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

Association analyses of rare variants identify two genes associated with refractive error.

PloS one - 1 Jan 2022

Patasova Karina, Haarman Annechien E G, Musolf Anthony M, Mahroo Omar A, Rahi Jugnoo S, Falchi Mario, Verhoeven Virginie J M, Bailey-Wilson Joan E, Klaver Caroline C W, Duggal Priya, Klein Alison, Guggenheim Jeremy A, Hammond Chris J, Hysi Pirro G

Abstract excerpt

PURPOSE: Genetic variants identified through population-based genome-wide studies are generally of high frequency, exerting their action in the central part of the refractive error spectrum. However, the power to identify associations with variants of lower minor allele frequency is greatly reduced, requiring considerable sample sizes. Here we aim to assess the impact of rare variants on genetic variation of...

Read the complete abstract on PubMed

Topics

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

Share to Gene Frequency
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome-Wide Association Study

Share to Polymorphism, Single Nucleotide

Share to Refractive Errors

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 36137074
DOI: 10.1371/journal.pone.0272379
PMCID: PMC9499304

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association analyses of rare variants identify two genes associated with refractive error.PMID 36137074Read ↗

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.Semantic proximity Read ↗

A Common Glaucoma-risk Variant of SIX6 Alters Retinal Nerve Fiber Layer and Optic Disc Measures in a European Population: The EPIC-Norfolk Eye Study.Semantic proximity Read ↗

Multi-ancestry genome-wide association analyses of refractive error augment genetic discovery and polygenic prediction.Semantic proximity Read ↗

Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility lociSemantic proximity Read ↗

Variation in PTCHD2, CRISP3, NAP1L4, FSCB, and AP3B2 associated with spherical equivalent.Semantic proximity Read ↗

Advances in the genetics of refractive errors: Contributions from the CREAM consortium.Semantic proximity Read ↗

The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort.Semantic proximity Read ↗

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.Semantic proximity Read ↗

Identification of novel loci influencing refractive error in East Asian populations using an extreme phenotype design.Semantic proximity Read ↗

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.Semantic proximity Read ↗

Association Between Myopic Refractive Error and Primary Open-Angle GlaucomaSemantic proximity Read ↗

Genome-wide association studies, Polygenic Risk Scores and Mendelian randomisation: an overview of common genetic epidemiology methods for ophthalmic cliniciansSemantic proximity Read ↗

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