We also tested whether the observed association between rs12442183 and OD was driven by the SNP's regulatory effect on other genes in the region (see Integrative cis-eQTL Analysis in Supplementary Information). With the independent data from the R package ESLiM, only RGMA and MCTP2 showed alternative splicing in healthy brain tissue. We further correlated the genotype of rs12442183 with available exon expression of RGMA, CHD2, FAM174B and MCTP2 from BRAINEAC. There was a significant correlation of rs12442183 genotype with specific exons of RGMA and MCTP2. However, the expression of MCTP2 is very low among 27 human tissues.
