A method to decipher pleiotropy by detecting underlying heterogeneity driven by hidden subgroups applied to autoimmune and neuropsychiatric diseases.

doi:10.1038/ng.3572

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Article

A method to decipher pleiotropy by detecting underlying heterogeneity driven by hidden subgroups applied to autoimmune and neuropsychiatric diseases.

Nature genetics - 1 Jul 2016

Han Buhm, Pouget Jennie G, Slowikowski Kamil, Stahl Eli, Lee Cue Hyunkyu, Diogo Dorothee, Hu Xinli, Park Yu Rang, Kim Eunji, Gregersen Peter K, Dahlqvist Solbritt Rantapää, Worthington Jane, Martin Javier, Eyre Steve, Klareskog Lars, Huizinga Tom, Chen Wei-Min, Onengut-Gumuscu Suna, Rich Stephen S, Wray Naomi R, Raychaudhuri Soumya

Abstract excerpt

There is growing evidence of shared risk alleles for complex traits (pleiotropy), including autoimmune and neuropsychiatric diseases. This might be due to sharing among all individuals (whole-group pleiotropy) or a subset of individuals in a genetically heterogeneous cohort (subgroup heterogeneity). Here we describe the use of a well-powered statistic, BUHMBOX, to distinguish between those two situations using...

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PMID: 27182969
DOI: 10.1038/ng.3572
PMCID: PMC4925284

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