biostudies-literature00530Choquet HNEI NIH HHSNIDDK NIH HHSNIA NIH HHS301https://www.ebi.ac.uk/biostudies/studies/S-EPMC7289804biostudies-literatureUnknown3(1)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.Communications biologyA multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.PMC7289804R01 EY022891RC2 AG036607R01 EY027004P30 EY002162R01 DK116738Risch NNair KSGlymour MMTuft SJJorgenson EThai KKChoquet HHoffmann TJKvale MNHysi PGMelles RBSchaefer CBanda YYin JHardcastle AJ53falseA multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.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.2020-01-01T00:00:00Z2020 Jun2024-11-06T23:53:17.195Z2020-06-25T07:28:44ZS-EPMC72898043252815910.1038/s42003-020-1037-7