Persistent Identifier
|
doi:10.18710/VC2PSH |
Publication Date
|
2021-06-17 |
Title
| Summary statistics for "Biobank-driven genomic discovery yields new insight into atrial fibrillation biology" |
Author
| Nielsen, Jonas B. (NTNU – Norwegian University of Science and Technology) - ORCID: 0000-0002-6654-2852
Willer, Cristen J. (University of Michigan) - ORCID: 0000-0001-5645-4966 |
Point of Contact
|
Use email button above to contact.
Gabrielsen, Maiken E. (NTNU – Norwegian University of Science and Technology) |
Description
| 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. The data format is .tbl (2018-07-30) |
Subject
| Medicine, Health and Life Sciences |
Keyword
| Atrial fibrillation
GWAS
The Trøndelag Health Study (HUNT)
Cardiac arrhythmia
Ischemic heart failure
deCODE
The Michigan Genomics Initiative (MGI)
DiscovEHR
UK Biobank
The AFGen Consortium |
Related Publication
| Nielsen, J.B., Thorolfsdottir, R.B., Fritsche, L.G. et al. Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. Nat Genet 50, 1234–1239 (2018). https://doi.org/10.1038/s41588-018-0171-3 doi: 10.1038/s41588-018-0171-3 https://doi.org/10.1038/s41588-018-0171-3 |
Producer
| NTNU – Norwegian University of Science and Technology (NTNU) https://www.ntnu.edu/
University of Michigan https://umich.edu/ |
Distributor
| NTNU – Norwegian University of Science and Technology (NTNU – Norwegian University of Science and Technology) (NTNU) https://dataverse.no/dataverse/ntnu |
Distribution Date
| 2018-07-30 |
Depositor
| Tellefsen, Janne |
Deposit Date
| 2021-06-01 |
Data Type
| Summary statistics (results) from GWAS analysis. |
Software
| METAL, Version: 2011-03-25
GCTA, Version: 1.91.1
Plink, Version: 1.9
SAIGE, Version: 0.19
BOLT-LMM, Version: 2.3.1
EPACTS, Version: 3.3
Genome Analysis Toolkit, Version: 3.4.0
DEPICT, Version: 2014-07-21
GREGOR, Version: 1.4.0
R software pSI package, Version: 1.1
Philips TraceMasterVue ECG Management System
R, Version: 3.4.3
Python, Version: 3.4.5
BAFRegress, Version: 0.9.3
Illumina GenomeStudio, Version: Module 1.9.4, algorithm GenTrain 2.0
LASER, Version: 2.0
Minimac, Version: 3
SQLite, Version: 3 |