To contrast these data, cis-eQTL analysis of IBD susceptibility loci identified the expression of a number of genes as likely qualitative traits resulting from these polymorphic sites. In the past, genes in the genomic vicinity of IBD-linked polymorphisms have been prioritized as potential factors in disease mechanism, but with the exception of FUT2,37,38 MMEL1,39 UBE2L3,40 SLC22A5,41–43 HLA-DQA1,44 and DAP,39 all of the remaining genes (Table 2) in eQTL pairs are novel direct biological associations with IBD. To completely confirm these findings, a replication in an independent cohort will be necessary. However, these data represent a case study of how the mechanistic relevance of SNPs from GWAS can be refined successfully by eQTL analysis.
