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Sökning: WFRF:(Gruber Georg) > (2019)

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1.
  • Satizabal, Claudia L., et al. (författare)
  • Genetic architecture of subcortical brain structures in 38,851 individuals
  • 2019
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:11, s. 1624-
  • Tidskriftsartikel (refereegranskat)abstract
    • Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.
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2.
  • Åkerstedt, Torbjorn, et al. (författare)
  • Short sleep-poor sleep? A polysomnographic study in a large population-based sample of women
  • 2019
  • Ingår i: Journal of Sleep Research. - : Wiley. - 0962-1105 .- 1365-2869. ; 28:4
  • Tidskriftsartikel (refereegranskat)abstract
    • There is a lack of studies on the association between total sleep time (TST) and other polysomnographical parameters. A key question is whether a short sleep is an expression of habitual short sleep, or whether it reflects temporary impairment. The purpose of the present study was to investigate the association between TST and amount of sleep stages and sleep continuity measures, in a large population-based sample of women (n = 385), sleeping at home in a normal daily life setting. The results show that sleep efficiency, N1 (min), N2 (min), REM (min), REM% and proportion of long sleep segments, increased with increasing TST, whereas the number of awakenings/hr, the number of arousals/hr, N1% and REM intensity decreased. In addition, longer sleep was more associated with TST being perceived as of usual duration and with better subjective sleep quality. TST was not associated with habitual reported sleep duration. It was concluded that short TST of a recorded sleep in a real-life context may be an indicator of poor objective sleep quality for that particular sleep episode. Because individuals clearly perceived this reduction, it appears that self-reports of poor sleep quality often may be seen as indicators of poor sleep quality. It is also concluded that PSG-recorded sleep duration does not reflect habitual reported sleep duration in the present real-life context.
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