Active: Myopia Clear all

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 2023-07-25

Identification of loci involved in childhood visual acuity and associations with cognitive skills and educational attainment.

Schmitz J, Abbondanza F et al.

NPJ Sci Learn

Visual acuity significantly contributes to quality of life. Deficits in childhood are associated wit...

Visual acuity

557

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 2022-12-05

A Genome-Wide Association Study for Susceptibility to Axial Length in Highly Myopic Eyes.

Lu Q, Du Y et al.

Phenomics

High myopia has long been highly prevalent worldwide with a largely yet unexplained genetic contribu...

Axial length in high myopia

350

Participants

N/A

Studies

Details PubMed

GWAS 2022-11-17

Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia.

Clark R, Pozarickij A et al.

PLoS Genet

Myopia most often develops during school age, with the highest incidence in countries with intensive...

Refractive error (autorefraction measured)

88334

Participants

N/A

Studies

Details PubMed

GWAS 2022-07-13

Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.

Xue Z, Yuan J et al.

EBioMedicine

Ocular diseases may exhibit common clinical symptoms and epidemiological comorbidity. However, the e...

Age-related macular degeneration

66387

Participants

N/A

Studies

Details PubMed

GWAS 2022-04-21

Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.

He W, Han X et al.

JAMA Ophthalmol

Importance: Keratoconus can be a debilitating corneal ectasia in which the cornea thins, bulges, and...

Corneal resistance factor (MTAG)

123734

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 2022-01-12

Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.

Guggenheim JA, Clark R et al.

Hum Mol Genet

Refractive errors are associated with a range of pathological conditions, such as myopic maculopathy...

Refractive error

51624

Participants

N/A

Studies

Details PubMed

GWAS 2022-01-12

<i>PDE4B</i> Proposed as a High Myopia Susceptibility Gene in Chinese Population.

Zhao F, Chen W et al.

Front Genet

Myopia is the most common cause of refractive error worldwide. High myopia is a severe type of myopi...

High myopia

Replicated

56546

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

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

Identification of loci involved in childhood visual acuity and associations with cognitive skills and educational attainment.

Schmitz J, Abbondanza F et al.

NPJ Sci Learn

Visual acuity

2023-07-25

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 Association Study for Susceptibility to Axial Length in Highly Myopic Eyes.

Lu Q, Du Y et al.

Phenomics

Axial length in high myopia

2022-12-05

Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia.

Clark R, Pozarickij A et al.

PLoS Genet

Refractive error (autorefraction measured)

2022-11-17

Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.

Xue Z, Yuan J et al.

EBioMedicine

Age-related macular degeneration

2022-07-13

Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.

He W, Han X et al.

JAMA Ophthalmol

Corneal resistance factor (MTAG)

2022-04-21

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

Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.

Guggenheim JA, Clark R et al.

Hum Mol Genet

Refractive error

2022-01-12

<i>PDE4B</i> Proposed as a High Myopia Susceptibility Gene in Chinese Population.

Zhao F, Chen W et al.

Front Genet

High myopia

2022-01-12

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