Active: Keratoconus Clear all

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 2021-03-01

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

Hardcastle AJ, Liskova P et al.

Commun Biol

Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning th...

Keratoconus

Replicated

117031

Participants

N/A

Studies

Details PubMed

GWAS 2020-12-11

Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.

Jiang X, Dellepiane N et al.

Commun Biol

Corneal resistance factor (CRF) is altered during corneal diseases progression. Genome-wide-associat...

Corneal resistance factor

Replicated

86159

Participants

N/A

Studies

Details PubMed

GWAS 2020-06-11

A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.

Choquet H, Melles RB et al.

Commun Biol

Central corneal thickness (CCT) is one of the most heritable human traits, with broad-sense heritabi...

Central corneal thickness

44039

Participants

N/A

Studies

Details PubMed

GWAS 2019-12-19

Association of Genetic Variation With Keratoconus.

McComish BJ, Sahebjada S et al.

JAMA Ophthalmol

Importance: Keratoconus is a condition in which the cornea progressively thins and protrudes in a co...

Keratoconus

Replicated

5853

Participants

N/A

Studies

Details PubMed

GWAS 2019-06-27

Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.

Khawaja AP, Rojas Lopez KE et al.

JAMA Ophthalmol

Importance: Keratoconus is an important cause of visual loss in young adults, but little is known ab...

Corneal resistance factor

Replicated

9029

Participants

N/A

Studies

Details PubMed

GWAS 2018-05-14

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Iglesias AI, Mishra A et al.

Nat Commun

Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases suc...

Central corneal thickness

25910

Participants

N/A

Studies

Details PubMed

GWAS 2016-11-15

Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos.

Gao X, Nannini DR et al.

Hum Mol Genet

The cornea is the outermost layer of the eye and is a vital component of focusing incoming light on ...

Central corneal thickness

Replicated

4515

Participants

N/A

Studies

Details PubMed

GWAS 2013-03-14

A genome-wide association study of central corneal thickness in Latinos.

Gao X, Gauderman WJ et al.

Invest Ophthalmol Vis Sci

Purpose: Central corneal thickness (CCT) is a clinically important risk factor for primary open-angl...

Central corneal thickness

Replicated

1768

Participants

N/A

Studies

Details PubMed

GWAS 2013-01-06

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Lu Y, Vitart V et al.

Nat Genet

Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma...

Corneal structure

20020

Participants

N/A

Studies

Details PubMed

GWAS 2012-09-13

Genetic variants near PDGFRA are associated with corneal curvature in Australians.

Mishra A, Yazar S et al.

Invest Ophthalmol Vis Sci

Purpose: Irregularity in the corneal curvature (CC) is highly associated with various eye disorders ...

Corneal curvature

2801

Participants

N/A

Studies

Details PubMed

GWAS 2011-10-14

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

Burdon KP, Macgregor S et al.

Invest Ophthalmol Vis Sci

Purpose: Keratoconus is a progressive disorder of the cornea that can lead to severe visual impairme...

Corneal structure

Replicated

5098

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

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 multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

Hardcastle AJ, Liskova P et al.

Commun Biol

Keratoconus

2021-03-01

Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.

Jiang X, Dellepiane N et al.

Commun Biol

Corneal resistance factor

2020-12-11

A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.

Choquet H, Melles RB et al.

Commun Biol

Central corneal thickness

2020-06-11

Association of Genetic Variation With Keratoconus.

McComish BJ, Sahebjada S et al.

JAMA Ophthalmol

Keratoconus

2019-12-19

Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.

Khawaja AP, Rojas Lopez KE et al.

JAMA Ophthalmol

Corneal resistance factor

2019-06-27

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Iglesias AI, Mishra A et al.

Nat Commun

Central corneal thickness

2018-05-14

Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos.

Gao X, Nannini DR et al.

Hum Mol Genet

Central corneal thickness

2016-11-15

A genome-wide association study of central corneal thickness in Latinos.

Gao X, Gauderman WJ et al.

Invest Ophthalmol Vis Sci

Central corneal thickness

2013-03-14

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Lu Y, Vitart V et al.

Nat Genet

Corneal structure

2013-01-06

Genetic variants near PDGFRA are associated with corneal curvature in Australians.

Mishra A, Yazar S et al.

Invest Ophthalmol Vis Sci

Corneal curvature

2012-09-13

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

Burdon KP, Macgregor S et al.

Invest Ophthalmol Vis Sci

Corneal structure

2011-10-14