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Article
Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate
Clonal hematopoiesis of indeterminate potential (CHIP), whereby somatic mutations in hematopoietic stem cells confer a selective advantage and drive clonal expansion, not only correlates with age but also conf...
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Article
The Association of Upper Airway Anatomy with Brain Structure: The Multi-Ethnic Study of Atherosclerosis
Sleep apnea, affecting an estimated 1 in 4 American adults, has been reported to be associated with both brain structural abnormality and impaired cognitive function. Obstructive sleep apnea is known to be aff...
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Article
Open AccessMachine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores
We construct non-linear machine learning (ML) prediction models for systolic and diastolic blood pressure (SBP, DBP) using demographic and clinical variables and polygenic risk scores (PRSs). We developed a tw...
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Article
Open AccessValidation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes
Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere le...
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Article
Open AccessDeterminants of mosaic chromosomal alteration fitness
Clonal hematopoiesis (CH) is characterized by the acquisition of a somatic mutation in a hematopoietic stem cell that results in a clonal expansion. These driver mutations can be single nucleotide variants in ...
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Article
Open AccessGenetic drivers of heterogeneity in type 2 diabetes pathophysiology
Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes1,2 and molecular mechanisms that are often specific to cell type3,4. Here, to characterize the genetic c...
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Article
Open AccessMetabolomic profiles of sleep-disordered breathing are associated with hypertension and diabetes mellitus development
Sleep-disordered breathing (SDB) is a prevalent disorder characterized by recurrent episodic upper airway obstruction. Using data from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), we apply ...
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Article
Risk of Sleep Apnea Is Associated with Abdominal Obesity Among Asian Americans: Comparing Waist-to-Hip Ratio and Body Mass Index
This study examines associations between the risk of sleep apnea and abdominal obesity (assessed by waist-to-hip ratio (WHR)) and general obesity (assessed by body mass index (BMI)) in a sample of Chinese and ...
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Article
Open AccessMosaic chromosomal alterations in blood across ancestries using whole-genome sequencing
Megabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers for a host of human diseases. Here, to gain a better understanding of mCA rates in genetically diverse populations, we analy...
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Article
Open AccessThe association of upper airway anatomy with cognitive test performance: the Multi-Ethnic Study of Atherosclerosis
Numerous upper airway anatomy characteristics are risk factors for sleep apnea, which affects 26% of older Americans, and more severe sleep apnea is associated with cognitive impairment. This study explores th...
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Article
Obstructive sleep apnoea heterogeneity and cardiovascular disease
Obstructive sleep apnoea (OSA), characterized by recurrent periods of upper airway obstruction and intermittent hypoxaemia, is prevalent in patients with cardiovascular disease (CVD), and is therefore importan...
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Article
Open AccessUse and misuse of random forest variable importance metrics in medicine: demonstrations through incident stroke prediction
Machine learning tools such as random forests provide important opportunities for modeling large, complex modern data generated in medicine. Unfortunately, when it comes to understanding why machine learning mode...
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Article
Open AccessMethod comparison and estimation of causal effects of insomnia on health outcomes in a survey sampled population
Applying causal inference methods, such as weighting and matching methods, to a survey sampled population requires properly incorporating the survey weights and design to obtain effect estimates that are repre...
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Article
Open AccessEvaluating the use of blood pressure polygenic risk scores across race/ethnic background groups
We assess performance and limitations of polygenic risk scores (PRSs) for multiple blood pressure (BP) phenotypes in diverse population groups. We compare “clum**-and-thresholding” (PRSice2) and LD-based (LD...
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Article
Author Correction: The power of genetic diversity in genome-wide association studies of lipids
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Article
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis
Mutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells (HSCs), leading to clonal haematopoiesis1. These lesions are precursors for blood cancers2–6, but the basis of their fi...
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Article
Sleep apnea and carotid atherosclerosis in the Multi-Ethnic Study of Atherosclerosis (MESA): leveraging state-of-the-art vascular imaging
To further characterize the relationship between obstructive sleep apnea (OSA) and carotid atherosclerosis, we examined the structural and metabolic features of carotid plaque using hybrid 18-F-fluorodeoxygluc...
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Article
Open AccessAn integrated multi-omics analysis of sleep-disordered breathing traits implicates P2XR4 purinergic signaling
Sleep Disordered Breathing (SDB) is a common disease associated with increased risk for cardiometabolic, cardiovascular, and cognitive diseases. How SDB affects the molecular environment is still poorly unders...
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Article
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies provides an attractive solution to the problem of collecting large sample sizes for discovering rare variants associated with c...
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Article
Genetics of circadian rhythms and sleep in human health and disease
Circadian rhythms and sleep are fundamental biological processes integral to human health. Their disruption is associated with detrimental physiological consequences, including cognitive, metabolic, cardiovasc...
