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A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor α gene as a quantitative trait locus for eye size in white Europeans.

Guggenheim JA, McMahon G, Kemp JP et al.

23401653 PubMed ID
GWAS Study Type
9383 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

GJ
Guggenheim JA
MG
McMahon G
KJ
Kemp JP
AS
Akhtar S
SP
St Pourcain B
NK
Northstone K
RS
Ring SM
ED
Evans DM
SG
Smith GD
TN
Timpson NJ
WC
Williams C
Chapter II

Abstract

Summary of the research findings

Purpose: Corneal curvature is a key determinant of the refractive power of the eye. Variants in two genes, FKBP12-rapamycin complex-associated protein 1 (FRAP1) on chromosome 1p36.2 and platelet-derived growth factor receptor alpha (PDGFRA) on chromosome 4q12, have shown genome-wide significant association with normal variation in corneal curvature in a study of subjects of Asian origin. Variants at the PDGFRA locus have also shown genome-wide significant association with corneal astigmatism. Whether these variants influence other ocular parameters such as axial length has yet to be reported. We performed a genome-wide association study for corneal curvature in white European subjects from a population-based birth cohort, with the aim of replicating and extending the above findings.

2,023 European ancestry children

Chapter III

Study Statistics

Key metrics and study information

9383
Total Participants
GWAS
Study Type
Yes
Replicated
2,008 Chinese ancestry adult individuals, 2,281 Malay ancestry adult individuals, 2,142 Indian ancestry adult individuals, 929 Chinese ancestry children
Replication Participants
South East Asian, South Asian, European, East Asian
Ancestry
U.K.
Recruitment Country
Chapter IV

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