Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Polygenic modifiers impact penetrance and expressivity in telomere biology disorders

3 Jun 2025

Abstract excerpt

BACKGROUNDTelomere biology disorders (TBDs) exhibit incomplete penetrance and variable expressivity, even among individuals harboring the same pathogenic variant. We assessed whether common genetic variants associated with telomere length combine with large-effect variants to impact penetrance and expressivity in TBDs.METHODSWe constructed polygenic scores (PGS) for telomere length in the UK Biobank to quantify...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Telomeres, Telomerase, and Senescence

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 40459934
DOI: 10.1172/jci191107

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Polygenic modifiers impact penetrance and expressivity in telomere biology disordersPMID 40459934Read ↗

Polygenic modifiers of expressivity in telomere biology disordersSemantic proximity Read ↗

Genetic risk in telomere biology disorders: it adds up.Semantic proximity Read ↗

Polygenic Risk and Rare Variants in Endotypes of Idiopathic Pulmonary FibrosisSemantic proximity Read ↗

Polygenic risk and rare variants in endotypes of idiopathic pulmonary fibrosis: a genetic analysis of population-based and case-control cohorts.Semantic proximity Read ↗

Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.Semantic proximity Read ↗

Rare variants and survival of patients with idiopathic pulmonary fibrosisSemantic proximity Read ↗

Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine.Semantic proximity Read ↗

Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.Semantic proximity Read ↗

Functional genomics for curation of variants in telomere biology disorder associated genes, a systematic reviewSemantic proximity Read ↗

Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review.Semantic proximity Read ↗

Telomere dysfunction and mucociliary impairment drive idiopathic pulmonary fibrosis susceptibility: insights from a Sardinian whole-exome study.Semantic proximity Read ↗

Clinical manifestations of telomere biology disorders in adultsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.