Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

The role of telomeres in human disease

M Armanios - Annual review of genomics and human genetics, 2022 - annualreviews.org
Telomere biology was first studied in maize, ciliates, yeast, and mice, and in recent decades,
it has informed understanding of common disease mechanisms with broad implications for …

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences

OS Burren, RS Dhindsa, SVV Deevi, S Wen, A Nag… - Nature Genetics, 2024 - nature.com
Telomeres protect chromosome ends from damage and their length is linked with human
disease and aging. We developed a joint telomere length metric, combining quantitative …

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies

Z Li, X Li, H Zhou, SM Gaynor, MS Selvaraj… - Nature …, 2022 - nature.com
Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-
variant (RV) associations with complex human diseases and traits. Variant-set analysis is a …

Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential

T Nakao, AG Bick, MA Taub, SM Zekavat, MM Uddin… - Science …, 2022 - science.org
Human genetic studies support an inverse causal relationship between leukocyte telomere
length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL and …

Leukocyte telomere length in children born following blastocyst-stage embryo transfer

C Wang, Y Gu, J Zhou, J Zang, X Ling, H Li, L Hu… - Nature medicine, 2022 - nature.com
Perinatal and childhood adverse outcomes associated with assisted reproductive
technology (ART) has been reported, but it remains unknown whether the initial leukocyte …

Novel genetic loci associated with osteoarthritis in multi-ancestry analyses in the Million Veteran Program and UK Biobank

MLN McDonald, P Lakshman Kumar… - Nature Genetics, 2022 - nature.com
Osteoarthritis is a common progressive joint disease. As no effective medical interventions
are available, osteoarthritis often progresses to the end stage, in which only surgical options …

Age at menopause, leukocyte telomere length, and coronary artery disease in postmenopausal women

A Schuermans, T Nakao, MM Uddin… - Circulation …, 2023 - ahajournals.org
BACKGROUND: Premature menopause is a risk factor for accelerated cardiovascular aging,
but underlying mechanisms remain incompletely understood. This study investigated the …

Telomere length: implications for atherogenesis

H Yin, JG Pickering - Current atherosclerosis reports, 2023 - Springer
Abstract Purpose of Review The purpose of the study is to explore the evidence linking
telomere length with atherosclerotic ischemic disease. Recent Findings There has been a …

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood

YA Jakubek, X Ma, AM Stilp, F Yu, J Bacon… - The American Journal of …, 2025 - cell.com
Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in
human blood. The presence of mLOY is associated with altered blood cell counts and …