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GWAS 2025-05-23

Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children.

Wang Y, Zhang Y et al.

NPJ Genom Med

To identify novel genetic loci for children refractive error, we performed a meta-analysis of two ge...

Spherical equivalent

Replicated

5330

Participants

N/A

Studies

Details PubMed

GWAS 2023-04-04

A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.

Clark R, Lee SS et al.

EBioMedicine

High myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ -6.00 diopters (D), is ...

Spherical equivalent refractive error averaged between the 2 eyes (MTAG)

468769

Participants

N/A

Studies

Details PubMed

GWAS 2023-01-03

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Musolf AM, Haarman AEG et al.

Commun Biol

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition cause...

Mean spherical equivalent (Gene-based burden)

27006

Participants

N/A

Studies

Details PubMed

GWAS 2022-02-26

A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear.

Patasova K, Khawaja AP et al.

Hum Mol Genet

Refractive errors, particularly myopia, are the most common eye conditions, often leading to serious...

Glasses or contact lenses use (age of onset) (UKB data field 2217)

340318

Participants

N/A

Studies

Details PubMed

GWAS 2021-09-11

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

Han X, Liu T et al.

J Genet Genomics

The global "myopia boom" has raised significant international concerns. Despite a higher myopia prev...

Spherical equivalent

Replicated

5390

Participants

N/A

Studies

Details PubMed

GWAS 2018-10-10

Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

Shah RL, Guggenheim JA

Hum Genet

Previous studies have suggested that naturally occurring genetic variation contributes to the risk o...

Corneal astigmatism

86335

Participants

N/A

Studies

Details PubMed

GWAS 2018-09-11

Association analysis of exome variants and refraction, axial length, and corneal curvature in a European-American population.

Vergara C, Bomotti SM et al.

Hum Mutat

Refractive errors, myopia, and hyperopia are common visual disorders greatly affecting older individ...

Axial length

874

Participants

N/A

Studies

Details PubMed

GWAS 2018-05-28

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.

Tedja MS, Wojciechowski R et al.

Nat Genet

Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasing...

Spherical equivalent

66127

Participants

N/A

Studies

Details PubMed

GWAS 2016-03-29

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Fan Q, Verhoeven VJ et al.

Nat Commun

Myopia is the most common human eye disorder and it results from complex genetic and environmental c...

Spherical equivalent (joint analysis main effects and education interaction)

50351

Participants

N/A

Studies

Details PubMed

GWAS 2014-11-04

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Li Q, Wojciechowski R et al.

Hum Genet

To identify genetic variants associated with refractive astigmatism in the general population, meta-...

Refractive astigmatism

47820

Participants

N/A

Studies

Details PubMed

GWAS 2013-08-09

Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia.

Khor CC, Miyake M et al.

Hum Mol Genet

Severe myopia (defined as spherical equivalent < -6.0 D) is a predominant problem in Asian countr...

Myopia (severe)

Replicated

9830

Participants

N/A

Studies

Details PubMed

GWAS 2013-03-07

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.

Stambolian D, Wojciechowski R et al.

Hum Mol Genet

Visual refractive errors (REs) are complex genetic traits with a largely unknown etiology. To date, ...

Refractive error

Replicated

27043

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children.

Wang Y, Zhang Y et al.

NPJ Genom Med

Spherical equivalent

2025-05-23

A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.

Clark R, Lee SS et al.

EBioMedicine

Spherical equivalent refractive error averaged between the 2 eyes (MTAG)

2023-04-04

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Musolf AM, Haarman AEG et al.

Commun Biol

Mean spherical equivalent (Gene-based burden)

2023-01-03

A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear.

Patasova K, Khawaja AP et al.

Hum Mol Genet

Glasses or contact lenses use (age of onset) (UKB data field 2217)

2022-02-26

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

Han X, Liu T et al.

J Genet Genomics

Spherical equivalent

2021-09-11

Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

Shah RL, Guggenheim JA

Hum Genet

Corneal astigmatism

2018-10-10

Association analysis of exome variants and refraction, axial length, and corneal curvature in a European-American population.

Vergara C, Bomotti SM et al.

Hum Mutat

Axial length

2018-09-11

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.

Tedja MS, Wojciechowski R et al.

Nat Genet

Spherical equivalent

2018-05-28

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Fan Q, Verhoeven VJ et al.

Nat Commun

Spherical equivalent (joint analysis main effects and education interaction)

2016-03-29

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Li Q, Wojciechowski R et al.

Hum Genet

Refractive astigmatism

2014-11-04

Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia.

Khor CC, Miyake M et al.

Hum Mol Genet

Myopia (severe)

2013-08-09

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.

Stambolian D, Wojciechowski R et al.

Hum Mol Genet

Refractive error

2013-03-07