| 1. |
- Lawrenson, Kate, et al.
(författare)
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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
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| 2. |
- de Bruin, Boudewijn, et al.
(författare)
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Philosophy of Money and Finance
- 2018
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Ingår i: Stanford Encyclopedia of Philosophy. - Stanford : Stanford University.
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 3. |
- de Bruin, Boudewijn, 1974, et al.
(författare)
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Philosophy of Money and Finance
- 2023
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Ingår i: Stanford Encyclopedia of Philosophy / Edward N. Zalta and Uri Nodelman (eds.). - Stanford : Metaphysics Research Lab, Stanford University.
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 4. |
- Gheaus, Anca, 1974-, et al.
(författare)
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The goods of work (other than money!)
- 2016
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Ingår i: Journal of social philosophy. - : Wiley-Blackwell. - 0047-2786 .- 1467-9833. ; 47:1, s. 70-89
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Tidskriftsartikel (refereegranskat)abstract
- The evaluation of labour markets and of particular jobs ought to be sensitive to a plurality of benefits and burdens of work. We use the term 'the goods of work' to refer to those benefits of work that cannot be obtained in exchange for money and that can be enjoyed mostly or exclusively in the context of work. Drawing on empirical research and various philosophical traditions of thinking about work we identify four goods of work: 1) attaining various types of excellence; 2) making a social contribution; 3) experiencing community; and 4) gaining social recognition. Our account of the goods of work can be read as unpacking the ways in which work can be meaningful. The distribution of the goods of work is a concern of justice for two conjoint reasons: First, they are part of the conception of the good of a large number of individuals. Second, in societies without an unconditional income and in which most people are not independently wealthy, paid work is non-optional and workers have few, if any, occasions to realize these goods outside their job. Taking into account the plurality of the goods of work and their importance for justice challenges the theoretical and political status quo, which focuses mostly on justice with regard to the distribution of income. We defend this account against the libertarian challenge that a free labour market gives individuals sufficient options to realise the goods of work important to them, and discuss the challenge from state neutrality. In the conclusion, we hint towards possible implications for today's labour markets.
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| 5. |
- Osorio, Ana, et al.
(författare)
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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
- 2014
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:4
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Tidskriftsartikel (refereegranskat)abstract
- Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7×10-3) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8×10-3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.
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| 6. |
- Sowerby, Leigh J., et al.
(författare)
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International registry of otolaryngologist–head and neck surgeons with COVID-19
- 2020
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Ingår i: International Forum of Allergy and Rhinology. - : Wiley. - 2042-6976 .- 2042-6984. ; 10:11, s. 1201-1208
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Tidskriftsartikel (refereegranskat)abstract
- Background: It has become clear that healthcare workers are at high risk, and otolaryngology has been theorized to be among the highest risk specialties for coronavirus disease 2019 (COVID-19). The purpose of this study was to detail the international impact of COVID-19 among otolaryngologists, and to identify instructional cases. Methods: Country representatives of the Young Otolaryngologists–International Federation of Otolaryngologic Societies (YO-IFOS) surveyed otolaryngologists through various channels. Nationwide surveys were distributed in 19 countries. The gray literature and social media channels were searched to identify reported deaths of otolaryngologists from COVID-19. Results: A total of 361 otolaryngologists were identified to have had COVID-19, and data for 325 surgeons was available for analysis. The age range was 25 to 84 years, with one-half under the age of 44 years. There were 24 deaths in the study period, with 83% over age 55 years. Source of infection was likely clinical activity in 175 (54%) cases. Prolonged exposure to a colleague was the source for 37 (11%) surgeons. Six instructional cases were identified where infections occurred during the performance of aerosol-generating operations (tracheostomy, mastoidectomy, epistaxis control, dacryocystorhinostomy, and translabyrinthine resection). In 3 of these cases, multiple operating room attendees were infected, and in 2, the surgeon succumbed to complications of COVID-19. Conclusion: The etiology of reported cases within the otolaryngology community appear to stem equally from clinical activity and community spread. Multiple procedures performed by otolaryngologists are aerosol-generating procedures (AGPs) and great care should be taken to protect the surgical team before, during, and after these operations.
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| 7. |
- Watson, Hunna J., et al.
(författare)
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Common Genetic Variation and Age of Onset of Anorexia Nervosa
- 2022
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Ingår i: BIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE. - : Elsevier BV. - 2667-1743. ; 2:4, s. 368-378
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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.
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