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- Docherty, Anna R, et al.
(författare)
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GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
- 2023
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Ingår i: The American journal of psychiatry. - : American Psychiatric Association Publishing. - 1535-7228 .- 0002-953X. ; 180:10, s. 723-738
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Tidskriftsartikel (refereegranskat)abstract
- Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present study leveraged the genetic cohorts from both studies to conduct the largest GWAS meta-analysis of SA to date. Multi-ancestry and admixture-specific meta-analyses were conducted within groups of significant African, East Asian, and European ancestry admixtures.This study comprised 22 cohorts, including 43,871 SA cases and 915,025 ancestry-matched controls. Analytical methods across multi-ancestry and individual ancestry admixtures included inverse variance-weighted fixed-effects meta-analyses, followed by gene, gene-set, tissue-set, and drug-target enrichment, as well as summary-data-based Mendelian randomization with brain expression quantitative trait loci data, phenome-wide genetic correlation, and genetic causal proportion analyses.Multi-ancestry and European ancestry admixture GWAS meta-analyses identified 12 risk loci at p values <5×10-8. These loci were mostly intergenic and implicated DRD2, SLC6A9, FURIN, NLGN1, SOX5, PDE4B, and CACNG2. The multi-ancestry SNP-based heritability estimate of SA was 5.7% on the liability scale (SE=0.003, p=5.7×10-80). Significant brain tissue gene expression and drug set enrichment were observed. There was shared genetic variation of SA with attention deficit hyperactivity disorder, smoking, and risk tolerance after conditioning SA on both major depressive disorder and posttraumatic stress disorder. Genetic causal proportion analyses implicated shared genetic risk for specific health factors.This multi-ancestry analysis of suicide attempt identified several loci contributing to risk and establishes significant shared genetic covariation with clinical phenotypes. These findings provide insight into genetic factors associated with suicide attempt across ancestry admixture populations, in veteran and civilian populations, and in attempt versus death.
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| 2. |
- Mullins, Niamh, et al.
(författare)
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Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors
- 2022
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Ingår i: Biological Psychiatry. - : Elsevier. - 0006-3223 .- 1873-2402. ; 91:3, s. 313-327
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders.METHODS: We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors.RESULTS: Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged.CONCLUSIONS: Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.
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| 4. |
- Kaufhold, Kathrin, et al.
(författare)
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Combining ESP and Academic Literacies approaches in a research-based writing course for anthropologists
- 2015
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Ingår i: Abstracts for PRISEAL 3.
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Konferensbidrag (refereegranskat)abstract
- Academic literacies and ESP-genre approaches to teaching writing tend to be considered as dichotomous: Academic literacies is associated with a critical stance, voice and an epistemological foundation rooted in ethnography. In contrast, the ESP-genre approach is more concerned with the socialisation of students into disciplinary communities and adopts primarily a text-oriented approach. Our study builds on Tribble & Wingate’s (2012, p. 481) theoretical conception a “best of both worlds” model of teaching academic writing. The first author’s research and teaching background is firmly rooted in ESP-genre theory, while the second author has worked primarily in the academic literacies tradition. We report the results of our collaboration in terms of designing and delivering a research-based writing workshop for post-graduate anthropology students at a Swedish university. The project evolved out of a sense that a predominantly ESP genre-based approach was not optimal in terms of preparing students for the demands of research-based writing in anthropology. In the workshop, students engaged in both text-analytical tasks and ethnographically-oriented activities such as developing an interview protocol, and conducting interviews with more experienced students in their field. The aim was to place equal emphasis on the wider practices associated with writing, both epistemological and social, as well as the rhetorical and linguistic characteristics of texts in the discipline. The efficacy of the course design was probed via focus group discussions with the course participants. This paper will discuss the challenges and opportunities encountered over the course of the project.
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| 5. |
- Kaufhold, Kathrin, et al.
(författare)
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Revisiting the role of ‘discipline’ in writing for publication in two social sciences
- 2019
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Ingår i: Journal of English for Academic Purposes. - : Elsevier BV. - 1475-1585 .- 1878-1497. ; 40, s. 115-128
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Tidskriftsartikel (refereegranskat)abstract
- The role of discipline in shaping writing for publication has been widely acknowledged in EAP research, and a wealth of studies that seek to characterise and differentiate disciplinary writing have been published. However, a conceptualisation of disciplines as clearly demarcated territories may be outdated given the “constantly changing and dynamic […] contemporary university” (Manathunga & Brew, 2014, p.45). In light of these changes, our article interrogates the centrality of discipline in research-based writing, from the academics' perspective. To do so, we adopt Trowler (2014a) reconceptualization of discipline as an analytical framework. Semi-structured interviews were conducted with seven scholars in two social sciences. Interview data was supplemented by an analysis of the participants' research-based outputs. The results highlight the contested nature of disciplinary affiliation and reveal the range of factors that participants perceive to be “shapers” of writing for publication, beyond discipline: epistemological/methodological, structural and individual. Based on the results, we argue that Trowler's new metaphor of discipline enables us to account for our findings, and conclude with recommendations for EAP writing for publication interventions.
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| 6. |
- Kuteeva, Maria, 1972-, et al.
(författare)
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Taming Tyrannosaurus rex : English use in the research and publication practices of humanities scholars in Sweden
- 2014
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Ingår i: Multilingua - Journal of Cross-cultural and Interlanguage Communication. - : Walter de Gruyter GmbH. - 0167-8507 .- 1613-3684. ; 33:3/4, s. 365-387
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Tidskriftsartikel (refereegranskat)abstract
- We investigate the current position of English in the language ecology8 of Swedish academia, with a special focus on the humanities. Semi-structured interviews with 15 informants from the fields of Anthropology, General Linguistics and History were carried out to explore how non-native speakers of English experience using academic English in their research. In contrast to other recent findings, our study shows that while some differences along disciplinary lines emerged, on the whole, English does not pose a significant challenge for scholars when writing for publication. Furthermore, our informants do not perceive themselves to be disadvantaged by their non-native status. The study casts some doubt on Swales’ well-known dinosaur metaphor; while English does in deed dominate in the sphere of international publication in terms of production, multilingual research practices are evident within the research and publication process.
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| 7. |
- Kuteeva, Maria, 1972-, et al.
(författare)
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The theoretical research article as a reflection of disciplinary practices : The case of pure mathematics
- 2015
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Ingår i: Applied Linguistics. - : Oxford University Press (OUP). - 0142-6001 .- 1477-450X. ; 36:2, s. 215-235
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Tidskriftsartikel (refereegranskat)abstract
- Recent years have seen an interest in the generic structure of empirical research articles across a variety of disciplines. However, significantly less attention has been given to theoretical articles. This study aims to begin to address this imbalance by presenting the results of an investigation into the organizational and rhetorical structure of theoretical pure mathematics research articles. The data set combines a close analysis of 22 peer-reviewed articles and semi-structured interviews with their authors. While there is considerable variation in terms of the major section headings and content, the results reveal an overall structure that differs from a typical empirical research article. We argue that this alternative structure is produced by the dual argumentation—mathematical and meta-mathematical—which runs throughout the text. Moreover, triangulation with the interview data indicates that the structural patterns of the theoretical pure mathematics research article can be viewed as a reflection of the research practices and epistemology of the discipline.
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