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Chunk #26 — Results — Application to Crohn’s disease GWAS

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Functional mapping and annotation of genetic associations with FUMA.
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To further illustrate its utility, we applied FUMA to the summary statistics of Crohn’s disease47 (CD; 6333 cases and 15,056 controls). With FUMA, 95 lead SNPs from 184 independent significant SNPs across 71 genomic loci were identified for CD (Supplementary Fig. 3 and Supplementary Data 7–10). First, describing the results of positional mapping of deleterious coding SNPs and eQTL mapping, FUMA prioritized 95 unique genes from 32 loci (Supplementary Fig. 4), of which 39 genes were implicated by deleterious coding SNPs and 69 were implicated by eQTLs influencing expression of these genes (12 genes had both deleterious coding SNPs and eQTLs; Table 2 and Supplementary Data 11). The prioritized 95 genes include 37 known candidate genes that were also reported in the original study47 including well-known CD-related genes such as NOD2, IL23R, and SLC22A5, while 58 genes were novel (Supplementary Fig. 3; see Supplementary Note 4 and Supplementary Figs. 5–7 for detail results). These novel candidates include 18 genes that are physically located outside the GWAS risk loci, and the novel candidates mainly share immune system related biological functions with 37 previously known genes (Supplementary Data 12).