Journal
COMMUNICATIONS BIOLOGY
Volume 3, Issue 1, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s42003-020-1037-7
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Funding
- Robert Wood Johnson Foundation
- Wayne and Gladys Valley Foundation
- Ellison Medical Foundation
- Kaiser Permanente Community Benefit Programs
- National Institute on Aging
- National Institute of Mental Health
- National Institute of Health Common Fund [RC2 AG036607]
- National Eye Institute (NEI) grant [R01 EY027004]
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) [R01 DK116738]
- NIH-NEI [EY002162]
- NEI [EY022891]
- Research to Prevent Blindness William and Mary Greve Special Scholar Award
- Marin Community Foundation-Kathlyn McPherson Masneri and Arno P. Masneri Fund
- That Man May See Inc.
- Moorfields Eye Charity
- National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital
- UCL Institute of Ophthalmology
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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 (RAPSNrs3740685) 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. Helene Choquet et al. report the largest genome-wide analysis of central corneal thickness (CCT) to date, finding novel associations at 41 loci. The study, which includes individuals from 4 ethnic groups, including African Americans and Hispanic/Latino individuals, increases the variance explained for CCT from 8.5% to 14.2%. Study findings also suggest that thinner CCT does not causally increase the risk of primary open-angle glaucoma.
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