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Genetic interactions affecting human gene expression identified by variance association mapping

Viñuela, Ana
Zheng, Hou-Feng
Richards, J Brent
Small, Kerrin S
Spector, Timothy D
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Published in eLife. 2014, vol. 3, e01381
Abstract Non-additive interaction between genetic variants, or epistasis, is a possible explanation for the gap between heritability of complex traits and the variation explained by identified genetic loci. Interactions give rise to genotype dependent variance, and therefore the identification of variance quantitative trait loci can be an intermediate step to discover both epistasis and gene by environment effects (GxE). Using RNA-sequence data from lymphoblastoid cell lines (LCLs) from the TwinsUK cohort, we identify a candidate set of 508 variance associated SNPs. Exploiting the twin design we show that GxE plays a role in ∼70% of these associations. Further investigation of these loci reveals 57 epistatic interactions that replicated in a smaller dataset, explaining on average 4.3% of phenotypic variance. In 24 cases, more variance is explained by the interaction than their additive contributions. Using molecular phenotypes in this way may provide a route to uncovering genetic interactions underlying more complex traits.DOI: http://dx.doi.org/10.7554/eLife.01381.001.
Keywords BiostatisticsEpistasis, GeneticHumansMultifactorial InheritanceQuantitative Trait, Heritable
PMID: 24771767
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Research group Population Genomics and Genetics of Complex Traits (892)
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BROWN, Andrew Anand et al. Genetic interactions affecting human gene expression identified by variance association mapping. In: eLife, 2014, vol. 3, p. e01381. doi: 10.7554/eLife.01381 https://archive-ouverte.unige.ch/unige:90267

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Deposited on : 2016-12-13

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