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| 12. |
- Stacey, Simon N, et al.
(författare)
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A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:11, s. 1098-103
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Tidskriftsartikel (refereegranskat)abstract
- To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).
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| 13. |
- Thorleifsson, Gudmar, et al.
(författare)
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Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
- 2007
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 317:5843, s. 1397-1400
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Tidskriftsartikel (refereegranskat)abstract
- Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG.
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| 14. |
- Thorleifsson, Gudmar, et al.
(författare)
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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:10, s. 906-909
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Tidskriftsartikel (refereegranskat)abstract
- We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[ A], odds ratio (OR) = 1.36, P = 5.0 x 10(-10)). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.
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| 15. |
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| 16. |
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| 17. |
- Axelsson, Tobias, 1979-
(författare)
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När män möts som pappor : Fadrandets politik och praktik i det jämställda och pappavänliga Sverige
- 2019
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This thesis analyses how fathering is done and how fathers are constructed through the separate organising of men as fathers in meeting places for fathers on parental leave in Sweden. The study is located within the Swedish gender regime, characterised by its dual-earner/dual-carer model, progressive parenthood and daddy politics, and universally-oriented parenting support, making it a relatively gender-equal and father-friendly society.Theoretically and methodologically, the thesis draws on a feminist perspective. It uses ‘doing gender’ theory, and is informed by critical realism. The material is based on 25 observations at two fathering spaces, seven semi-structured interviews with fathers, and six policy documents on parenting support. Qualitative content analysis is used to analyse the material.The findings show: first, meeting places for fathers on parental leave can be understood as fathering spaces. Second, these fathering spaces are child-oriented settings and constitute somewhat of an exception within gender-neutral gender regimes. Third, fathering spaces function as transitional sites in which fathers manage different aspects of responsibility and relations to their own selves, to children, to mothers, and to other fathers. Fourth, three approaches to separate organising of men as fathers are identified: a) anti-separate; b) pro-separate; and c) gender paradoxical. The identified arguments for separate organising can be located along two parallel continua: one that stretches from individual to collective argumentation, and another that stretches from general to gender-specific argumentation.The thesis contributes to research on childcare and masculinities, and fathers’ experiences of parental leave, and to knowledge about separate organising of men as fathers. It also contributes to research and policy debates on daddy politics and parenting support by critically discussing fathering in terms of autonomy, dependence, and masculinity politics.
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| 18. |
- Bjørnholt, Margunn, 1958-
(författare)
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Modern men : A Norwegian 30-year longitudinal study of intergenerational transmission and social change
- 2014
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The dissertation addresses men and change, intergenerational transmission, historical change and agency, employing as a case a longitudinal follow-up study over two generations of men, where the fathers participated in an experimental research project, the Work-Sharing Couples Project, which aimed to promote egalitarian work–family adaptations in Norway in the early 1970s. The original project was based on both spouses working part-time and shift parenting. The summary presents a multidimensional analysis of the work–family adaptations of the two generations of men: the untraditional adaptation of fathers in the 1970s; and the neo-traditional adaptations of sons in the 2000s. Their different work–family adaptations are discussed as situated agency, taking into account different aspects of time and space, personal biography, discursive and material structures of opportunity, and intergenerational dynamics at the family level as well as at social level.The five articles present the empirical material: Bjørnholt (2009a) presents the impact on the couple relation and the family of the the parents’ work–sharing arrangement, concluding that the work-sharing arrangement was perceived by the participants to have been beneficial for their couple relationship as well as for the family as a whole. Bjørnholt (2011) explores the motivations of the work-sharing men to act as agents of change towards gender equality, concluding that personal biography, an authoritative way of being and new masculinity ideals, notably a partner- oriented masculinity, were important. Bjørnholt (2010b) analyses the consequences of the work-sharing arrangement on the work-sharing men’s careers, concluding that there were few negative career effects. They were rather successful, and their house-father experiences tended to be valued by employers as management skills. Bjørnholt (2009b) concludes that a father–son design is insufficient in explaining intergenerational transmission and Bjørnholt (2010c) finds that the untraditional work–family arrangement had not been passed on to sons.
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