5 results
Characterisation of age and polarity at onset in bipolar disorder
- Janos L. Kalman, Loes M. Olde Loohuis, Annabel Vreeker, Andrew McQuillin, Eli A. Stahl, Douglas Ruderfer, Maria Grigoroiu-Serbanescu, Georgia Panagiotaropoulou, Stephan Ripke, Tim B. Bigdeli, Frederike Stein, Tina Meller, Susanne Meinert, Helena Pelin, Fabian Streit, Sergi Papiol, Mark J. Adams, Rolf Adolfsson, Kristina Adorjan, Ingrid Agartz, Sofie R. Aminoff, Heike Anderson-Schmidt, Ole A. Andreassen, Raffaella Ardau, Jean-Michel Aubry, Ceylan Balaban, Nicholas Bass, Bernhard T. Baune, Frank Bellivier, Antoni Benabarre, Susanne Bengesser, Wade H Berrettini, Marco P. Boks, Evelyn J. Bromet, Katharina Brosch, Monika Budde, William Byerley, Pablo Cervantes, Catina Chillotti, Sven Cichon, Scott R. Clark, Ashley L. Comes, Aiden Corvin, William Coryell, Nick Craddock, David W. Craig, Paul E. Croarkin, Cristiana Cruceanu, Piotr M. Czerski, Nina Dalkner, Udo Dannlowski, Franziska Degenhardt, Maria Del Zompo, J. Raymond DePaulo, Srdjan Djurovic, Howard J. Edenberg, Mariam Al Eissa, Torbjørn Elvsåshagen, Bruno Etain, Ayman H. Fanous, Frederike Fellendorf, Alessia Fiorentino, Andreas J. Forstner, Mark A. Frye, Janice M. Fullerton, Katrin Gade, Julie Garnham, Elliot Gershon, Michael Gill, Fernando S. Goes, Katherine Gordon-Smith, Paul Grof, Jose Guzman-Parra, Tim Hahn, Roland Hasler, Maria Heilbronner, Urs Heilbronner, Stephane Jamain, Esther Jimenez, Ian Jones, Lisa Jones, Lina Jonsson, Rene S. Kahn, John R. Kelsoe, James L. Kennedy, Tilo Kircher, George Kirov, Sarah Kittel-Schneider, Farah Klöhn-Saghatolislam, James A. Knowles, Thorsten M. Kranz, Trine Vik Lagerberg, Mikael Landen, William B. Lawson, Marion Leboyer, Qingqin S. Li, Mario Maj, Dolores Malaspina, Mirko Manchia, Fermin Mayoral, Susan L. McElroy, Melvin G. McInnis, Andrew M. McIntosh, Helena Medeiros, Ingrid Melle, Vihra Milanova, Philip B. Mitchell, Palmiero Monteleone, Alessio Maria Monteleone, Markus M. Nöthen, Tomas Novak, John I. Nurnberger, Niamh O'Brien, Kevin S. O'Connell, Claire O'Donovan, Michael C. O'Donovan, Nils Opel, Abigail Ortiz, Michael J. Owen, Erik Pålsson, Carlos Pato, Michele T. Pato, Joanna Pawlak, Julia-Katharina Pfarr, Claudia Pisanu, James B. Potash, Mark H Rapaport, Daniela Reich-Erkelenz, Andreas Reif, Eva Reininghaus, Jonathan Repple, Hélène Richard-Lepouriel, Marcella Rietschel, Kai Ringwald, Gloria Roberts, Guy Rouleau, Sabrina Schaupp, William A Scheftner, Simon Schmitt, Peter R. Schofield, K. Oliver Schubert, Eva C. Schulte, Barbara Schweizer, Fanny Senner, Giovanni Severino, Sally Sharp, Claire Slaney, Olav B. Smeland, Janet L. Sobell, Alessio Squassina, Pavla Stopkova, John Strauss, Alfonso Tortorella, Gustavo Turecki, Joanna Twarowska-Hauser, Marin Veldic, Eduard Vieta, John B. Vincent, Wei Xu, Clement C. Zai, Peter P. Zandi, Psychiatric Genomics Consortium (PGC) Bipolar Disorder Working Group, International Consortium on Lithium Genetics (ConLiGen), Colombia-US Cross Disorder Collaboration in Psychiatric Genetics, Arianna Di Florio, Jordan W. Smoller, Joanna M. Biernacka, Francis J. McMahon, Martin Alda, Bertram Müller-Myhsok, Nikolaos Koutsouleris, Peter Falkai, Nelson B. Freimer, Till F.M. Andlauer, Thomas G. Schulze, Roel A. Ophoff
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- Journal:
- The British Journal of Psychiatry / Volume 219 / Issue 6 / December 2021
- Published online by Cambridge University Press:
- 25 August 2021, pp. 659-669
- Print publication:
- December 2021
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Background
Studying phenotypic and genetic characteristics of age at onset (AAO) and polarity at onset (PAO) in bipolar disorder can provide new insights into disease pathology and facilitate the development of screening tools.
AimsTo examine the genetic architecture of AAO and PAO and their association with bipolar disorder disease characteristics.
MethodGenome-wide association studies (GWASs) and polygenic score (PGS) analyses of AAO (n = 12 977) and PAO (n = 6773) were conducted in patients with bipolar disorder from 34 cohorts and a replication sample (n = 2237). The association of onset with disease characteristics was investigated in two of these cohorts.
ResultsEarlier AAO was associated with a higher probability of psychotic symptoms, suicidality, lower educational attainment, not living together and fewer episodes. Depressive onset correlated with suicidality and manic onset correlated with delusions and manic episodes. Systematic differences in AAO between cohorts and continents of origin were observed. This was also reflected in single-nucleotide variant-based heritability estimates, with higher heritabilities for stricter onset definitions. Increased PGS for autism spectrum disorder (β = −0.34 years, s.e. = 0.08), major depression (β = −0.34 years, s.e. = 0.08), schizophrenia (β = −0.39 years, s.e. = 0.08), and educational attainment (β = −0.31 years, s.e. = 0.08) were associated with an earlier AAO. The AAO GWAS identified one significant locus, but this finding did not replicate. Neither GWAS nor PGS analyses yielded significant associations with PAO.
ConclusionsAAO and PAO are associated with indicators of bipolar disorder severity. Individuals with an earlier onset show an increased polygenic liability for a broad spectrum of psychiatric traits. Systematic differences in AAO across cohorts, continents and phenotype definitions introduce significant heterogeneity, affecting analyses.
Exploring the Role of Phosphate Structural Distortions on the Sodium Jump Dynamics in NASICON Phases
- Todd M. Alam, Nelson Bell, Jill Wheeler, Erik D. Spoerke, Randall T. Cygan, David Ingersoll
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- Journal:
- MRS Online Proceedings Library Archive / Volume 1773 / 2015
- Published online by Cambridge University Press:
- 01 June 2015, pp. 1-6
- Print publication:
- 2015
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High temperature solid state sodium (23Na) magic angle spinning (MAS) NMR spin lattice relaxation times (T1) were evaluated for a series of NASICON (Na3Zr2PSi2O12) materials to directly determine Na jump rates. Simulations of the T1 temperature variations that incorporated distributions in Na jump activation energies, or distribution of jump rates, improved the agreement with experiment. The 23Na NMR T1 relaxation results revealed that distributions in the Na dynamics were present for all of the NASICON materials investigated here. The 23Na relaxation experiments also showed that small differences in material composition and/or changes in the processing conditions impacted the distributions in the Na dynamics. The extent of the distribution was related to the presence of a disordered or glassy phosphate phase present in these different sol-gel processed materials. The 23Na NMR T1 relaxation experiments are a powerful tool to directly probing Na jump dynamics and provide additional molecular level details that could impact transport phenomena.
Twins, Tissue, and Time: An Assessment of SNPs and CNVs
- Paul Scheet, Erik A. Ehli, Xiangjun Xiao, Catharina E. M. van Beijsterveldt, Abdel Abdellaoui, Robert R. Althoff, Jouke Jan Hottenga, Gonneke Willemsen, Kelly A. Nelson, Patricia E. Huizenga, Yueshan Hu, Christopher I. Amos, Meike Bartels, Maria M Groen-Blokhuis, Eco JC de Geus, James J. Hudziak, Gareth E. Davies, Dorret I. Boomsma
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- Journal:
- Twin Research and Human Genetics / Volume 15 / Issue 6 / December 2012
- Published online by Cambridge University Press:
- 28 September 2012, pp. 737-745
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With the desire to assess genetic variation across the lifespan in large-scale collaborative projects, one question is whether inference of copy number (CN) is sensitive to the source of material for deoxyribonucleic acid (DNA) analysis (e.g., blood and buccal) and another question is whether CN is stable as individuals age. Here, we address these questions by applying Affymetrix 6.0 single nucleotide polymorphism (SNP) micro-arrays to 1,472 DNA samples from 710 individuals from the Netherlands Twin Register, including twin and non-twin individuals (372 with buccal and blood derived DNA and 388 with longitudinal data). Similar concordance for CN and genotype inference between samples from the same individual [or from the monozygotic (MZ) co-twins] was found for blood and buccal tissues. There was a small but statistically significant decrease in across-tissue concordance compared with concordance of samples from the same tissue type. No temporal effect was seen on CN variation from the 388 individuals sampled at two time points ranging from 1 to 12 years apart. The majority of our individuals were sampled at age younger than 20 years. Genotype concordance was very high (R2 > 99%) between co-twins from 43 MZ pairs. For 75 dizygotic (DZ) pairs, R2 was ≈65%. CN estimates were highly consistent between co-twins from MZ pairs for both deletions (R2 ≈ 90%) and duplications (R2 ≈ 86%). For DZ, these were similar for within-individual comparisons, but naturally lower between co-twins (R2 ≈ 50–60%). These results suggest that DNA from buccal samples perform as well as DNA from blood samples on the current generation of micro-array technologies.
18 - Conserving species in a working landscape: land use with biological and economic objectives
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- By Steve Polasky, Fesler-Lampert Professor of Ecological & Environmental Economics Department of Applied Economics, University of Minnesota, USA, Erik Nelson, PhD Candidate Department of Applied Economics, University of Minnesota, USA, Eric Lonsdorf, Research Associate Lincoln Park Zoo, Alexander Center for Applied Population Biology, Chicago, USA, Paul Fackler, Associate Professor Department of Agricultural and Resource Economics, North Carolina State University, Anthony Starfield, Professor Department of Ecology, Evolution and Behavior, University of Minnesota, USA
- Edited by Andreas Kontoleon, University of Cambridge, Unai Pascual, University of Cambridge, Timothy Swanson, University College London
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- Book:
- Biodiversity Economics
- Published online:
- 11 August 2009
- Print publication:
- 13 December 2007, pp 501-530
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Summary
Introduction
Loss of habitat is perhaps the single largest factor causing the decline of biodiversity (e.g. Wilson 1988; Wilcove et al. 2000). The widespread conversion of natural habitat to human-dominated land uses has left smaller and more isolated islands of natural habitat in a growing sea of agriculture, pasture, managed forests and urbanised areas. About half of the earth's useable land is devoted to pastoral or intensive agriculture (Tilman et al. 2001). Other lands are managed forests or are developed for housing or industrial use. In response, conservation biologists have called for the establishment of a system of formal protected areas to preserve key remnants of remaining natural habitat.
While formal protected areas play a vital role, many conservation biologists and ecologists recognise the need for conservation beyond the boundaries of protected areas (e.g. Franklin 1993; Hansen et al. 1993; Miller 1996; Reid 1996; Wear et al. 1996; Chapin III et al. 1998; Daily et al. 2001; Rosenzweig 2003). Nearly 90 per cent of land across the globe lies outside formal protected areas (IUCN categories I–VI, see WRI 2003), and protected status may arise on lands for reasons other than biodiversity conservation, such as aesthetics or low economic values (Pressey 1994; UNDP et al. 2000; Scott et al. 2001). For these reasons, the consequences of land use and land management decisions in working landscapes outside protected areas are vital.
Local Structure and Vibrational Properties of α-Pu, α-U, and the α-U Charge Density Wave
- Erik J. Nelson, Patrick Allen, Kerri J. Blobaum, Mark A. Wall, Corwin H. Booth
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- Journal:
- MRS Online Proceedings Library Archive / Volume 893 / 2005
- Published online by Cambridge University Press:
- 26 February 2011, 0893-JJ03-09
- Print publication:
- 2005
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The local atomic environment and vibrational properties of monoclinic α-Pu, orthorhombic α-U, and the α-U charge-density-wave (CDW) modulation are examined by extended x-ray absorption fine structure spectroscopy (EXAFS). Debye-Waller factors from temperature-dependent EXAFS measurements are fit to a correlated Debye model. The observed Pu-Pu bond Debye temperature is θcD(α-Pu) = 162 ± 5 K for the pure α-Pu phase. The temperature dependence of the U-U nearest neighbor and second nearest neighbor Debye-Waller factors exhibits a sharp discontinuity in slope near TCDW = 43 K, the transition temperature at which the charge-density wave (CDW) in α-U occurs. Our measurement of the CDW using EXAFS is the first observation of the structure of the CDW in polycrystalline α-U.