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100 Genes for IBD... Whatever Next!?


James C Lee, MD1,2, and Miles Parkes, MD2

The advent of genome-wide association scanning (GWAS) has revolutionized our understanding of complex disease genetics, with Crohn’s disease [1–3] and ulcerative colitis (UC) [4–7] being among the chief beneficiaries of this new technology. By genotyping single-nucleotide polymorphisms (SNPs) throughout the entire genome, GWAS interrogates over 70% of common variation genome-wide. The technique is hypothesis-free, with associated loci identified purely on the statistical grounds of allele frequency differing significantly between cases and controls. A consequent strength is that the results can drive completely new insights regarding causal mechanisms – such as the role of autophagy in Crohn’s disease, a cellular process that had never previously been considered as contributing to disease pathogenesis.

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