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- Escott-Price, Valentina, et al.
(author)
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Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
- 2014
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In: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:6, s. e94661-
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Journal article (peer-reviewed)abstract
- Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal Findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4x10(-6)) and 14 (IGHV1-67 p = 7.9x10(-8)) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
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| 2. |
- Heid, Iris M, et al.
(author)
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
- 2010
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 949-960
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Journal article (peer-reviewed)abstract
- Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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| 3. |
- Lindroth [formerly Tyrberg], Simon, 1979-
(author)
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Buoy and Generator Interaction with Ocean Waves : Studies of a Wave Energy Conversion System
- 2011
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Doctoral thesis (other academic/artistic)abstract
- On March 13th, 2006, the Division of Electricity at Uppsala University deployed its first wave energy converter, L1, in the ocean southwest of Lysekil. L1 consisted of a buoy at the surface, connected through a line to a linear generator on the seabed. Since the deployment, continuous investigations of how L1 works in the waves have been conducted, and several additional wave energy converters have been deployed. This thesis is based on ten publications, which focus on different aspects of the interaction between wave, buoy, and generator. In order to evaluate different measurement systems, the motion of the buoy was measured optically and using accelerometers, and compared to measurements of the motion of the movable part of the generator - the translator. These measurements were found to correlate well. Simulations of buoy and translator motion were found to match the measured values. The variation of performance of L1 with changing water levels, wave heights, and spectral shapes was also investigated. Performance is here defined as the ratio of absorbed power to incoming power. It was found that the performance decreases for large wave heights. This is in accordance with the theoretical predictions, since the area for which the stator and the translator overlap decreases for large translator motions. Shifting water levels were predicted to have the same effect, but this could not be seen as clearly. The width of the wave energy spectrum has been proposed by some as a factor that also affects the performance of a wave energy converter, for a set wave height and period. Therefore the relation between performance and several different parameters for spectral width was investigated. It was found that some of the parameters were in fact correlated to performance, but that the correlation was not very strong. As a background on ocean measurements in wave energy, a thorough literature review was conducted. It turns out that the Lysekil project is one of quite few projects that have published descriptions of on-site wave energy measurements.
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