720 Rare Variants in CRC Susceptibility Genes Do Not Predispose to Serrated Polyposis Syndrome

G A A b st ra ct s both Crohn's disease (CD) and ulcerative colitis (UC), were significant eQTLs for INPP5E and UBA7, respectively. The CD-associated SNP rs2549794 was an eQTL for ERAP2, while 2 UC-associated SNPs rs661946 and rs9847710 were eQTLs for NXPE1, REXO2 (both associated with rs661946), and SFMBT1, respectively. Finally, the CRC-associated SNP rs3802842 was noted to be a significant eQTL for C11orf93. Conclusion: eQTL mapping in the human colon reveals a large number of significant cis eQTLs. A number of SNPs associated with CRC and IBD were noted to be eQTLs in the colon. Further studies are needed to understand the functional mechanisms by which these SNPs impact disease risk.