Current Projects

Crohn's disease meta-analysis

This is an expanded meta-analysis of 6 separate GWA studies in Crohn's disease, including adult and early-onset cohorts from North America, United Kingdom, France / Belgium, and Germany (a total of 6,333 patients with Crohn's disease; 15,056 healthy controls). The top hits were replicated in an independent panel of 14,934 Crohn's patients and 13,647 healthy controls from Australia, France, Germany, Israel, Italy, Netherlands, New Zealand, Spain, Sweden, UK, and USA. This study has increased the tally of confirmed Crohn's disease genes to 71. Preliminary data were presented at Digestive Diseases Week 2010 by Miles Parkes. The full paper has now been published in Nature Genetics

Ulcerative colitis meta-analysis

The meta-analysis of ulcerative colitis has been performed in parallel with the Crohn's disease study, using the same methodology : imputation with HapMap3 data, meta-analysis and replication. 6 GWA studies were included from USA, UK, Germany and Sweden (a total of 6,782 patients with UC and 20,099 healthy controls). The replication phase of this experiment has to date included a further 7,765 patients with UC and 9,177 from Australia, Germany, Italy, Lithuania, New Zealand, Norway, Netherlands, Sweden, UK and USA. This study has identified a total of 29 novel disease loci; with 18 previously known, the total number of confirmed UC susceptibility loci is 47. Preliminary data were presented at Digestive Diseases Week 2010 by John Rioux. The full paper has now been accepted for publication at Nature Genetics.


Immunochip is a custom-made chip that includes approx., 200,000 SNPs relevant to multiple different immune-mediated diseases including Crohn's disease and ulcerative colitis. The IIBDGC are typing approximately 15,000 patients with Crohn's disease, 12,000 with UC and 21,000 healthy controls. The experiment is designed both to fine-map the 99 known IBD susceptibility loci and also to attempt to replicate statistically weaker signals from both of the large meta-analyses. In addition it should provide many insights into the shared genetic susceptibility with other immune-mediated diseases (e.g. rheumatoid arthritis, psoriasis, ankylosing spondylosis, type I diabetes mellitus).

Genotype-phenotype analysis

We are presently conducting a series of sub-phenotype analyses using existing GWAS (and in future Immunochip) data. A list of these studies will be posted in future. If you would like to propose a project that requires access to full genotype data, please complete and submit the project proposal form (available in the Downloads section).

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