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Sökning: WFRF:(Gruber Georg)

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  • [1]2Nästa
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1.
  • Adams, Hieab H. H., et al. (författare)
  • Novel genetic loci underlying human intracranial volume identified through genome-wide association
  • 2016
  • Ingår i: Nature Neuroscience. - 1097-6256 .- 1546-1726. ; 19:12, s. 1569-1582
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (rho(genetic) = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (N-combined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.</p>
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2.
  • Akerstedt, Torbjorn, et al. (författare)
  • Women with both sleep problems and snoring show objective impairment of sleep
  • 2018
  • Ingår i: Sleep Medicine. - 1389-9457 .- 1878-5506. ; 51, s. 80-84
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Objective: Combined insomnia and obstructive sleep apnea has been the focus of considerable research with respect to its health effects. A related issue is whether sleep disturbances in combination with snoring might exert effects on objective sleep variables in the non-clinical general population. The purpose of the present study was to investigate the polysomnographical characteristics of individuals who had sought medical help for both disturbed sleep and for snoring. No previous work of this type has been carried out. Method: For this study we used a representative set of data of 384 women with one night of in-home PSG. We identified those individuals who had sought medical help for sleep problems (SL), individuals that had sought help for snoring (SN), as well as those that had sought help for either both (Combined), or for neither (Control). Results: Our results yielded an N of 46, 16, 21, and 301 individuals, respectively. A one-factor analysis of variance showed significant main effects on N1% (F = 10.2, p &lt; 0.001), N3% (F = 2.7, p &lt; 0.05), AHI/h (F = 5.5, p &lt; 0.001), and a delta power measure (F = 3.8, p &lt; 0.05). The combined group showed significantly higher levels than the other groups for N1% (29% vs &lt; 21%), AHI/h (19/h vs &lt; 10/h) and lower levels for N3%, and a measure of delta power. Reported sleep quality measures did not show the same pattern, since the highest/lowest value were found for either the group presenting snoring alone or sleep problems alone. Conclusion: We concluded that individuals who had sought help for both insomnia and snoring showed impaired sleep in terms of PSG and that this was not reflected in ratings of sleep or health. This suggests that simultaneous sleep disturbances and snoring may potentiate each other to cause impaired sleep, yet the mechanism still needs to be elucidated.</p>
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4.
  • Hibar, Derrek P., et al. (författare)
  • Novel genetic loci associated with hippocampal volume
  • 2017
  • Ingår i: Nature Communications. - 2041-1723 .- 2041-1723. ; 8
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.</p>
5.
  • Hibar, Derrek P., et al. (författare)
  • Novel genetic loci associated with hippocampal volume
  • 2017
  • Ingår i: Nature Communications. - 2041-1723 .- 2041-1723. ; 8
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.</p>
6.
  • Payer, Stefan E., et al. (författare)
  • Regioselective para-Carboxylation of Catechols with a Prenylated Flavin Dependent Decarboxylase
  • 2017
  • Ingår i: Angewandte Chemie International Edition. - 1433-7851 .- 1521-3773. ; 56:44, s. 13893-13897
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>The utilization of CO2 as a carbon source for organic synthesis meets the urgent demand for more sustainability in the production of chemicals. Herein, we report on the enzyme-catalyzed para-carboxylation of catechols, employing 3,4-dihydroxybenzoic acid decarboxylases (AroY) that belong to the UbiD enzyme family. Crystal structures and accompanying solution data confirmed that AroY utilizes the recently discovered prenylated FMN (prFMN) cofactor, and requires oxidative maturation to form the catalytically competent prFMN(iminium) species. This study reports on the in vitro reconstitution and activation of a prFMN-dependent enzyme that is capable of directly carboxylating aromatic catechol substrates under ambient conditions. A reaction mechanism for the reversible decarboxylation involving an intermediate with a single covalent bond between a quinoid adduct and cofactor is proposed, which is distinct from the mechanism of prFMN-associated 1,3-dipolar cycloadditions in related enzymes.</p>
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7.
  • Phelan, Catherine M, et al. (författare)
  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
  • 2017
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 49:5, s. 680-691
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.</p>
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8.
  • Schwarz, Johanna F. A., et al. (författare)
  • Age affects sleep microstructure more than sleep macrostructure
  • 2017
  • Ingår i: Journal of Sleep Research. - 0962-1105 .- 1365-2869. ; 26:3, s. 277-287
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>It is well known that the quantity and quality of physiological sleep changes across age. However, so far the effect of age on sleep microstructure has been mostly addressed in small samples. The current study examines the effect of age on several measures of sleep macro- and microstructure in 211 women (22–71 years old) of the ‘Sleep and Health in Women’ study for whom ambulatory polysomnography was registered. Older age was associated with significantly lower fast spindle (effect size <em>f</em><sup>2</sup> = 0.32) and K-complex density (<em>f</em><sup>2</sup> = 0.19) during N2 sleep, as well as slow-wave activity (log) in N3 sleep (<em>f</em><sup>2</sup> = 0.21). Moreover, total sleep time (<em>f</em><sup>2</sup> = 0.10), N3 sleep (min) (<em>f</em><sup>2</sup> = 0.10), rapid eye movement sleep (min) (<em>f</em><sup>2</sup> = 0.11) and sigma (log) (<em>f</em><sup>2</sup> = 0.05) and slow-wave activity (log) during non-rapid eye movement sleep (<em>f</em><sup>2</sup> = 0.09) were reduced, and N1 sleep (<em>f</em><sup>2</sup> = 0.03) was increased in older age. No significant effects of age were observed on slow spindle density, rapid eye movement density and beta power (log) during non-rapid eye movement sleep. In conclusion, effect sizes indicate that traditional sleep stage scoring may underestimate age-related changes in sleep.</p>
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9.
  • Schwarz, Johanna F. A., et al. (författare)
  • Age affects sleep microstructure more than sleep macrostructure
  • 2017
  • Ingår i: Journal of Sleep Research. - 0962-1105 .- 1365-2869. ; 26:3, s. 277-287
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>It is well known that the quantity and quality of physiological sleep changes across age. However, so far the effect of age on sleep microstructure has been mostly addressed in small samples. The current study examines the effect of age on several measures of sleep macro- and microstructure in 211 women (22-71years old) of the Sleep and Health in Women' study for whom ambulatory polysomnography was registered. Older age was associated with significantly lower fast spindle (effect size f(2)=0.32) and K-complex density (f(2)=0.19) during N2 sleep, as well as slow-wave activity (log) in N3 sleep (f(2)=0.21). Moreover, total sleep time (f(2)=0.10), N3 sleep (min) (f(2)=0.10), rapid eye movement sleep (min) (f(2)=0.11) and sigma (log) (f(2)=0.05) and slow-wave activity (log) during non-rapid eye movement sleep (f(2)=0.09) were reduced, and N1 sleep (f(2)=0.03) was increased in older age. No significant effects of age were observed on slow spindle density, rapid eye movement density and beta power (log) during non-rapid eye movement sleep. In conclusion, effect sizes indicate that traditional sleep stage scoring may underestimate age-related changes in sleep.</p>
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10.
  • Thompson, Paul M., et al. (författare)
  • The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data
  • 2014
  • Ingår i: BRAIN IMAGING BEHAV. - 1931-7557. ; 8:2, s. 153-182
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.</p>
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