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  • Gretarsdottir, Solveig, et al. (författare)
  • Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
  • 2010
  • Ingår i: Nature Genetics. - Nature Publishing Group. - 1546-1718. ; 42:8, s. 71-692
  • Tidskriftsartikel (refereegranskat)abstract
    • We performed a genome-wide association study on 1,292 individuals with abdominal aortic aneurysms (AAAs) and 30,503 controls from Iceland and The Netherlands, with a follow-up of top markers in up to 3,267 individuals with AAAs and 7,451 controls. The A allele of rs7025486 on 9q33 was found to associate with AAA, with an odds ratio (OR) of 1.21 and P = 4.6 x 10(-10). In tests for association with other vascular diseases, we found that rs7025486[A] is associated with early onset myocardial infarction (OR = 1.18, P = 3.1 x 10(-5)), peripheral arterial disease (OR = 1.14, P = 3.9 x 10(-5)) and pulmonary embolism (OR = 1.20, P = 0.00030), but not with intracranial aneurysm or ischemic stroke. No association was observed between rs7025486[A] and common risk factors for arterial and venous diseases-that is, smoking, lipid levels, obesity, type 2 diabetes and hypertension. Rs7025486 is located within DAB2IP, which encodes an inhibitor of cell growth and survival.
  • Gislason, S.R., et al. (författare)
  • Environmental pressure from the 2014-15 eruption of Bárðarbunga volcano, Iceland
  • 2015
  • Ingår i: Geochemical Perspectives Letters. - 2410-339X .- 2410-3403. ; 1:1, s. 84-93
  • Tidskriftsartikel (refereegranskat)abstract
    • The effusive six months long 2014-2015 Bároarbunga eruption (31 August-27 February) was the largest in Iceland for more than 200 years, producing 1.6 + 0.3 km3of lava. The total S02emission was 11 ± 5 Mt, more than the amount emitted from Europe in 2011. The ground level concentration of SO2exceeded the 350 μg m-3hourly average health limit over much of Iceland for days to weeks. Anomalously high SO2concentrations were also measured at several locations in Europe in September. The lowest pH of fresh snowmelt at the eruption site was 3.3, and 3.2 in precipitation 105 km away from the source. Elevated dissolved H2SO4, HCl, HF, and metal concentrations were measured in snow and precipitation. Environmental pressures from the eruption and impacts on populated areas were reduced by its remoteness, timing, and the weather. The anticipated primary environmental pressure is on the surface waters, soils, and vegetation of Iceland.
  • Walters, G. B., et al. (författare)
  • MAP1B mutations cause intellectual disability and extensive white matter deficit
  • 2018
  • Ingår i: Nature Communications. - 2041-1723. ; 9:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Wholegenome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large pedigree (genome-wide corrected P = 0.022). Additional stop-gain variants in MAP1B (E1032Ter and R1664Ter) validate the association with ID and IQ. Carriers have 24% less white matter (WM) volume (beta = -2.1SD, P = 5.1 x 10(-8)), 47% less corpus callosum (CC) volume (beta = -2.4SD, P = 5.5 x 10(-10)) and lower brain-wide fractional anisotropy (P = 6.7 x 10(-4)). In summary, we show that loss of MAP1B function affects general cognitive ability through a profound, brain-wide WM deficit with likely disordered or compromised axons.
  • Gunnarsson, Lena, et al. (författare)
  • The power of love : Towards an interdisciplinary and multi-theoretical feminist love studies
  • 2018
  • Ingår i: Feminism and the Power of Love : Interdisciplinary Interventions - Interdisciplinary Interventions : Interdisciplinary Interventions. - Routledge. - 9781138710054 - 9781351780131 ; s. 1-12
  • Bokkapitel (refereegranskat)abstract
    • Although love in some form is arguably as old as humankind, many scholars judge that it has never been as socially and existentially decisive as it is in contemporary western societies (Bauman 2003; Beck and Beck-Gernsheim 1995; Ferry 2013; Giddens 1992; Gunnarsson 2014a; Illouz 2012; Jónasdóttir 1994, 2011; Kaufmann 2011; Luhmann 1998; May 2011). The loosening of collective and role-based modes of recognition and existential security has meant that, to an increasing extent, love has become the most signi?cant source of people’s ‘ontological rootedness’ (May 2011) or ‘ontological security’ (Giddens 1992). For instance, while conceding that it seems to be a universal fact that love is a source of self-enhancement, Eva Illouz argues that ‘the sense of self-worth provided by love in modern relationships is of particular and acute importance, precisely because at stake in contemporary individualism is the dificulty to establish one’s self-worth and because the pressure for self-di?erentiation and developing a sense of uniqueness has considerably increased with modernity’ (2012: 112; cf. Beck and Beck-Gernsheim 1995; Gunnarsson 2014a; Gunnarsson 1994, 2011; Luhmann 1998). Luc Ferry goes as far as stating that the world is currently going through a ‘revolution of love’. When fewer and fewer believe in values like God, the Nation or the Revolution, the only thing in which basically everyone believes is love. Although love, as the new great principle of meaning against which to measure the ‘good life’, revolves around the private sphere, Ferry states that the revolution of love has repercussions for public and political life as well. For instance, he sees the ecological movement as premised on the historically recent phenomenon of parental love, forming the basis of a concern for the lives of future generations (Ferry 2013). The long-standing feminist insight that the personal is political has now reached into the core of male-stream theorizing. The increasing social signi?cance of love is a crucial theme also in Anna Jónasdóttir’s feminist theorization of contemporary western societies, which is more specifically focused on sexual love, understood as a ‘causal power in history’. In line with Illouz and others, she argues that under current social conditions, ‘when individuals are forced/free to make and remake themselves under continuously changing circumstances, love as a source of creative/re-creative human power seems to be needed more and more strongly’ (Jónasdóttir 2011: 50). She also addresses the historically specific relation between love and the economy (cf. Bryson 2011; Hochschild 2003; Illouz 2007, 2012), tentatively proposing that ‘capital is becoming more and more dependent on recreative (as distinct from procreative) love power; and on conditioning people to use and invest their energy [and love power] to serve, directly or indirectly, continued economic growth’ (Jónasdóttir 1994: 229). The growing de facto social signi?cance of love is likely to be one crucial factor behind the increasing academic interest in love, forming the new field of what Jónasdóttir terms ‘love studies’ (Jónasdóttir 2014). While love was long an embarrassing topic for scholars aiming to be taken seriously (Toye 2010) (with literary studies and parts of philosophy as exceptions), it is now commonplace as a male-stream topic of study in many di?erent disciplines, ranging from neuroscience to political science. Given that most people would rate love as one of life’s highest values and motivators (Ferguson and Jónasdóttir 2014), as witnessed by its topicality in music, literature and art, this growing academic interest in love is important because it helps bridge the gap between academic and lay inclinations, contributing to a deeper understanding of people’s behavior and, consequently, to social life as a whole (Sayer 2011). As part of the expanding general field of love studies, a revitalized subfield of feminist love studies has begun to take shape (Ferguson and Jónasdóttir 2014). It has done so only hesitantly though, despite the fact that love is generally thought of as a feminine realm. As Margaret Toye suggests, it is probably precisely because of love’s association with ‘the realm of women, the home, the private, the apolitical, the “not serious”’ that, struggling to be taken seriously, feminist theorists feel such a ‘nervousness around the topic’ (2010: 41). However, since the organization of love under patriarchy is strongly structured by gender, contributing to the subordination of women to men (de Beauvoir 1989; Dempsey 2002; Ferguson 1989, 1991, 2012; Firestone 1970; Gunnarsson 2011, 2014a, 2014b; Illouz 2012; Jackson 2014; Jónasdóttir 1994, 2009, 2011; Langford 1999; Thagaard 1997) and privileging heterosexual love over same-sex love (Butler 1990; Ferguson 1989, 1991; Jackson 2006; Rich 1980), it remains centrally important that feminist theorists take part in shaping the field of love studies. As part of the generally growing signi?cance of love in late modern societies, love also seems to be becoming an increasingly important arena of gender struggle (Jónasdóttir 2009). As a result of formal gender equality and the relative decline in women’s economic dependence on men, we have entered an era in which many middle and upper class women, above all but not exclusively in the West/North, remain bound to men only by the bonds of sexual attraction and love (Giddens 1992; Gunnarsson 2014a; Jónasdóttir 1994 [1991]). The implications of this have not been su?ciently explored by feminist theorists. What are the mechanisms of power internal to love? And what is it that motivates women to continue to attach themselves to men, even when this is not necessitated by economic and other constraints? In other words, what kind(s) of power is the power of love? And what di?erence does it make in and for feminist theory and politics? In the feminist work on love that does exist, especially as part of second wave feminism, the dominant way to explain women’s choice to attach themselves to men in the name of love, even when this implies subordination and the draining of women’s powers, has been by recourse to notions of patriarchal ideology or discourse. With some exceptions (e.g. Leon 1978; Sarachild 1978; Willis 1980), the recurrent theme of second wave feminist discourse on love was to conceive of heterosexual love as a delusion or false consciousness, ensuring that women continue to submit to men (Atkinson 1974; The Feminists 1973; Firestone 1970; see Douglas 1990, Jónasdóttir 2014, and Grossi this volume for overviews). As bell hooks puts forward, this feminist tendency to reduce love to a matter of patriarchal ideology has led to the alienation of most women from feminism. For hooks, to see love itself as the problem was a mistake of second wave feminists. ‘We were to do away with love and put in its place a concern with gaining rights and power’, she states, highlighting that this inhibited the development of a more complex feminist theorization of love. ‘Rather than rethinking love and insisting on its importance and value, feminist discourse on love simply stopped’ (2000: 102). Highlighting that the emergence of love studies as a new research field has so far been driven to a large extent by male mainstream theorists, Jónasdóttir echoes hook’s plea for more feminist inquiries into love. Since love is ‘one of the most vital, and dificult - not the least for women, matters to deal with in practical life and in theory, it should be particularly urgent for feminists to be (pro)active in this area’ (Jónasdóttir 2014: 25). Although ideological notions of compulsory heterosexual love, bound up with norms of femininity and masculinity, are of course immensely important as vehicles reproducing heterosexuality as a dominant system with associated gendered power relations, this book departs from tendencies of reducing love to ideology or discourse. A central assumption structuring the book is that although love is a crucial site of (in particular) gendered power asymmetries, it is also a vital source of human enhancement that we cannot, in its basic form, live without. Refraining from tendencies in much work on love to emphasize either love’s oppressive or enhancing qualities and implications (see Gunnarsson 2011, 2014a), the book puts the dualities, dynamics, and contradictions of love center stage, in the conviction that love’s indisputable power can be organized in both mutually enhancing and egalitarian and oppressive and exploitative ways. From a range of di?erent theoretical points of view, it aims to elucidate what makes love such a central value and motivator for people, thereby adding to the understanding of why love can keep people in its grip even when practiced in ways that deplete and oppress. In light of such analyses, ontological as well as historical and empirical, it also o?ers new perspectives on the conditions and characteristics of non-oppressive, mutually enhancing ways of loving.
  • Stacey, Simon N., et al. (författare)
  • Ancestry-Shift Refinement Mapping of the C6orf97-ESR1 Breast Cancer Susceptibility Locus
  • 2010
  • Ingår i: PLoS Genetics. - Public Library of Science. - 1553-7404. ; 6:7
  • Tidskriftsartikel (refereegranskat)abstract
    • We used an approach that we term ancestry-shift refinement mapping to investigate an association, originally discovered in a GWAS of a Chinese population, between rs2046210[T] and breast cancer susceptibility. The locus is on 6q25.1 in proximity to the C6orf97 and estrogen receptor alpha (ESR1) genes. We identified a panel of SNPs that are correlated with rs2046210 in Chinese, but not necessarily so in other ancestral populations, and genotyped them in breast cancer case: control samples of Asian, European, and African origin, a total of 10,176 cases and 13,286 controls. We found that rs2046210[T] does not confer substantial risk of breast cancer in Europeans and Africans (OR = 1.04, P = 0.099, and OR = 0.98, P = 0.77, respectively). Rather, in those ancestries, an association signal arises from a group of less common SNPs typified by rs9397435. The rs9397435[G] allele was found to confer risk of breast cancer in European (OR = 1.15, P = 1.2x10(-3)), African (OR = 1.35, P = 0.014), and Asian (OR = 1.23, P = 2.9x10(-4)) population samples. Combined over all ancestries, the OR was 1.19 (P = 3.9x10(-7)), was without significant heterogeneity between ancestries (P-het = 0.36) and the SNP fully accounted for the association signal in each ancestry. Haplotypes bearing rs9397435[G] are well tagged by rs2046210[ T] only in Asians. The rs9397435[G] allele showed associations with both estrogen receptor positive and estrogen receptor negative breast cancer. Using early-draft data from the 1,000 Genomes project, we found that the risk allele of a novel SNP (rs77275268), which is closely correlated with rs9397435, disrupts a partially methylated CpG sequence within a known CTCF binding site. These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping.
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