Nature Search

Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

Analyses of genome and exome sequencing data identify rare coding and structural variants associated with atrial fibrillation and highlight genetic links between atrial fibrillation and cardiomyopathies.

Seung Hoan Choi
Sean J. Jurgens
Patrick T. Ellinor
Research06 Mar 2025
Nature Genetics

Volume: 57, P: 548-562
Genetics of myocardial interstitial fibrosis in the human heart and association with disease

Genome-wide association analyses identify 11 loci associated with native myocardial T1 time, a marker of interstitial fibrosis, providing insights into the pathways involved in myocardial fibrosis and myofibroblast cell state acquisition.

Victor Nauffal
Paolo Di Achille
Steven A. Lubitz
Research20 Apr 2023
Nature Genetics

Volume: 55, P: 777-786
Noninvasive assessment of organ-specific and shared pathways in multi-organ fibrosis using T1 mapping

T1 mapping noninvasively assesses fibrosis in multiple organs and enables risk stratification of mortality and provides insights into shared and organ-specific pathways underlying fibrosis.

Victor Nauffal
Marcus D. R. Klarqvist
Patrick T. Ellinor
Research28 May 2024
Nature Medicine

Volume: 30, P: 1749-1760
The impact of common and rare genetic variants on bradyarrhythmia development

Genome-wide analyses identify variants associated with sinus node dysfunction, distal conduction disease and pacemaker implantation, implicating ion channel function, cardiac developmental programs and sarcomeric structure in bradyarrhythmia susceptibility.

Lu-Chen Weng
Joel T. Rämö
Steven A. Lubitz
ResearchOpen Access02 Jan 2025
Nature Genetics

Volume: 57, P: 53-64
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

The QT interval is a heritable electrocardiographic measure associated with arrhythmia risk when prolonged. Here, the authors used a series of genetic analyses to identify genetic loci, pathways, therapeutic targets, and relationships with cardiovascular disease.

William J. Young
Najim Lahrouchi
Patricia B. Munroe
ResearchOpen Access01 Sept 2022
Nature Communications

Volume: 13, P: 1-18
Genetic analysis of right heart structure and function in 40,000 people

Genome-wide analyses of cardiac magnetic resonance imaging data identify loci associated with right heart structure and function. A polygenic predictor of right ventricular ejection fraction is associated with dilated cardiomyopathy risk.

James P. Pirruccello
Paolo Di Achille
Patrick T. Ellinor
Research13 Jun 2022
Nature Genetics

Volume: 54, P: 792-803
Deep learning of left atrial structure and function provides link to atrial fibrillation risk

In this study, a deep learning-based model of left atrial size in UK Biobank enabled genome-wide association studies in 35,049 healthy participants. Several lines of evidence, including the PITX2 locus, linked left atrial dysfunction to atrial fibrillation risk.

James P. Pirruccello
Paolo Di Achille
Patrick T. Ellinor
ResearchOpen Access21 May 2024
Nature Communications

Volume: 15, P: 1-17
Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass

A genome-wide association study of cardiac magnetic resonance-derived left ventricular mass index including 43,000 UK Biobank participants reveals 12 associations (11 novel), implicating genes involved in cardiac contractility and cardiomyopathy.

Shaan Khurshid
Julieta Lazarte
Steven A. Lubitz
ResearchOpen Access21 Mar 2023
Nature Communications

Volume: 14, P: 1-11
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Accurate classification of genetic variants is critical for research and patient care. Here, the authors report that population-based associations between rare variants and quantitative endophenotypes for monogenic diseases can provide support for variant pathogenicity.

Jennifer L. Halford
Valerie N. Morrill
Steven A. Lubitz
ResearchOpen Access30 Aug 2022
Nature Communications

Volume: 13, P: 1-11
Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Jennifer L. Halford
Valerie N. Morrill
Steven A. Lubitz
Amendments and CorrectionsOpen Access30 Sept 2022
Nature Communications

Volume: 13, P: 1
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Analysis of whole-exome sequencing data from over 200,000 individuals in the UK Biobank provides new insights into the contribution of rare variants to cardiometabolic diseases and traits.

Sean J. Jurgens
Seung Hoan Choi
Patrick T. Ellinor
Research17 Feb 2022
Nature Genetics

Volume: 54, P: 240-250
Wearable accelerometer-derived physical activity and incident disease

Shaan Khurshid
Lu-Chen Weng
Steven A. Lubitz
ResearchOpen Access02 Sept 2022
npj Digital Medicine

Volume: 5, P: 1-10

Search

Filter By:

Search

Quick links