Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort

Abstract The macula, located near the center of the retina in the human eye, is responsible for providing critical functions, such as central, sharp vision. Structural changes in the macula are associated with many ocular diseases, including age-related macular degeneration (AMD) and glaucoma. Altho...

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Bibliographic Details
Published in:Human molecular genetics 2019-04, Vol.28 (7), p.1162-1172
Main Authors: Gao, X Raymond, Huang, Hua, Kim, Heejin
Format: Article
Language:English
Subjects:
Aged
Biological Specimen Banks
Case-Control Studies
Cohort Studies
Female
Genetic Loci
Genetic Predisposition to Disease - genetics
Genome-Wide Association Study - methods
Glaucoma - genetics
Humans
Macula Lutea - pathology
Macula Lutea - physiology
Macular Degeneration - genetics
Male
Middle Aged
Myopia - genetics
Phenotype
Polymorphism, Single Nucleotide - genetics
Retina - metabolism
Retina - physiopathology
Retinal Diseases - genetics
United Kingdom
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Summary:Abstract The macula, located near the center of the retina in the human eye, is responsible for providing critical functions, such as central, sharp vision. Structural changes in the macula are associated with many ocular diseases, including age-related macular degeneration (AMD) and glaucoma. Although macular thickness is a highly heritable trait, there are no prior reported genome-wide association studies (GWASs) of it. Here we describe the first GWAS of macular thickness, which was measured by spectral-domain optical coherence tomography using 68 423 participants from the UK Biobank cohort. We identified 139 genetic loci associated with macular thickness at genome-wide significance (P 
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/ddy422