| 1. |
- Kattge, Jens, et al.
(författare)
-
TRY plant trait database - enhanced coverage and open access
- 2020
-
Ingår i: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
-
Tidskriftsartikel (refereegranskat)abstract
- Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
|
|
| 2. |
- Sawcer, Stephen, et al.
(författare)
-
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
- 2011
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 476:7359, s. 214-219
-
Tidskriftsartikel (refereegranskat)abstract
- Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
|
|
| 3. |
- Fresard, Laure, et al.
(författare)
-
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
-
Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
-
Tidskriftsartikel (refereegranskat)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
|
|
| 4. |
-
IMPROVER D2.2 Report of criteria for evaluating resilience
- 2016
-
Rapport (övrigt vetenskapligt/konstnärligt)abstract
- In the recent years, the focus has moved from critical infrastructure protection to that of resilience. But how do we know whether a critical infrastructure is resilient or not, how can it be evaluated, measured and enhanced? Drawing on, combining and developing the ideas of the existing literature and practices, the current report develops a holistic, easy-to-use and computable methodology to evaluate critical infrastructure resilience, called Critical Infrastructure Resilience Index (CIRI). The methodology is applicable to all types of critical infrastructure, including a possibility to tailor it to the specific needs of different sectors, facilities and hazard scenarios. The proposed methodology is especially suitable for organizational and technological resilience evaluation, but permits including also elements of societal resilience indicators to the evaluations. The methodology is based on four levels of hierarchically organized indicators. Level 1 consists of the phases well known from the so-called crisis management cycle. Under these phases, we find sets of Level 2 rather generic indicators. Thus under level 1 ‘Prevention’, for instance, we may find a Level 2 indicator such as ‘Resilient design’, further divided into Level 3 more detailed indicators such as ‘Physical robustness’, ‘Cyber robustness’, ‘Redundancy’, ‘Modularity’, and ‘Independency’. The task is to study these indicators on Level 4 in the context of concrete critical infrastructure facilities and hazard scenarios, that is, applying Level 3 indicators into concrete circumstances. The methodology then permits to transfer quantitative, semi-quantitative and qualitative evaluations of individual sector-specific resilience indicators into uniform metrics, based on process maturity levels. This in turn makes it possible to give a specific critical infrastructure, or its part, a resilience value on the scale 0-5. While the real resilience value becomes clear only when one engages in the analysis of several indicators, the methodology can be used also as a step-by-step measurement and development tool for resilience, without necessary immediately engaging in time-consuming total resilience analysis. The user of this methodology is supposed to be the operator of critical infrastructure, or part of it, in the spirit of self-auditing. In case it would be implemented in a wider scale, in cooperation between the operators and authorities, it would give the authorities a holistic picture about the respective society’s critical infrastructure resilience. In this report, we draw a concise picture of the methodology and illustrate how this methodology could be applied to a specific infrastructure and hazard scenario.
|
|
| 5. |
|
|
| 6. |
- Melkunaite, Laura
(författare)
-
IMPROVER Deliverable 1.1 International Survey
- 2016
-
Rapport (övrigt vetenskapligt/konstnärligt)abstract
- In recent years, the concept of resilience started to dominate strategic, operational as well as political domains of modern societies. Living in highly interconnected environment, where layers of infrastructures, people and economic interests interact creating both opportunities and vulnerabilities, different countries around the world turned towards resilience practices to reduce vulnerability of their critical infrastructures and societies. However, how can one implement resilience concepts without a comprehensive understanding of the concept itself? Focusing on the concept and practice of critical infrastructure resilience, this report provides a comprehensive overview of the existing scientific literature regarding the concept of resilience in general. It discusses the development of the concept of resilience and its application in societal, economic, ecological, organisational and critical infrastructure domains. The report provides an extensive discussion on the definition of resilience concepts, as well as information on scientific endeavours to implement and measure concepts of resilience. The report also contains detailed information on the definitions and implementation of the concepts of resilience in different continents, namely Europe, Africa, Asia, Oceania, North America and South America. Focusing on the concept of critical infrastructure resilience, it provides an overview of the existing official concepts of resilience, implementation tools, and general practices aimed at increasing organisational, societal, economic and technical resilience in different countries. To collect all the information, the IMPROVER consortium performed an extensive literature review on the use of resilience concepts. We also held a workshop with the associate partners, and conducted a set of personal interviews with critical infrastructure operators and resilience experts around the Europe. While conducting a number of case studies in different continents, we analysed existing region and state-level documents, and reports.
|
|
| 7. |
- Sen, Partha, et al.
(författare)
-
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
- 2013
-
Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 34:6, s. 801-811
-
Tidskriftsartikel (refereegranskat)abstract
- Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.
|
|
| 8. |
- Watson, Hunna J., et al.
(författare)
-
Common Genetic Variation and Age of Onset of Anorexia Nervosa
- 2022
-
Ingår i: BIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE. - : Elsevier BV. - 2667-1743. ; 2:4, s. 368-378
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Genetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche.METHODS: A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (,13 years), and typical-onset AN, and genetic correlation, genetic risk score, and Mendelian randomization analyses.RESULTS: Two loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (single nucleotide polymorphism-h2) were 0.01-0.04 for age of onset, 0.16-0.25 for early-onset AN, and 0.17-0.25 for typical-onset AN. Early-and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early -onset AN.CONCLUSIONS: Our results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction.
|
|
| 9. |
- Zuntini, Alexandre R., et al.
(författare)
-
Phylogenomics and the rise of the angiosperms
- 2024
-
Ingår i: NATURE. - 0028-0836 .- 1476-4687. ; 629, s. 843-850
-
Tidskriftsartikel (refereegranskat)abstract
- Angiosperms are the cornerstone of most terrestrial ecosystems and human livelihoods(1,2). A robust understanding of angiosperm evolution is required to explain their rise to ecological dominance. So far, the angiosperm tree of life has been determined primarily by means of analyses of the plastid genome(3,4). Many studies have drawn on this foundational work, such as classification and first insights into angiosperm diversification since their Mesozoic origins(5-7). However, the limited and biased sampling of both taxa and genomes undermines confidence in the tree and its implications. Here, we build the tree of life for almost 8,000 (about 60%) angiosperm genera using a standardized set of 353 nuclear genes(8). This 15-fold increase in genus-level sampling relative to comparable nuclear studies(9) provides a critical test of earlier results and brings notable change to key groups, especially in rosids, while substantiating many previously predicted relationships. Scaling this tree to time using 200 fossils, we discovered that early angiosperm evolution was characterized by high gene tree conflict and explosive diversification, giving rise to more than 80% of extant angiosperm orders. Steady diversification ensued through the remaining Mesozoic Era until rates resurged in the Cenozoic Era, concurrent with decreasing global temperatures and tightly linked with gene tree conflict. Taken together, our extensive sampling combined with advanced phylogenomic methods shows the deep history and full complexity in the evolution of a megadiverse clade.
|
|
| 10. |
-
- 2019
-
Tidskriftsartikel (refereegranskat)
|
|
| 11. |
- Aebersold, Ruedi, et al.
(författare)
-
How many human proteoforms are there?
- 2018
-
Ingår i: Nature Chemical Biology. - : NATURE PUBLISHING GROUP. - 1552-4450 .- 1552-4469. ; 14:3, s. 206-214
-
Tidskriftsartikel (refereegranskat)abstract
- Despite decades of accumulated knowledge about proteins and their post-translational modifications (PTMs), numerous questions remain regarding their molecular composition and biological function. One of the most fundamental queries is the extent to which the combinations of DNA-, RNA-and PTM-level variations explode the complexity of the human proteome. Here, we outline what we know from current databases and measurement strategies including mass spectrometry-based proteomics. In doing so, we examine prevailing notions about the number of modifications displayed on human proteins and how they combine to generate the protein diversity underlying health and disease. We frame central issues regarding determination of protein-level variation and PTMs, including some paradoxes present in the field today. We use this framework to assess existing data and to ask the question, "How many distinct primary structures of proteins (proteoforms) are created from the 20,300 human genes?" We also explore prospects for improving measurements to better regularize protein-level biology and efficiently associate PTMs to function and phenotype.
|
|
| 12. |
- Bainbridge, Wilma A., et al.
(författare)
-
Memorability of photographs in subjective cognitive decline and mild cognitive impairment : Implications for cognitive assessment
- 2019
-
Ingår i: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. - : Wiley. - 2352-8729. ; 11, s. 610-618
-
Tidskriftsartikel (refereegranskat)abstract
- Introduction: Impaired long-term memory is a defining feature of mild cognitive impairment (MCI). We tested whether this impairment is item specific, limited to some memoranda, whereas some remain consistently memorable. Methods: We conducted item-based analyses of long-term visual recognition memory. Three hundred ninety-four participants (healthy controls, subjective cognitive decline [SCD], and MCI) in the multicentric DZNE-Longitudinal Cognitive Impairment and Dementia Study (DELCODE) were tested with images from a pool of 835 photographs. Results: We observed consistent memorability for images in healthy controls, SCD, and MCI, predictable by a neural network trained on another healthy sample. Looking at memorability differences between groups, we identified images that could successfully categorize group membership with higher success and a substantial image reduction than the original image set. Discussion: Individuals with SCD and MCI show consistent memorability for specific items, while other items show significant diagnosticity. Certain stimulus features could optimize diagnostic assessment, while others could support memory.
|
|
| 13. |
- Baker, Jessica H., et al.
(författare)
-
Body Dissatisfaction in Adolescent Boys
- 2019
-
Ingår i: Developmental Psychology. - : American Psychological Association (APA). - 0012-1649 .- 1939-0599. ; 55:7, s. 1566-1578
-
Tidskriftsartikel (refereegranskat)abstract
- Body dissatisfaction is a significant mental health symptom present in adolescent girls and boys. However, it is often either disregarded in adolescent boys or examined using assessments that may not resonate with males. The present study addresses these issues, examining the manifestation, etiology, and correlates of 3 facets of body dissatisfaction in adolescent boys. Adolescent male twins aged 16- to 17-years-old from the Swedish Twin Study of Child and Adolescent Development were included along with a female comparison group: 915 monozygotic and 671 dizygotic same-sex twins. Body dissatisfaction was defined using measures of height dissatisfaction, muscle dissatisfaction, and the body dissatisfaction subscale of the Eating Disorder Inventory (EDI-BD). We examined the prevalence of body dissatisfaction, whether the facets of body dissatisfaction were phenotypically and etiologically distinct, and associations with specific externalizing and internalizing symptoms. For boys, muscle dissatisfaction scores were greater than height dissatisfaction scores. Results also indicated that height and muscle dissatisfaction were phenotypically and etiologically distinct from the EDI-BD. Unique associations were observed with externalizing and internalizing symptoms: muscle dissatisfaction with symptoms of bulimia nervosa and the EDI-BD with internalizing symptoms, body mass index, and drive for thinness. The facets of body dissatisfaction were also largely distinct in girls and unique between-sex associations with externalizing and internalizing symptoms emerged. Overall, male-oriented aspects of body dissatisfaction are distinct from female-oriented aspects of body dissatisfaction. To capture the full picture of male body dissatisfaction, multiple facets must be addressed.
|
|
| 14. |
- Baker, Laura A., et al.
(författare)
-
Antisocial behavior : gene-environment interplay
- 2012
-
Ingår i: Principles of psychiatric genetics. - Cambridge : Cambridge University Press. - 9780521896498 - 9781139025997 ; , s. 145-159
-
Bokkapitel (refereegranskat)
|
|
| 15. |
- Baker, Laura A., et al.
(författare)
-
Genetics and crime
- 2010
-
Ingår i: The SAGE handbook of criminological theory. - Los Angeles : Sage Publications. - 9781412920384 - 9781446200926 ; , s. 21-39
-
Bokkapitel (refereegranskat)
|
|
| 16. |
- Baker, Laura, et al.
(författare)
-
Resting heart rate and the development of antisocial behavior from age 9 to 14 : genetic and environmental influences
- 2009
-
Ingår i: Development and psychopathology (Print). - 0954-5794 .- 1469-2198. ; 21:3, s. 939-960
-
Tidskriftsartikel (refereegranskat)abstract
- The genetic and environmental basis of a well-replicated association between antisocial behavior (ASB) and resting heart rate was investigated in a longitudinal twin study, based on two measurements between the ages of 9 and 14 years. ASB was defined as a broad continuum of externalizing behavior problems, assessed at each occasion through a composite measure based on parent ratings of trait aggression, delinquent behaviors, and psychopathic traits in their children. Parent ratings of ASB significantly decreased across age from childhood to early adolescence, although latent growth models indicated significant variation and twin similarity in the growth patterns, which were explained almost entirely by genetic influences. Resting heart rate at age 9-10 years old was inversely related to levels of ASB but not change patterns of ASB across age or occasions. Biometrical analyses indicated significant genetic influences on heart rate during childhood, as well as ASB throughout development from age 9 to 14. Both level and slope variation were significantly influenced by genetic factors. Of importance, the low resting heart rate and ASB association was significantly and entirely explained by their genetic covariation, although the heritable component of heart rate explained only a small portion (1-4%) of the substantial genetic variance in ASB. Although the effect size is small, children with low resting heart rate appear to be genetically predisposed toward externalizing behavior problems as early as age 9 years old.
|
|
| 17. |
- Baker, Laura, et al.
(författare)
-
The genetic and environmental etiology of internalizing and externalizing behavior in adolescent twins
- 2011
-
Ingår i: Behavior Genetics. - : Springer Science and Business Media LLC. - 0001-8244 .- 1573-3297. ; 41:6, s. 927-927
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Comorbidity between internalizing (anxious, depressive) and externalizing (aggressive, delinquent) behavior is a well-established and common clinical reality throughout the lifespan, but perhaps becomes more significance in adolescence, when individuals are awarded more freedom. However, the genetic and environmental etiology of this comorbidity has rarely been examined in a behavioral genetic setting, especially during the period of adolescence. Additionally, research suggests that while caregivers may be more reliable reporters of externalizing behavior in youth, youth themselves are more reliable reporters of internalizing symptoms, raising the question of how different raters affect data patterns. Using the parent report Child Behavior Checklist (CBCL) as well as the youth report version (Youth Self Report—YSR), this research uses a twin study design to examine the etiology of coexisting internalizing and externalizing symptoms in mid adolescence (age 14–16 years) using a common pathway model that examined all data concurrently. Female comorbidity was accounted for by genetic and shared environmental influences, and male comorbidity by shared environmental influences, exclusively. Genetic influences emerged for all but self-report male externalizing behavior. Every scale showed unique influences as well, some of which were correlated between same-rater scales (e.g. parent report internalizing and externalizing), suggesting that some of the influences on covariation are rater-specific. These results contribute to our understanding of the nature of comorbid psychological disorders during adolescence, and suggest the importance of shared environment to the development of both internalizing and externalizing behavior
|
|
| 18. |
- Baker, Laura, et al.
(författare)
-
The Relationship between IQ and PM2.5 : Findings from the University of Southern California Twin Study
- 2016
-
Ingår i: Behavior Genetics. - : Springer. - 0001-8244 .- 1573-3297. ; 46:6, s. 772-773
-
Tidskriftsartikel (refereegranskat)abstract
- We examined the longitudinal relationship between IQ and fine particulate matter (\2.5lm aerodynamic diameters; PM2.5) exposure in urban-dwelling children, using prospective longitudinal data from the USC Twin Study of Risk Factors for Antisocial Behavior (RFAB; Baker et al. 2013). Residential addresses were collected via selfreports. Verbal and Performance IQ during childhood (age 9–10) and young adulthood (age 19–20) were evaluated by the Wechsler Abbreviated Intelligence Scale (Wechsler, 1999) using four subtests: VIQ=Vocabulary Similarities; PIQ=Block Design Matrices. Based on residential addresses and spatiotemporal generalized additive model of local monitoring data for PM2.5, we estimated 1-year average exposure before each assessment. A three-level mixed effects model regressing IQ scores at each assessment on time-varying air pollution exposures, accounting for both within-family (random intercepts) and within-individual (random slopes) was used. PM2.5 exposure had significant adverse effects on PIQ (95 % CI of b:-7.29 to-1.01, p\.05) but not VIQ (95 % CI of b:-4.50 to-1.96). Adverse effects of PM2.5 exposure remained significant after adjusting for age, family SES, sex, race/ethnicity, parental cognitive abilities, neighborhood SES, neighborhood quality and neighborhood greenness; the association was still significant after further adjusting for traffic distance (300 m), temperature, humidity and annual NOx. PM2.5 exposure confers stronger adverse effects on PIQ in low SES families, males, and during pre-adolescence. Our findings reveal social disparities and sexual dimorphism in the adverse PM2.5 exposure effects on PIQ. Baker, L., Tuvblad, C., Wang, P., Gomez, K., Bezdjian, S., Niv, S., & Raine, A. (2013). The Southern California Twin Register at the University of Southern California: III. Twin Research and Human Genetics, 16(1), 336–343; Wechsler, D. (1999). Wechsler Abbreviated Scale of Intelligence (WASI). San Antonio, Texas: Harcourt Assessment.
|
|
| 19. |
- Baker, Laura, et al.
(författare)
-
The Southern California twin register at the University of Southern California : III
- 2013
-
Ingår i: Twin Research and Human Genetics. - : Cambridge University Press (CUP). - 1832-4274 .- 1839-2628. ; 16:1, s. 336-343
-
Tidskriftsartikel (refereegranskat)abstract
- The Southern California Twin Register at the University of Southern California (USC) was initiated in 1984 and continues to provide an important resource for studies investigating genetic and environmental influences on human behavior. This article provides an update on the current register and its potential for future twin studies using recruitment through school district databases and voter records. An overview is also provided for an ongoing longitudinal twin study investigating the development of externalizing psychopathology from childhood to young adulthood, the USC Study of Risk Factors for Antisocial Behavior. Characteristics of the twins and their families are presented, including recruitment and participation rates, as well as attrition analyses and a summary of key findings to date.
|
|
| 20. |
- Beecham, Ashley H, et al.
(författare)
-
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
- 2013
-
Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60
-
Tidskriftsartikel (refereegranskat)abstract
- Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
|
|
| 21. |
- Bergantini, Laura, et al.
(författare)
-
ERS International Congress 2023 : highlights from the Airway Diseases Assembly
- 2024
-
Ingår i: ERJ open research. - 2312-0541. ; 10:2
-
Tidskriftsartikel (refereegranskat)abstract
- In this review, early career and senior members of Assembly 5 (Airway Diseases, Asthma, COPD and Chronic Cough) present key recent findings pertinent to airway diseases that were presented during the European Respiratory Society International Congress 2023 in Milan, Italy, with a particular focus on asthma, COPD, chronic cough and bronchiectasis. During the congress, an increased number of symposia, workshops and abstract presentations were organised. In total, 739 abstracts were submitted for Assembly 5 and the majority of these were presented by early career members. These data highlight the increased interest in this group of respiratory diseases.
|
|
| 22. |
- Bertoldi, Bridget, et al.
(författare)
-
DISPOSITIONAL FACTORS ACCOUNTING FOR THE RELATIONSHIP BETWEEN LOW RESTING HEART RATE IN CHILDHOOD AND LATER ANTISOCIAL BEHAVIOR : A TRIARCHIC MODEL ANALYSIS USING LONGITUDINAL-STUDY DATA
- 2020
-
Ingår i: Psychophysiology. - : Wiley-Blackwell Publishing Inc.. - 0048-5772 .- 1469-8986. ; 57:S1, s. S76-S76
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- There has been a longstanding interest in autonomic activity in relation to criminal deviancy, antisocial behavior (ASB), and psychopathy. Among the autonomic measures studied to date, considerable evidence supports low rest-ing heart rate (HR) early in life as one of the most robust predictors of later ASB (Farrington, 1997). Some studies have examined stimulation seeking and fearlessness as possible trait factors accounting for the low HR/ASB rela-tionship (Hammerton et al., 2017; Portnoy et al., 2014; Sijstema et al., 2010), but the individual difference basis of this relationship remains unclear. The current study tested for associations of resting HR at ages 9–10 with triarchic psychopathy traits of boldness, meanness, and disinhibition along with ASB later in life (ages 19–20) among participants (N = 687) from a longitudinal investigation, the Risk Factors for Antisocial Behavior (RFAB; Baker et al., 2013) project. Resting HR was negatively associated with both violent and nonviolent behavior, and with externalizing problems more broadly. It was also related negatively to triarchic traits of boldness and disinhibition, with the relationship somewhat stronger for boldness. Importantly, boldness and disinhibition each accounted for significant variance in associations of low resting HR with particular types of ASB. Implications of these findings for our understanding of the nature and bases of the low HR–antisocial behavior relationship will be discussed.
|
|
| 23. |
- Bertoldi, Bridget M., et al.
(författare)
-
Pursuing the developmental aims of the triarchic model of psychopathy : Creation and validation of triarchic scales for use in the USC
- 2022
-
Ingår i: Development and psychopathology (Print). - : Cambridge University Press. - 0954-5794 .- 1469-2198. ; 34:3, s. 1088-1103
-
Tidskriftsartikel (refereegranskat)abstract
- The triarchic model was advanced as an integrative, trait-based framework for investigating psychopathy using different assessment methods and across developmental periods. Recent research has shown that the triarchic traits of boldness, meanness, and disinhibition can be operationalized effectively in youth, but longitudinal research is needed to realize the model's potential to advance developmental understanding of psychopathy. We report on the creation and validation of scale measures of the triarchic traits using questionnaire items available in the University of Southern California Risk Factors for Antisocial Behavior (RFAB) project, a large-scale longitudinal study of the development of antisocial behavior that includes measures from multiple modalities (self-report, informant rating, clinical-diagnostic, task-behavioral, physiological). Using a construct-rating and psychometric refinement approach, we developed triarchic scales that showed acceptable reliability, expected intercorrelations, and good temporal stability. The scales showed theory-consistent relations with external criteria including measures of psychopathy, internalizing/externalizing psychopathology, antisocial behavior, and substance use. Findings demonstrate the viability of measuring triarchic traits in the RFAB sample, extend the known nomological network of these traits into the developmental realm, and provide a foundation for follow-up studies examining the etiology of psychopathic traits and their relations with multimodal measures of cognitive-affective function and proneness to clinical problems.
|
|
| 24. |
- Bertoldi, Bridget M., et al.
(författare)
-
Relationship between resting heart rate and law enforcement involvement : The moderating role of socioeconomic status in a sample of urban youth
- 2022
-
Ingår i: Journal of criminal justice. - : Elsevier. - 0047-2352 .- 1873-6203. ; 82
-
Tidskriftsartikel (refereegranskat)abstract
- Purpose: Resting heart rate (RHR) is a well-established biological risk factor for criminal behavior. However, potential moderating effects of social risk factors like socioeconomic status on this relationship remain unclear. The current study sought to clarify the moderating impact of socioeconomic status on the relation between low RHR in childhood and adolescence and subsequent legal system involvement by young adulthood.Methods: A subset of twins and triplets from the Risk Factors for Antisocial Behavior (RFAB) project (N = 347) were utilized to test hypotheses. Logistic regression analyses were performed to test for a moderating effect of socioeconomic status on the relationship between RHR and later law enforcement involvement (trouble with police, arrest).Results: Resting HR and SES were individually associated with an increased likelihood of being in trouble with the police and being arrested. In addition, RHR and SES in adolescence interacted to predict trouble with the police and arrest history by young adulthood, such that low RHR predicted these outcomes among adolescents who remained in low SES backgrounds.Conclusions: Adolescents who remain in low socioeconomic backgrounds from childhood will be a particularly important group to target in terms of treatment efforts to prevent criminal behavior.
|
|
| 25. |
- Bertoldi, Bridget M., et al.
(författare)
-
Role of Triarchic Traits in Relations of Early Resting Heart Rate With Antisocial Behavior and Broad Psychopathology Dimensions in Later Life
- 2023
-
Ingår i: Clinical Psychological Science. - : Sage Publications. - 2167-7026 .- 2167-7034. ; 11:1, s. 90-105
-
Tidskriftsartikel (refereegranskat)abstract
- Low resting heart rate (HR) is a known risk indicator for the development of antisocial behavior (ASB) and other clinical problems. Stimulation seeking and fearlessness have been explored as factors underlying the HR/ASB relationship, but these have often been conflated, which has complicated interpretation. We examined HR's associations with ASB and other outcomes in terms of biobehavioral traits described by the triarchic model of psychopathy using data (N = 710) from a longitudinal study of ASB risk. Low resting HR in childhood was related to adult ASB, and covariance between ASB and traits of disinhibition and boldness largely accounted for this association. In addition, low childhood HR was related to greater externalizing problems and fewer internalizing problems in adulthood; disinhibition accounted for the former association, and boldness accounted for the latter. Findings indicate a role for both disinhibition and boldness in associations between early HR and later clinical outcomes and have implications for theory and practice.
|
|
