SNPs were analyzed for association to the phenotype which led to their inclusion in the replication cohort. Results for the most significant region in the GWAS and all SNPs which showed significant replication are given in Table 3 and full results are listed in Appendix 4. There were 4 results with a p-value <0.05, none of which pass a multiple testing correction for 86 SNPs. One SNP, located downstream of the gene ‘KH domain containing, RNA binding, signal transduction associated 3’ (KHDRBS3), was significant for average CDR, and in a consistent direction to the discovery data. One SNP, located within the gene ‘ubiquitin protein ligase E3 component n-recognin 7’ (UBR7), was significant for the phenotype CCT and also had an effect in the same direction as the discovery data. Functional information is lacking for UBR7. Ocular trait information had also been collected for the 50 Southampton controls, enabling a similar quantitative analysis in controls for these 2 SNPs. Neither was significant perhaps suggesting that their effects are specific to glaucoma cases, although the control sample size is limited. The final
