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Optic nerve assessment is important for many blinding diseases, with cup-to-disc ratio (CDR) assessments commonly used in both diagnosis and progression monitoring of glaucoma patients. Optic disc, cup, rim area and CDR measurements all show substantial variation between human populations and high heritability estimates within populations. To identify loci underlying these quantitative traits, we performed a genome-wide association study in two Australian twin cohorts and identified rs3858145,  P  = 6.2 × 10 −10 , near the  ATOH7  gene as associated with the mean disc area.  ATOH7  is known from studies in model organisms to play a key role in retinal ganglion cell formation. The association with rs3858145 was replicated in a cohort of UK twins, with a meta-analysis of the combined data yielding  P  = 3.4 × 10 −10 . Imputation further increased the evidence for association for several SNPs in and around  ATOH7  ( P  = 1.3 × 10 −10  to 4.3 × 10 −11 , top SNP rs1900004). The meta-analysis also provided suggestive evidence for association for the cup area at rs690037,  P  = 1.5 × 10 −7 , in the gene  RFTN1 . Direct sequencing of  ATOH7  in 12 patients with optic nerve hypoplasia, one of the leading causes of blindness in children, revealed two novel non-synonymous mutations (Arg65Gly, Ala47Thr) which were not found in 90 unrelated controls (combined Fisher's exact  P  = 0.0136). Furthermore, the Arg65Gly variant was found to have very low frequency (0.00066) in an additional set of 672 controls.

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size