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The last decade has seen an explosion in genome-wide association studies (GWAS) in many diseases. With these—and its worth reminding ourselves that this is the primary goal of GWAS—have come valuable insights into pathogenic pathways. Some have been predictable (eg, variants affecting antigen presentation, co-stimulation and T-cell responses in immune-mediated diseases) and others, unexpected (eg, autophagy in Crohn’s disease). Until recently, such studies were performed in disease cohorts specifically ascertained for the purpose, with clear evidence that the larger the cohort the more loci will be found.1
Such disease-specific cohorts with well-defined phenotypes can be assembled where there are engaged clinical communities, but may be tricky to ascertain for more general traits. Into this category falls diverticular disease. Diverticulosis affects up to 50% of the population but was poorly studied at a genetic level until recently, despite clear evidence for its relatively high heritability.2 3 In Gut, Schafmayer et al report on a large-scale analysis using clinical and genetic data from the UK Biobank. This population cohort totals 500 000 individuals, among whom ~32 000 have a recorded diagnosis of diverticular disease according to the international classification of disease (ICD) 9/10 coding. The authors went on to replicate their findings in a hospital-based case–control cohort.4 Interestingly, a similar approach was recently deployed by Maguire et al, using the same biobank ‘discovery’ dataset and a separate independent hospital-based registry as replication cohort.5 The earlier study identified 39 …
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