<codeBook xmlns="ddi:codebook:2_5" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:schemaLocation="ddi:codebook:2_5 https://ddialliance.org/Specification/DDI-Codebook/2.5/XMLSchema/codebook.xsd" version="2.5"><docDscr><citation><titlStmt><titl>Summary statistics for "Biobank-driven genomic discovery yields new insight into atrial fibrillation biology"</titl><IDNo agency="DOI">doi:10.18710/VC2PSH</IDNo></titlStmt><distStmt><distrbtr source="archive">DataverseNO</distrbtr><distDate>2021-06-17</distDate></distStmt><verStmt source="archive"><version date="2023-09-28" type="RELEASED">1</version></verStmt><biblCit>Nielsen, Jonas B.; Willer, Cristen J., 2021, "Summary statistics for "Biobank-driven genomic discovery yields new insight into atrial fibrillation biology"", https://doi.org/10.18710/VC2PSH, DataverseNO, V1</biblCit></citation></docDscr><stdyDscr><citation><titlStmt><titl>Summary statistics for "Biobank-driven genomic discovery yields new insight into atrial fibrillation biology"</titl><IDNo agency="DOI">doi:10.18710/VC2PSH</IDNo></titlStmt><rspStmt><AuthEnty affiliation="NTNU – Norwegian University of Science and Technology">Nielsen, Jonas B.</AuthEnty><AuthEnty affiliation="University of Michigan">Willer, Cristen J.</AuthEnty></rspStmt><prodStmt><producer abbr="NTNU">NTNU – Norwegian University of Science and Technology</producer><producer>University of Michigan</producer><software version="2011-03-25">METAL</software><software version="1.91.1">GCTA</software><software version="1.9">Plink</software><software version="0.19">SAIGE</software><software version="2.3.1">BOLT-LMM</software><software version="3.3">EPACTS</software><software version="3.4.0">Genome Analysis Toolkit</software><software version="2014-07-21">DEPICT</software><software version="1.4.0">GREGOR</software><software version="1.1">R software pSI package</software><software version="1.1">Philips TraceMasterVue ECG Management System</software><software version="3.4.3">R</software><software version="3.4.5">Python</software><software version="0.9.3">BAFRegress</software><software version="Module 1.9.4, algorithm GenTrain 2.0">Illumina GenomeStudio</software><software version="2.0">LASER</software><software version="3">Minimac</software><software version="3">SQLite</software></prodStmt><distStmt><distrbtr source="archive">DataverseNO</distrbtr><distrbtr affiliation="NTNU – Norwegian University of Science and Technology" abbr="NTNU" URI="https://dataverse.no/dataverse/ntnu">NTNU – Norwegian University of Science and Technology</distrbtr><contact affiliation="NTNU – Norwegian University of Science and Technology" email="maiken.e.gabrielsen@ntnu.no">Gabrielsen, Maiken E.</contact><depositr>Tellefsen, Janne</depositr><depDate>2021-06-01</depDate><distDate>2018-07-30</distDate></distStmt><holdings URI="https://doi.org/10.18710/VC2PSH"/></citation><stdyInfo><subject><keyword xml:lang="en">Medicine, Health and Life Sciences</keyword><keyword>Atrial fibrillation</keyword><keyword>GWAS</keyword><keyword>The Trøndelag Health Study (HUNT)</keyword><keyword>Cardiac arrhythmia</keyword><keyword>Ischemic heart failure</keyword><keyword>deCODE</keyword><keyword>The Michigan Genomics Initiative (MGI)</keyword><keyword>DiscovEHR</keyword><keyword>UK Biobank</keyword><keyword>The AFGen Consortium</keyword></subject><abstract date="2018-07-30">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.&#xd;
The data format is .tbl</abstract><sumDscr><nation>Norway</nation><nation>Iceland</nation><nation>United States</nation><nation>United Kingdom</nation><geogCover>Trøndelag</geogCover><geogCover>Michigan</geogCover><dataKind>Summary statistics (results) from GWAS analysis.</dataKind></sumDscr></stdyInfo><method><dataColl><sources/></dataColl><anlyInfo/></method><dataAccs><setAvail/><useStmt/><notes type="DVN:TOU" level="dv">&lt;a href="http://creativecommons.org/publicdomain/zero/1.0">CC0 1.0&lt;/a></notes></dataAccs><othrStdyMat><relPubl><citation><titlStmt><titl>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</titl><IDNo agency="doi">10.1038/s41588-018-0171-3</IDNo></titlStmt><biblCit>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</biblCit></citation><ExtLink URI="https://doi.org/10.1038/s41588-018-0171-3"/></relPubl></othrStdyMat></stdyDscr><otherMat ID="f101076" URI="https://dataverse.no/api/access/datafile/101076" level="datafile"><labl>00_README_Afib.txt</labl><notes level="file" type="DATAVERSE:CONTENTTYPE" subject="Content/MIME Type">text/plain</notes></otherMat><otherMat ID="f101011" URI="https://dataverse.no/api/access/datafile/101011" level="datafile"><labl>NG2018-AFib-gwas-summary-statistics.txt</labl><notes level="file" type="DATAVERSE:CONTENTTYPE" subject="Content/MIME Type">text/plain</notes></otherMat></codeBook>