| Title |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
|
|---|---|
| Published in |
Nature Genetics, July 2018
|
| DOI | 10.1038/s41588-018-0171-3 |
| Pubmed ID | |
| Authors |
Jonas B. Nielsen, Rosa B. Thorolfsdottir, Lars G. Fritsche, Wei Zhou, Morten W. Skov, Sarah E. Graham, Todd J. Herron, Shane McCarthy, Ellen M. Schmidt, Gardar Sveinbjornsson, Ida Surakka, Michael R. Mathis, Masatoshi Yamazaki, Ryan D. Crawford, Maiken E. Gabrielsen, Anne Heidi Skogholt, Oddgeir L. Holmen, Maoxuan Lin, Brooke N. Wolford, Rounak Dey, Håvard Dalen, Patrick Sulem, Jonathan H. Chung, Joshua D. Backman, David O. Arnar, Unnur Thorsteinsdottir, Aris Baras, Colm O’Dushlaine, Anders G. Holst, Xiaoquan Wen, Whitney Hornsby, Frederick E. Dewey, Michael Boehnke, Sachin Kheterpal, Bhramar Mukherjee, Seunggeun Lee, Hyun M. Kang, Hilma Holm, Jacob Kitzman, Jordan A. Shavit, José Jalife, Chad M. Brummett, Tanya M. Teslovich, David J. Carey, Daniel F. Gudbjartsson, Kari Stefansson, Gonçalo R. Abecasis, Kristian Hveem, Cristen J. Willer |
| Abstract |
To identify genetic variation underlying atrial fibrillation, the most common cardiac arrhythmia, we performed a genome-wide association study of >1,000,000 people, including 60,620 atrial fibrillation cases and 970,216 controls. We identified 142 independent risk variants at 111 loci and prioritized 151 functional candidate genes likely to be involved in atrial fibrillation. Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defects in humans (GATA4, MYH6, NKX2-5, PITX2, TBX5)1, or near genes important for striated muscle function and integrity (for example, CFL2, MYH7, PKP2, RBM20, SGCG, SSPN). Pathway and functional enrichment analyses also suggested that many of the putative atrial fibrillation genes act via cardiac structural remodeling, potentially in the form of an 'atrial cardiomyopathy'2, either during fetal heart development or as a response to stress in the adult heart. |
X Demographics
The data shown below were collected from the profiles of 65 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 25 | 38% |
| United Kingdom | 4 | 6% |
| Japan | 2 | 3% |
| Canada | 2 | 3% |
| Norway | 1 | 2% |
| Brazil | 1 | 2% |
| India | 1 | 2% |
| Sweden | 1 | 2% |
| Singapore | 1 | 2% |
| Other | 5 | 8% |
| Unknown | 22 | 34% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 32 | 49% |
| Scientists | 29 | 45% |
| Practitioners (doctors, other healthcare professionals) | 3 | 5% |
| Science communicators (journalists, bloggers, editors) | 1 | 2% |
Mendeley readers
The data shown below were compiled from readership statistics for 325 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 325 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 69 | 21% |
| Student > Ph. D. Student | 58 | 18% |
| Student > Bachelor | 27 | 8% |
| Student > Master | 24 | 7% |
| Student > Doctoral Student | 20 | 6% |
| Other | 50 | 15% |
| Unknown | 77 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 85 | 26% |
| Medicine and Dentistry | 69 | 21% |
| Agricultural and Biological Sciences | 31 | 10% |
| Computer Science | 11 | 3% |
| Nursing and Health Professions | 7 | 2% |
| Other | 33 | 10% |
| Unknown | 89 | 27% |
Attention Score in Context
This research output has an Altmetric Attention Score of 224. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 20 January 2023.
All research outputs
#173,419
of 25,837,817 outputs
Outputs from Nature Genetics
#251
of 7,639 outputs
Outputs of similar age
#3,494
of 344,119 outputs
Outputs of similar age from Nature Genetics
#10
of 66 outputs
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