Evidence map›Paper›PMID 31691645›Full record

ArticleCirculation research2020

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

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 and 2 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
78citing papers in PubMed, 7 pooled it
10.4field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

78 citing papers in PubMed, 7 syntheses or guidelines pooled it, 124 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Guideline
  5. Guideline
  6. Pooled it
  7. Association BetweenFrontiers in cardiovascular medicine · 2020
    Pooled it
  8. Trial
  9. Article
  10. Understanding the Diseased Atria.Physiology (Bethesda, Md.) · 2026
    Review
  11. Review
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025
    Review

18 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 3 institutions in 1 country.

Seung Hoan ChoiFrom the Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., L.-C.W., J.P.P., C.R., M.C., C.J.-Y.L., A.W.H., A.V.K., S.A.L., P.T.E.).
Sean J JurgensFrom the Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., L.-C.W., J.P.P., C.R., M.C., C.J.-Y.L., A.W.H., A.V.K., S.A.L., P.T.E.).
Lu-Chen WengFrom the Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., L.-C.W., J.P.P., C.R., M.C., C.J.-Y.L., A.W.H., A.V.K., S.A.L., P.T.E.).
James P PirruccelloFrom the Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., L.-C.W., J.P.P., C.R., M.C., C.J.-Y.L., A.W.H., A.V.K., S.A.L., P.T.E.).
Carolina RoselliFrom the Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., L.-C.W., J.P.P., C.R., M.C., C.J.-Y.L., A.W.H., A.V.K., S.A.L., P.T.E.).
Mark ChaffinFrom the Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., L.-C.W., J.P.P., C.R., M.C., C.J.-Y.L., A.W.H., A.V.K., S.A.L., P.T.E.).
Christina J-Y LeeFrom the Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., L.-C.W., J.P.P., C.R., M.C., C.J.-Y.L., A.W.H., A.V.K., S.A.L., P.T.E.).
Amelia W HallFrom the Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., L.-C.W., J.P.P., C.R., M.C., C.J.-Y.L., A.W.H., A.V.K., S.A.L., P.T.E.).
Amit V KheraFrom the Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., L.-C.W., J.P.P., C.R., M.C., C.J.-Y.L., A.W.H., A.V.K., S.A.L., P.T.E.).
Kathryn L LunettaNHLBI and Boston University's Framingham Heart Study, Framingham, MA (K.L.L.).
Steven A LubitzFrom the Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., L.-C.W., J.P.P., C.R., M.C., C.J.-Y.L., A.W.H., A.V.K., S.A.L., P.T.E.).
Patrick T EllinorFrom the Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., L.-C.W., J.P.P., C.R., M.C., C.J.-Y.L., A.W.H., A.V.K., S.A.L., P.T.E.).
Broad Institute · USMassachusetts General Hospital · USFramingham Heart Study · US

Funding

IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6M
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5M
Genomics of Cardiac ArrhythmiasR01HL139731 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2018 to 2022
$3.3M
AFGen Consortium: Atrial Fibrillation Genomics to Functional AnalysesR01HL128914 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2015 to 2018
$3.1M
Mentoring in Arrhythmia ResearchK24HL105780 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2011 to 2020
$1.2M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NHLBI NIH HHS K24 HL105780NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL128914NHLBI NIH HHS R01 HL139731
6 · The paper itself

Abstract

rationaleGenome-wide association studies have identified over 100 genetic loci for atrial fibrillation (AF); recent work described an association between loss-of-function (LOF) variants in

objectiveWe sought to determine the contribution of rare and common genetic variation to AF risk in the general population.

methodsThe UK Biobank is a population-based study of 500 000 individuals including a subset with genome-wide genotyping and exome sequencing. In this case-control study, we included AF cases and controls of genetically determined white-European ancestry; analyses were performed using a logistic mixed-effects model adjusting for age, sex, the first 4 principal components of ancestry, empirical relationships, and case-control imbalance. An exome-wide, gene-based burden analysis was performed to examine the relationship between AF and rare, high-confidence LOF variants in genes with ≥10 LOF carriers. A polygenic risk score for AF was estimated using the LDpred algorithm. We then compared the contribution of AF polygenic risk score and LOF variants to AF risk.

resultsThe study included 1546 AF cases and 41 593 controls. In an analysis of 9099 genes with sufficient LOF variant carriers, a significant association between AF and rare LOF variants was observed in a single gene,

conclusionsBoth monogenic and polygenic factors contribute to AF risk in the general population. While rare

Indexed as

Multifactorial InheritancePolymorphism, Single NucleotideAgedAtrial FibrillationConnectinDatabases, GeneticExomeFemaleHumansLoss of Function MutationMaleMiddle AgedPenetranceConnectinTTN protein, humanatrial fibrillationexomegeneticspopulationrisk

Identifiers

PMID31691645
PMCPMC7007701
OpenAlexW2984114374

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.