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• W2113691246 abstract "The expression of a gene can vary across individuals in the general population, as well as between monozygotic twins. This variable expression is assumed to be due to the influence of both genetic and nongenetic factors. Yet little evidence supporting this assumption has been obtained from empirical data. In this study, we used expression data from a large twin cohort to investigate the influences of genetic and nongenetic factors on variable gene expression. We focused on a set of expression variability QTL (evQTL)--i.e., genetic loci associated with the variance, as opposed to the mean, of gene expression. We identified evQTL for 99, 56, and 79 genes in lymphoblastoid cell lines, skin, and fat, respectively. The differences in gene expression, measured by the relative mean difference (RMD), tended to be larger between pairs of dizygotic (DZ) twins than between pairs of monozygotic (MZ) twins, showing that genetic background influenced the expression variability. Furthermore, a more profound RMD was observed between pairs of MZ twins whose genotypes were associated with greater expression variability than the RMD found between pairs of MZ twins whose genotypes were associated with smaller expression variability. This suggests that nongenetic (e.g., environmental) factors contribute to the variable expression. Lastly, we demonstrated that the formation of evQTL is likely due to partial linkages between eQTL SNPs that are additively associated with the mean of gene expression; in most cases, no epistatic effect is involved. Our findings have implications for understanding divergent sources of gene expression variability." @default.
• W2113691246 created "2016-06-24" @default.
• W2113691246 creator A5053596024 @default.
• W2113691246 creator A5054039415 @default.
• W2113691246 creator A5059360459 @default.
• W2113691246 creator A5083924807 @default.
• W2113691246 date "2014-02-01" @default.
• W2113691246 modified "2023-09-24" @default.
• W2113691246 title "Additive, Epistatic, and Environmental Effects Through the Lens of Expression Variability QTL in a Twin Cohort" @default.
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• W2113691246 doi "https://doi.org/10.1534/genetics.113.157503" @default.
• W2113691246 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3914615" @default.
• W2113691246 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24298061" @default.
• W2113691246 hasPublicationYear "2014" @default.
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