Publications by authors named "E Boerwinkle"

Background: Sleep is essential to maintaining health and wellbeing of individuals, influencing a variety of outcomes from mental health to cardiometabolic disease. This study aims to assess the relationships between various sleep-related phenotypes and blood metabolites.

Methods: Utilising data from the Hispanic Community Health Study/Study of Latinos, we performed association analyses between 40 sleep-related phenotypes, grouped in several domains (sleep disordered breathing (SDB), sleep duration, sleep timing, self-reported insomnia symptoms, excessive daytime sleepiness (EDS), and heart rate during sleep), and 768 metabolites measured via untargeted metabolomics profiling.

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The relationship between mitochondrial DNA (mtDNA) heteroplasmy and nuclear DNA (nDNA) methylation (CpGs) remains to be studied. We conducted an epigenome-wide association analysis of heteroplasmy burden scores across 10,986 participants (mean age 77, 63% women, and 54% non-White races/ethnicities) from seven population-based observational cohorts. We identified 412 CpGs (FDR p < 0.

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Purpose: The variome of the Turkish (TK) population, a population with a considerable history of admixture and consanguinity, has not been deeply investigated for insights on the genomic architecture of disease.

Methods: We generated and analyzed a database of variants derived from exome sequencing data of 773 TK unrelated, clinically affected individuals with various suspected Mendelian disease traits and 643 unaffected relatives.

Results: Using uniform manifold approximation and projection, we showed that the TK genomes are more similar to those of Europeans and consist of 2 main subpopulations: clusters 1 and 2 ( = 235 and 1181, respectively), which differ in admixture proportion and variome (https://turkishvariomedb.

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Article Synopsis
  • - The study investigates laterality defects, focusing on the genetic variations linked to congenital heart disease (CHD) by analyzing sequencing data from three cohorts, uncovering a higher occurrence of digenic variants compared to control groups.
  • - A digenic model involving 115 known laterality defect genes revealed significant rates of trans-heterozygous digenic variants in affected individuals, particularly in the Baylor, Kids First, and PCGC cohorts (ranging from 2.8% to 13.5%).
  • - The results suggest that epistatic interactions between genes play a crucial role in the genetics of laterality defects, with 23% of identified digenic pairs found in structural complexes of motile
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Screening for social determinants of health (SDOH) has been mandated by health systems nationwide. However, a gap exists in closed-loop referral for care coordination between health care and social services. This article presents the framework of a technology-based project to facilitate closed-loop referral between health care and social service agencies in Greater Houston by leveraging and connecting the existing care coordination technology infrastructure.

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