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Nature Research, Nature Genetics, 7(48), p. 803-810, 2016

DOI: 10.1038/ng.3572

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

Journal article published in 2016 by Buhm Han, Jennie G. Pouget, Park Yr, Pouget Jg, Kamil Slowikowski, Eli Stahl, Cue Hyunkyu Lee, Lee Ch, Dorothee Diogo, Yu Rang Park, Xinli Hu, Peter K. Gregersen, Eunji Kim, Solbritt Rantapää Dahlqvist, Gregersen Pk and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

There is growing evidence of shared risk alleles between complex traits (pleiotropy), including autoimmune and neuropsychiatric diseases. This might be due to sharing between all individuals (whole-group pleiotropy), or a subset of individuals within a genetically heterogeneous cohort (subgroup heterogeneity). BUHMBOX is a well-powered statistic distinguishing between these two situations using genotype data. We observed a shared genetic basis between 11 autoimmune diseases and type 1 diabetes (T1D, p0.2, 6,670 T1D cases and 7,279 RA cases). Genetic sharing between seronegative and seropostive RA (p