To assess eQTL enrichment, specifically to test for an enrichment for a gene regulatory role among top GWAS associations and SDEs, we quantified the enrichment of the number of eQTL target genes (eGenes) associated with OCD-associated SNPs. Expression quantitative trait loci (eQTL) enrichment analysis was performed on (a) SNPs nominally associated with OCD (p<10–3) in the combined and sex-stratified GWAS analysis, and (b) SDEs. This analysis is specifically testing the hypothesis that SNPs modestly associated with OCD (within each sex, and within the combined sample) are enriched for immune or brain eQTLs in comparison to null sets of SNPs that are not associated with OCD. Thus, the comparison is only between SNPs associated with OCD and those not associated with OCD (but matched on genomic features).
