Publications by authors named "L A Cupples"

Genome-wide association studies (GWAS) have identified numerous body mass index (BMI) loci. However, most underlying mechanisms from risk locus to BMI remain unknown. Leveraging omics data through integrative analyses could provide more comprehensive views of biological pathways on BMI.

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Article Synopsis
  • Genome-wide association studies (GWAS) have successfully identified genes linked to telomere length, but previous research hadn't validated these findings until now.
  • In a large analysis involving over 211,000 people, the study discovered five new signals linked to telomere length and highlighted the importance of blood/immune cells in this area.
  • The researchers confirmed that the genes KBTBD6 and POP5 truly affect telomere length by demonstrating that manipulating these genes can lengthen telomeres and that their regulation is crucial for understanding telomere biology.
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Introduction: Children with early-identified unilateral hearing loss (UHL) might be at risk for delays in early speech and language, functional communication, psychosocial skills, and quality of life (QOL). However, a paucity of relevant research prohibits strong conclusions. This study aimed to provide new evidence relevant to this issue.

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Coronary artery calcification (CAC), a measure of subclinical atherosclerosis, predicts future symptomatic coronary artery disease (CAD). Identifying genetic risk factors for CAC may point to new therapeutic avenues for prevention. Currently, there are only four known risk loci for CAC identified from genome-wide association studies (GWAS) in the general population.

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Objective: Clonal hematopoiesis of indeterminate potential (CHIP) is an aging-related accumulation of somatic mutations in hematopoietic stem cells, leading to clonal expansion. CHIP presence has been implicated in atherosclerotic coronary heart disease (CHD) and all-cause mortality, but its association with incident type 2 diabetes (T2D) is unknown. We hypothesized that CHIP is associated with elevated risk of T2D.

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