Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Genome-wide association study identifies 18 novel loci associated with left atrial volume and function

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Volunteer first responders for out-of-hospital cardiac arrest at home: the missing link for improved survival?

    Research output: Contribution to journalEditorialResearchpeer-review

  3. Risk of sports-related sudden cardiac death in women

    Research output: Contribution to journalReviewResearchpeer-review

  1. Comprehensive cardiac rehabilitation for patients following infective endocarditis: results of the randomized CopenHeartIE trial

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Severity of congenital long QT syndrome disease manifestation and risk of depression, anxiety, and mortality: a nationwide study

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Effect of antipsychotics on mortality risk in patients with dementia with and without comorbidities

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

AIMS : Left atrial (LA) volume and function impose significant impact on cardiovascular pathogenesis if compromised. We aimed at investigating the genetic architecture of LA volume and function using cardiac magnetic resonance imaging data.

METHODS AND RESULTS : We used the UK Biobank, which is a large prospective population study with available phenotypic and genetic data. On a subset of 35 658 European individuals, we performed genome-wide association studies on five volumetric and functional LA variables, generated using a machine learning algorithm. In total, we identified 18 novel genetic loci, mapped to genes with known roles in cardiomyopathy (e.g. MYO18B, TTN, DSP, ANKRD1) and arrhythmia (e.g. TTN, CASQ2, MYO18B, C9orf3). We observed high genetic correlation between LA volume and function and stroke, which was most pronounced for LA passive emptying fraction (rg = 0.40, P = 4 × 10-6). To investigate whether the genetic risk of atrial fibrillation (AF) is associated with LA traits that precede overt AF, we produced a polygenetic risk score for AF. We found that polygenetic risk for AF is associated with increased LA volume and decreased LA function in participants without AF [LAmax 0.25 (mL/m2)/standard deviation (SD), 95% confidence interval (CI) (0.15; 0.36), P = 5.13 × 10-6; LAmin 0.21 (mL/m2)/SD, 95% CI (0.15; 0.28), P = 1.86 × 10-10; LA active emptying fraction -0.35%/SD, 95% CI (-0.43; -0.26), P = 3.14 × 10-14].

CONCLUSION : We report on 18 genetic loci associated with LA volume and function and show evidence for several plausible candidate genes important for LA structure.

Original languageEnglish
JournalEuropean Heart Journal
Volume42
Issue number44
Pages (from-to)4523-4534
Number of pages12
ISSN0195-668X
DOIs
Publication statusPublished - 21 Nov 2021

Bibliographical note

© The Author(s) 2021. Published by Oxford University Press on behalf of the European Society of Cardiology.

    Research areas

  • Atrial Appendage, Atrial Fibrillation/genetics, Atrial Function, Left, Genome-Wide Association Study, Heart Atria/diagnostic imaging, Humans, Prospective Studies

ID: 68676439