Fig. 3: Effect sizes on cornea curvature, axial length and spherical equivalent for CC-associated variants.

Corneal curvature (CC)-associated genetic variants identified from CREAM (n = 44,042) were grouped based on the patterns of the associations of effect alleles with axial length (AL; n = 10,851) and spherical equivalent (n = 95,505). Group A—variants associated with AL only (‘eye-size’ determining genetic variants); the effect allele of each variant was associated with eye size: a larger eye with both a flatter CC and longer AL (positive β on both CC and AL; bar in red), and a smaller eye with both a steeper CC and shorter AL (negative β; bar in blue). These variants were not associated with spherical equivalent. Group B—variants associated with spherical equivalent; the allele associated with a steeper CC was associated with a more negative refractive error (or vice versa). These variants were not associated with AL, except those at loci IGFBP5/TNP1, HUS1, RP11-91P17.1, and FGF9. Group C—variants not associated with spherical equivalent or AL. For the associations with axial length and spherical equivalent, FDR < 0.01 was considered significance. The colour of the bar represents a positive genetic effect (in red) or a negative genetic effect (in blue).