University of Queensland

About: University of Queensland is a education organization based out in Brisbane, Queensland, Australia. It is known for research contribution in the topics: Population & Poison control. The organization has 51138 authors who have published 155721 publications receiving 5717659 citations. The organization is also known as: UQ & The University of Queensland.

Systematic identification of trans eQTLs as putative drivers of known disease associations

Abstract: Identifying the downstream effects of disease-associated SNPs is challenging. To help overcome this problem, we performed expression quantitative trait locus (eQTL) meta-analysis in non-transformed peripheral blood samples from 5,311 individuals with replication in 2,775 individuals. We identified and replicated trans eQTLs for 233 SNPs (reflecting 103 independent loci) that were previously associated with complex traits at genome-wide significance. Some of these SNPs affect multiple genes in trans that are known to be altered in individuals with disease: rs4917014, previously associated with systemic lupus erythematosus (SLE), altered gene expression of C1QB and five type I interferon response genes, both hallmarks of SLE. DeepSAGE RNA sequencing showed that rs4917014 strongly alters the 3' UTR levels of IKZF1 in cis, and chromatin immunoprecipitation and sequencing analysis of the trans-regulated genes implicated IKZF1 as the causal gene. Variants associated with cholesterol metabolism and type 1 diabetes showed similar phenomena, indicating that large-scale eQTL mapping provides insight into the downstream effects of many trait-associated variants.

The evolution of foresight: What is mental time travel, and is it unique to humans?

Abstract: In a dynamic world, mechanisms allowing prediction of future situations can provide a selective advantage. We suggest that memory systems differ in the degree of flexibility they offer for anticipatory behavior and put forward a corresponding taxonomy of prospection. The adaptive advantage of any memory system can only lie in what it contributes for future survival. The most flexible is episodic memory, which we suggest is part of a more general faculty of mental time travel that allows us not only to go back in time, but also to foresee, plan, and shape virtually any specific future event. We review comparative studies and find that, in spite of increased research in the area, there is as yet no convincing evidence for mental time travel in nonhuman animals. We submit that mental time travel is not an encapsulated cognitive system, but instead comprises several subsidiary mechanisms. A theater metaphor serves as an analogy for the kind of mechanisms required for effective mental time travel. We propose that future research should consider these mechanisms in addition to direct evidence of future-directed action. We maintain that the emergence of mental time travel in evolution was a crucial step towards our current success.

Meta-analysis of the heritability of human traits based on fifty years of twin studies

Abstract: Despite a century of research on complex traits in humans, the relative importance and specific nature of the influences of genes and environment on human traits remain controversial. We report a meta-analysis of twin correlations and reported variance components for 17,804 traits from 2,748 publications including 14,558,903 partly dependent twin pairs, virtually all published twin studies of complex traits. Estimates of heritability cluster strongly within functional domains, and across all traits the reported heritability is 49%. For a majority (69%) of traits, the observed twin correlations are consistent with a simple and parsimonious model where twin resemblance is solely due to additive genetic variation. The data are inconsistent with substantial influences from shared environment or non-additive genetic variation. This study provides the most comprehensive analysis of the causes of individual differences in human traits thus far and will guide future gene-mapping efforts. All the results can be visualized using the MaTCH webtool.