A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

Authors:  H Lahat; E Pras; T Olender; N Avidan; E Ben-Asher; O Man; E Levy-Nissenbaum; A Khoury; A Lorber; B Goldman; D Lancet; M Eldar
Journal:  Am J Hum Genet       Date:  2001-10-25       Impact factor: 11.025

6.  Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

Authors:  Brenda Gerull; Arnd Heuser; Thomas Wichter; Matthias Paul; Craig T Basson; Deborah A McDermott; Bruce B Lerman; Steve M Markowitz; Patrick T Ellinor; Calum A MacRae; Stefan Peters; Katja S Grossmann; Jörg Drenckhahn; Beate Michely; Sabine Sasse-Klaassen; Walter Birchmeier; Rainer Dietz; Günter Breithardt; Eric Schulze-Bahr; Ludwig Thierfelder
Journal:  Nat Genet       Date:  2004-10-17       Impact factor: 38.330

7.  Common variants in KCNN3 are associated with lone atrial fibrillation.

Authors:  Patrick T Ellinor; Kathryn L Lunetta; Nicole L Glazer; Arne Pfeufer; Alvaro Alonso; Mina K Chung; Moritz F Sinner; Paul I W de Bakker; Martina Mueller; Steven A Lubitz; Ervin Fox; Dawood Darbar; Nicholas L Smith; Jonathan D Smith; Renate B Schnabel; Elsayed Z Soliman; Kenneth M Rice; David R Van Wagoner; Britt-M Beckmann; Charlotte van Noord; Ke Wang; Georg B Ehret; Jerome I Rotter; Stanley L Hazen; Gerhard Steinbeck; Albert V Smith; Lenore J Launer; Tamara B Harris; Seiko Makino; Mari Nelis; David J Milan; Siegfried Perz; Tõnu Esko; Anna Köttgen; Susanne Moebus; Christopher Newton-Cheh; Man Li; Stefan Möhlenkamp; Thomas J Wang; W H Linda Kao; Ramachandran S Vasan; Markus M Nöthen; Calum A MacRae; Bruno H Ch Stricker; Albert Hofman; André G Uitterlinden; Daniel Levy; Eric Boerwinkle; Andres Metspalu; Eric J Topol; Aravinda Chakravarti; Vilmundur Gudnason; Bruce M Psaty; Dan M Roden; Thomas Meitinger; H-Erich Wichmann; Jacqueline C M Witteman; John Barnard; Dan E Arking; Emelia J Benjamin; Susan R Heckbert; Stefan Kääb
Journal:  Nat Genet       Date:  2010-02-21       Impact factor: 38.330

8.  Heritability of Atrial Fibrillation.

Authors:  Lu-Chen Weng; Seung Hoan Choi; Derek Klarin; J Gustav Smith; Po-Ru Loh; Mark Chaffin; Carolina Roselli; Olivia L Hulme; Kathryn L Lunetta; Josée Dupuis; Emelia J Benjamin; Christopher Newton-Cheh; Sekar Kathiresan; Patrick T Ellinor; Steven A Lubitz
Journal:  Circ Cardiovasc Genet       Date:  2017-12

9.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

10.  Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis.

Authors:  Po-Ru Loh; Gaurav Bhatia; Alexander Gusev; Hilary K Finucane; Brendan K Bulik-Sullivan; Samuela J Pollack; Teresa R de Candia; Sang Hong Lee; Naomi R Wray; Kenneth S Kendler; Michael C O'Donovan; Benjamin M Neale; Nick Patterson; Alkes L Price
Journal:  Nat Genet       Date:  2015-11-02       Impact factor: 38.330

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  196 in total

Review 1.  Genetics of Atrial Fibrillation in 2020: GWAS, Genome Sequencing, Polygenic Risk, and Beyond.

Authors:  Carolina Roselli; Michiel Rienstra; Patrick T Ellinor
Journal:  Circ Res       Date:  2020-06-18       Impact factor: 17.367

Review 2.  Molecular Basis of Atrial Fibrillation Pathophysiology and Therapy: A Translational Perspective.

Authors:  Stanley Nattel; Jordi Heijman; Liping Zhou; Dobromir Dobrev
Journal:  Circ Res       Date:  2020-06-18       Impact factor: 17.367

Review 3.  Epidemiology of Atrial Fibrillation in the 21st Century: Novel Methods and New Insights.

Authors:  Jelena Kornej; Christin S Börschel; Emelia J Benjamin; Renate B Schnabel
Journal:  Circ Res       Date:  2020-06-18       Impact factor: 17.367

4.  Meta-Analysis of 26 638 Individuals Identifies Two Genetic Loci Associated With Left Ventricular Ejection Fraction.

Authors:  Hélène Choquet; Khanh K Thai; Chen Jiang; Dilrini K Ranatunga; Thomas J Hoffmann; Alan S Go; Alistair C Lindsay; Margaret G Ehm; Dawn M Waterworth; Neil Risch; Catherine Schaefer
Journal:  Circ Genom Precis Med       Date:  2020-06-30

5.  Differentially expressed genes for atrial fibrillation identified by RNA sequencing from paired human left and right atrial appendages.

Authors:  Alison M Thomas; Claudia P Cabrera; Malcolm Finlay; Kulvinder Lall; Muriel Nobles; Richard J Schilling; Kristie Wood; Charles A Mein; Michael R Barnes; Patricia B Munroe; Andrew Tinker
Journal:  Physiol Genomics       Date:  2019-06-07       Impact factor: 3.107

6.  Genetic Susceptibility for Atrial Fibrillation in Patients Undergoing Atrial Fibrillation Ablation.

Authors:  M Benjamin Shoemaker; Daniela Husser; Carolina Roselli; Meelad Al Jazairi; Jonathan Chrispin; Michael Kühne; Benjamin Neumann; Stacey Knight; Han Sun; Sanghamitra Mohanty; Christian Shaffer; Sébastien Thériault; Lauren Lee Rinke; Joylene E Siland; Diane M Crawford; Laura Ueberham; Omeed Zardkoohi; Petra Büttner; Bastiaan Geelhoed; Steffen Blum; Stefanie Aeschbacher; Jonathan D Smith; David R Van Wagoner; Rebecca Freudling; Martina Müller-Nurasyid; Jay Montgomery; Zachary Yoneda; Quinn Wells; Tariq Issa; Peter Weeke; Victoria Jacobs; Isabelle C Van Gelder; Gerhard Hindricks; John Barnard; Hugh Calkins; Dawood Darbar; Greg Michaud; Stefan Kääb; Patrick Ellinor; Andrea Natale; Mina Chung; Saman Nazarian; Michael J Cutler; Moritz F Sinner; David Conen; Michiel Rienstra; Andreas Bollmann; Dan M Roden; Steven Lubitz
Journal:  Circ Arrhythm Electrophysiol       Date:  2020-02-14

7.  Early sarcomere and metabolic defects in a zebrafish pitx2c cardiac arrhythmia model.

Authors:  Michelle M Collins; Gustav Ahlberg; Camilla Vestergaard Hansen; Stefan Guenther; Rubén Marín-Juez; Anna M Sokol; Hadil El-Sammak; Janett Piesker; Ylva Hellsten; Morten S Olesen; Didier Y R Stainier; Pia R Lundegaard
Journal:  Proc Natl Acad Sci U S A       Date:  2019-11-08       Impact factor: 11.205

Review 8.  Insight into atrial fibrillation through analysis of the coding transcriptome in humans.

Authors:  Marja Steenman
Journal:  Biophys Rev       Date:  2020-07-15

9.  Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank.

Authors:  Seung Hoan Choi; Sean J Jurgens; Lu-Chen Weng; James P Pirruccello; Carolina Roselli; Mark Chaffin; Christina J-Y Lee; Amelia W Hall; Amit V Khera; Kathryn L Lunetta; Steven A Lubitz; Patrick T Ellinor
Journal:  Circ Res       Date:  2019-11-06       Impact factor: 17.367

10.  Thyroid Function and Dysfunction in Relation to 16 Cardiovascular Diseases.

Authors:  Susanna C Larsson; Elias Allara; Amy M Mason; Karl Michaëlsson; Stephen Burgess
Journal:  Circ Genom Precis Med       Date:  2019-03
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