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Three very recent reports provide convincing statistical evidence (P < 10(-8)), at a genome-wide level, of the association of common polymorphisms with three different common diseases: systemic lupus erythematosus (IRF5), prostate cancer and type 1 diabetes (IFIH1 region). This adds to the trickle–soon to be a flood–of disease association results that are highly unlikely to be false positives. There are other convincing examples in the last 12 months: age-related macular degeneration (CFH), type 1 diabetes (IL2RA, also known as CD25) and type 2 diabetes (TCF7L2). Given 20 years of a literature full of irreproducible results, what has changed?

Original publication




Journal article


Nat Genet

Publication Date





731 - 733


Alleles, Biometry, Epistasis, Genetic, False Positive Reactions, Female, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genomics, Humans, Male, Polymorphism, Genetic