Chunk #62 — Methods — SNP and gene findings in the context of previous analyses — Overlap of previous rare coding variants in OCD and GWAS gene findings
Second, as 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 (supplementary table 13 in ref. 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 ref. 111) 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 versus ≤1 within the set of genes highlighted in the OCD GWAS (n = 251) versus outside this set using a two-sided Fisher’s exact test.
