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

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Hélène Choquet, Ronald B. Melles, Jie Yin, Thomas J. Hoffmann, Khanh K. Thai, Mark N. Kvale, Yambazi Banda, Alison J. Hardcastle, Stephen J. Tuft, M. Maria Glymour, Catherine Schaefer, Neil Risch, K. Saidas Nair, Pirro G. Hysi, Eric Jorgenson

Original languageEnglish
Article number301
JournalCommunications Biology
Volume3
Issue number1
DOIs
Published1 Dec 2020

King's Authors

Abstract

Central corneal thickness (CCT) is one of the most heritable human traits, with broad-sense heritability estimates ranging between 0.68 to 0.95. Despite the high heritability and numerous previous association studies, only 8.5% of CCT variance is currently explained. Here, we report the results of a multiethnic meta-analysis of available genome-wide association studies in which we find association between CCT and 98 genomic loci, of which 41 are novel. Among these loci, 20 were significantly associated with keratoconus, and one (RAPSN rs3740685) was significantly associated with glaucoma after Bonferroni correction. Two-sample Mendelian randomization analysis suggests that thinner CCT does not causally increase the risk of primary open-angle glaucoma. This large CCT study explains up to 14.2% of CCT variance and increases substantially our understanding of the etiology of CCT variation. This may open new avenues of investigation into human ocular traits and their relationship to the risk of vision disorders.

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