163 research outputs found

    Functional gene group analysis indicates no role for heterotrimeric G proteins in cognitive ability

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    Previous functional gene group analyses implicated common single nucleotide polymorphisms (SNPs) in heterotrimeric G protein coding genes as being associated with differences in human intelligence. Here, we sought to replicate this finding using five independent cohorts of older adults including current IQ and childhood IQ, and using both gene- and SNP-based analytic strategies. No significant associations were found between variation in heterotrimeric G protein genes and intelligence in any cohort at either of the two time points. These results indicate that, whereas G protein systems are important in cognition, common genetic variation in these genes is unlikely to be a substantial influence on human intelligence differences

    Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts

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    Genetic influences have an important role in the ageing process. The genetic factors that influence success in bodily ageing may also contribute to the successful ageing of cognitive abilities. A comparative genomics approach found longevity genes conserved between yeast Saccharomyces cerevisiae and nematode Caenorhabditis elegans. We hypothesised that these longevity genes influence variance in cognitive ability and age-related cognitive decline in humans. Here, we investigated six of these genes that have human orthologs and show expression in the brain. We tested AFG3L2 (MIM: 604581, AFG3 ATPase family gene 3-like 2 (yeast)), FRAP1 (MIM: 601231, a FK506 binding protein 12-rapamycin associated protein), MAT1A, MAT2A (MIM: 610550 and 601468, methionine adenosyltransferases I alpha and II alpha, respectively), SYNJ1 and SYNJ2 (MIM: 604297 and 609410, synaptojanin-1 and synaptojanin-2, respectively) in approximately 1000 healthy older Scots: the Lothian Birth Cohort 1936 (LBC1936). They were tested on general cognitive ability at age 11 years. At a mean age of 70 years, they re-sat the same general cognitive ability test and underwent an additional battery of diverse cognitive tests. In all, 70 tag and functional SNPs in the six longevity genes were genotyped and tested for association with cognition and cognitive ageing in LBC1936. Suggestive associations were detected between SNPs in SYNJ2, MAT1A, AFG3L2 and SYNJ1 and a general memory factor and general cognitive ability at age 11 and 70 years. Replication studies for cognitive ability associations were performed in 2506 samples from the Cognitive Ageing Genetics in England and Scotland consortium. A meta-analysis replicated the SYNJ2 association with cognitive abilities (lowest P=0.00077). SYNJ2 is a novel gene in which variation is potentially associated with cognitive abilities

    Single nucleotide polymorphisms associated with reading ability show connection to socio-economic outcomes

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    Impairments in reading and in language have negative consequences on life outcomes, but it is not known to what extent genetic effects influence this association. We constructed polygenic scores for difficulties with language and learning to read from genome-wide data in ~6,600 children, adolescents and young adults, and tested their association with health, socioeconomic outcomes and brain structure measures collected in adults (maximal N = 111,749). Polygenic risk of reading difficulties was associated with reduced income, educational attainment, self-rated health and verbal-numerical reasoning (p

    Effects of antiplatelet therapy on stroke risk by brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases: subgroup analyses of the RESTART randomised, open-label trial

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    Background Findings from the RESTART trial suggest that starting antiplatelet therapy might reduce the risk of recurrent symptomatic intracerebral haemorrhage compared with avoiding antiplatelet therapy. Brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases (such as cerebral microbleeds) are associated with greater risks of recurrent intracerebral haemorrhage. We did subgroup analyses of the RESTART trial to explore whether these brain imaging features modify the effects of antiplatelet therapy

    Functioning of Coastal River-Dominated Ecosystems and Implications for Oil Spill Response: From Observations to Mechanisms and Models

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    Coastal river-dominated oceans are physically complex, biologically productive, and intimately connected to human socioeconomic activity. The Deepwater Horizon blowout and subsequent advection of oil into coastal waters of the northern Gulf of Mexico (nGOM) highlighted the complex linkages among oceanographic processes within this river-dominated system and knowledge gaps about it that resulted in imprecise information on both oil transport and ecosystem consequences. The interdisciplinary research program implemented through the CONsortium for oil exposure pathways in COastal River-Dominated Ecosystems (CONCORDE) is designed to identify and quantitatively assess key physical, biological, and geochemical processes acting in the nGOM, in order to provide the foundation for implementation of a synthesis model (coupled circulation and biogeochemistry) of the nGOM shelf system that can ultimately aid in prediction of oil spill transport and impacts. CONCORDE field and modeling efforts in 2015–2016 focused on defining the influence of freshwater input from river plumes in the nGOM. In situ observations, combined with field-deployed and simulated drifters, show considerable variability in the spatial extent of freshwater influence that is related to wind direction and strength. Increased primary production and particle abundance (a proxy for secondary production) was observed during the spring when nGOM shelf waters were becoming stratified. Zooplankton and marine snow displayed intense vertical and horizontal patchiness during all seasons, often aggregating near the halocline. Simulations of a neutrally buoyant tracer released offshore of the Mississippi Bight showed surface advection of low tracer concentrations onto the inner shelf under high river discharge, high stratification, and variable wind conditions compared to almost no advection onto the inner shelf under low discharge, negligible stratification, and generally northeasterly winds. The interconnectedness of environmental variables and biological activity indicate that multiple factors can affect the transport of oil and the resulting ecological impacts. The process-oriented understanding provided by CONCORDE is necessary to predict ecosystem-level impacts of oil spills, and these results are applicable to other river-dominated coastal systems worldwide that often support oil extraction activities

    1 Personality Polygenes, Positive Affect, and Life Satisfaction

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    Approximately half of the variation in wellbeing measures overlaps with variation in personality traits. Studies of non-human primate pedigrees and human twins suggest that this is due to common genetic influences. We tested whether personality polygenic scores for the NEO Five-Factor Inventory (NEO-FFI) domains and for item response theory (IRT) derived extraversion and neuroticism scores predict variance in wellbeing measures. Polygenic scores were based on published genome-wide association (GWA) results in over 17,000 individuals for the NEO-FFI and in over 63,000 for the IRT extraversion and neuroticism traits. The NEO-FFI polygenic scores were used to predict life satisfaction in 7 cohorts, positive affect in 12 cohorts, and general wellbeing in 1 cohort (maximal N = 46,508). Meta-analysis of these results showed no significant association between NEO-FFI personality polygenic scores and the wellbeing measures. IRT extraversion and neuroticism polygenic scores were used to predict life satisfaction and positive affect in almost 37,000 individuals from UK Biobank. Significant positive associations (effect sizesPeer reviewe
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