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Sökning: WFRF:(Dolenc Groselj L)

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  • van Rheenen, Wouter, et al. (författare)
  • Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
  • 2016
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:9, s. 1043-1048
  • Tidskriftsartikel (refereegranskat)abstract
    • To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.
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  • McDonnell, A. C., et al. (författare)
  • Effect of hypoxia and bedrest on peripheral vasoconstriction
  • 2013
  • Ingår i: Proceedings of Life in space for life on earth, 18-22 June 2012, Aberdeen. - : ESA Communications. - 9789290922704 ; , s. 1-2
  • Konferensbidrag (refereegranskat)abstract
    • Future planetary habitats may expose astronauts to both microgravity and hypobaric hypoxia, both inducing a reduction in peripheral perfusion. Peripheral temperature changes have been linked to sleep onset and quality [5]. However, it is still unknown what effect combining hypoxia and bedrest has on this relationship. Eleven male participants underwent three 10-day campaigns in a randomized manner: 1) normobaric hypoxic ambulatory confinement (HAmb); 2) normobaric hypoxic bed rest (HBR); 3) normobaric normoxic bed rest (NBR). There was no change in skin temperature gradient between the calf and toes, an index of peripheral perfusion (ΔTc-t), over the 10-d period in the HAmb trial. However, there was a significant increase (p< 0.001) in daytime (9am-9pm) ΔTc-t on day 10 of the inactivity/unloading periods (HBR and NBR trials). This reduction in the perfusion of the toes during the daytime was augmented during the HBR trial compared to NBR (p< 0.001). Before and on day 10 of the interventions we conducted polysomnographic assessment, which revealed no changes in sleep onset and/or architecture. These data support the theory that circadian changes in temperature are functionally linked to sleepiness [1].
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