-
Article
Open AccessClonal hematopoiesis of indeterminate potential is associated with acute kidney injury
Age is a predominant risk factor for acute kidney injury (AKI), yet the biological mechanisms underlying this risk are largely unknown. Clonal hematopoiesis of indeterminate potential (CHIP) confers increased ...
-
Article
Open AccessMitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants
Experimental models suggest an important role for mitochondrial dysfunction in the pathogenesis of chronic kidney disease (CKD) and acute kidney injury (AKI), but little is known regarding the impact of common...
-
Article
Open AccessMitochondrial DNA copy number is associated with incident chronic kidney disease and proteinuria in the AIDS linked to the intravenous experience cohort
We evaluated the prospective association of mitochondrial DNA copy number (mtDNA CN) with markers of kidney function among a cohort of persons who inject drugs (PWID). This is a Prospective cohort study nested...
-
Article
Open AccessDeleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality
Mitochondria carry their own circular genome and disruption of the mitochondrial genome is associated with various aging-related diseases. Unlike the nuclear genome, mitochondrial DNA (mtDNA) can be present at...
-
Article
Open AccessGenetic insights into resting heart rate and its role in cardiovascular disease
Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associate...
-
Article
Open AccessTranscriptome- and proteome-wide association studies nominate determinants of kidney function and damage
The pathophysiological causes of kidney disease are not fully understood. Here we show that the integration of genome-wide genetic, transcriptomic, and proteomic association studies can nominate causal determi...
-
Article
Open AccessPriors, population sizes, and power in genome-wide hypothesis tests
Genome-wide tests, including genome-wide association studies (GWAS) of germ-line genetic variants, driver tests of cancer somatic mutations, and transcriptome-wide association tests of RNAseq data, carry a hig...
-
Article
Open AccessGenetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease
The 3-dimensional spatial and 2-dimensional frontal QRS-T angles are measures derived from the vectorcardiogram. They are independent risk predictors for arrhythmia, but the underlying biology is unknown. Usin...
-
Article
Open AccessGenetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways
The QT interval is an electrocardiographic measure representing the sum of ventricular depolarization and repolarization, estimated by QRS duration and JT interval, respectively. QT interval abnormalities are ...
-
Article
Multi-ancestry genome-wide gene–sleep interactions identify novel loci for blood pressure
Long and short sleep duration are associated with elevated blood pressure (BP), possibly through effects on molecular pathways that influence neuroendocrine and vascular systems. To gain new insights into the ...
-
Article
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci
Educational attainment is widely used as a surrogate for socioeconomic status (SES). Low SES is a risk factor for hypertension and high blood pressure (BP). To identify novel BP loci, we performed multi-ancest...
-
Article
Open AccessPublisher Correction: A meta-analysis of genome-wide association studies identifies multiple longevity genes
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-22613-2
-
Article
Open AccessSequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treat...
-
Article
Open AccessGenome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women
Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. In a genome-wide association study meta-analysis of 256,523 Europeans aged 60 years and...
-
Article
Open AccessMitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs
Mitochondrial DNA copy number (mtDNA-CN) has been associated with a variety of aging-related diseases, including all-cause mortality. However, the mechanism by which mtDNA-CN influences disease is not currentl...
-
Article
Open AccessMitochondrial DNA copy number and incident atrial fibrillation
Mechanistic studies suggest that mitochondria DNA (mtDNA) dysfunction may be associated with increased risk of atrial fibrillation (AF). The association between mtDNA copy number (mtDNA-CN) and incident AF in ...
-
Article
Open AccessMulti-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction
The electrocardiographic PR interval reflects atrioventricular conduction, and is associated with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and cardiovascular mortality. Here ...
-
Article
Open AccessConsistent RNA sequencing contamination in GTEx and other data sets
A challenge of next generation sequencing is read contamination. We use Genotype-Tissue Expression (GTEx) datasets and technical metadata along with RNA-seq datasets from other studies to understand factors th...
-
Article
Open AccessHuman cardiac myosin light chain 4 (MYL4) mosaic expression patterns vary by sex
Sex disparities modulate cardiac function, although the proteins and mechanisms remain to be elucidated. We recently demonstrated a mosaic pattern of protein expression in the heart for over 100 proteins. Here...
-
Article
New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders
Excessive alcohol consumption is one of the main causes of death and disability worldwide. Alcohol consumption is a heritable complex trait. Here we conducted a meta-analysis of genome-wide association studies...
