Chunk #57 — Methods — SNP and gene findings in the context of previous analyses — Overlap of previous rare coding variants in OCD and GWAS gene-findings
Second, since Halvorsen et al.88 describe an overall excess of loss of function variants in OCD cases relative to controls specifically within loss of function intolerant genes (Table S4 in Halvorsen et al.88), we analyzed the overlap between those genes and our GWAS-derived genes. We looked up 200 genes with a probability of loss of function intolerance > 0.995 (derived from Lek et al.112) and effect size estimate > 1. We further tested for a difference in the proportion of these pLI > 0.995 genes with effect size estimate >1 vs ≤1 within the set of genes highlighted in the OCD GWAS (n = 251) vs. outside this set using a two-sided Fisher’s exact test.
