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- Haiman, Christopher A., et al.
(författare)
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A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:12, s. 61-1210
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Tidskriftsartikel (refereegranskat)abstract
- Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 x 10(-10)). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 x 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 x 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.
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- Helgadottir, Anna, et al.
(författare)
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Apolipoprotein(a) Genetic Sequence Variants Associated With Systemic Atherosclerosis and Coronary Atherosclerotic Burden But Not With Venous Thromboembolism
- 2012
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Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097 .- 1558-3597. ; 60:8, s. 722-729
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Tidskriftsartikel (refereegranskat)abstract
- Objectives The purpose of this study is investigate the effects of variants in the apolipoprotein(a) gene (LPA) on vascular diseases with different atherosclerotic and thrombotic components. Background It is unclear whether the LPA variants rs10455872 and rs3798220, which correlate with lipoprotein(a) levels and coronary artery disease (CAD), confer susceptibility predominantly via atherosclerosis or thrombosis. Methods The 2 LPA variants were combined and examined as LPA scores for the association with ischemic stroke (and TOAST [Trial of Org 10172 in Acute Stroke Treatment] subtypes) (effective sample size [n(e)] = 9,396); peripheral arterial disease (n(e) = 5,215); abdominal aortic aneurysm (ne = 4,572); venous thromboembolism (ne = 4,607); intracranial aneurysm (ne = 1,328); CAD (n(e) = 12,716), carotid intima-media thickness (n = 3,714), and angiographic CAD severity (n = 5,588). Results LPA score was associated with ischemic stroke subtype large artery atherosclerosis (odds ratio [OR]: 1.27; p = 6.7 X 10(-4)), peripheral artery disease (OR: 1.47; p = 2.9 x 10(-14)), and abdominal aortic aneurysm (OR: 1.23; p = 6.0 x 10(-5)), but not with the ischemic stroke subtypes cardioembolism (OR: 1.03; p = 0.69) or small vessel disease (OR: 1.06; p = 0.52). Although the LPA variants were not associated with carotid intima-media thickness, they were associated with the number of obstructed coronary vessels (p = 4.8 x 10(-12)). Furthermore, CAD cases carrying LPA risk variants had increased susceptibility to atherosclerotic manifestations outside of the coronary tree (OR: 1.26; p = 0.0010) and had earlier onset of CAD (-1.58 years/allele; p = 8.2 x 10(-8)) than CAD cases not carrying the risk variants. There was no association of LPA score with venous thromboembolism (OR: 0.97; p = 0.63) or intracranial aneurysm (OR: 0.85; p = 0.15). Conclusions LPA sequence variants were associated with atherosclerotic burden, but not with primarily thrombotic phenotypes. (J Am Coll Cardiol 2012; 60: 722-9) (C) 2012 by the American College of Cardiology Foundation
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- Kruitbos, L. M., et al.
(författare)
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Hydroclimatic and hydrochemical controls on Plecoptera diversity and distribution in northern freshwater ecosystems
- 2012
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Ingår i: Hydrobiologia. - : Springer Science and Business Media LLC. - 0018-8158 .- 1573-5117. ; 693:1, s. 39-53
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Tidskriftsartikel (refereegranskat)abstract
- Freshwater ecosystems in the mid- to upper-latitudes of the northern hemisphere are particularly vulnerable to the impact of climate change as slight changes in air temperature can alter the form, timing, and magnitude of precipitation and consequent influence of snowmelt on streamflow dynamics. Here, we examine the effects of hydro-climate, flow regime, and hydrochemistry on Plecoptera (stonefly) alpha (alpha) diversity and distribution in northern freshwater ecosystems. We characterized the hydroclimatic regime of seven catchments spanning a climatic gradient across the northern temperate region and compared them with estimates of Plecoptera genera richness. By a space-for-time substitution, we assessed how warmer temperatures and altered flow regimes may influence Plecoptera alpha diversity and composition at the genus level. Our results show wide hydroclimatic variability among sites, including differences in temporal streamflow dynamics and temperature response. Principal component analysis showed that Plecoptera genera richness was positively correlated with catchment relief (m), mean and median annual air temperature (A degrees C), and streamflow. These results provide a preliminary insight into how hydroclimatic change, particularly in terms of increased air temperature and altered streamflow regimes, may create future conditions more favorable to some Plecopteras in northern catchments.
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- Gretarsdottir, Solveig, et al.
(författare)
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Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:8, s. 71-692
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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.
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- Laudon, Hjalmar, et al.
(författare)
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Cross-regional prediction of long-term trajectory of stream water DOC response to climate change
- 2012
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Ingår i: Geophysical Research Letters. - : John Wiley & Sons. - 0094-8276 .- 1944-8007. ; 39
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Tidskriftsartikel (refereegranskat)abstract
- There is no scientific consensus about how dissolved organic carbon (DOC) in surface waters is regulated. Here we combine recent literature data from 49 catchments with detailed stream and catchment process information from nine well established research catchments at mid- to high latitudes to examine the question of how climate controls stream water DOC. We show for the first time that mean annual temperature (MAT) in the range from -3 degrees to +10 degrees C has a strong control over the regional stream water DOC concentration in catchments, with highest concentrations in areas ranging between 0 degrees and +3 degrees C MAT. Although relatively large deviations from this model occur for individual streams, catchment topography appears to explain much of this divergence. These findings suggest that the long-term trajectory of stream water DOC response to climate change may be more predictable than previously thought. Citation: Laudon, H., J. Buttle, S. K. Carey, J. McDonnell, K. McGuire, J. Seibert, J. Shanley, C. Soulsby, and D. Tetzlaff (2012), Cross-regional prediction of long-term trajectory of stream water DOC response to climate change, Geophys. Res. Lett., 39, L18404, doi: 10.1029/2012GL053033.
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- Bertilsson, Stefan, et al.
(författare)
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The under-ice microbiome of seasonally frozen lakes
- 2013
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Ingår i: Limnology and Oceanography. - : Wiley. - 0024-3590 .- 1939-5590. ; 58:6, s. 1998-2012
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Forskningsöversikt (refereegranskat)abstract
- Compared to the well-studied open water of the ‘‘growing’’ season, under-ice conditions in lakes are characterized by low and rather constant temperature, slow water movements, limited light availability, and reduced exchange with the surrounding landscape. These conditions interact with ice-cover duration to shape microbial processes in temperate lakes and ultimately influence the phenology of community and ecosystem processes. We review the current knowledge on microorganisms in seasonally frozen lakes. Specifically, we highlight how under-ice conditions alter lake physics and the ways that this can affect the distribution and metabolism of auto- and heterotrophic microorganisms. We identify functional traits that we hypothesize are important for understanding under-ice dynamics and discuss how these traits influence species interactions. As ice coverage duration has already been seen to reduce as air temperatures have warmed, the dynamics of the under- ice microbiome are important for understanding and predicting the dynamics and functioning of seasonally frozen lakes in the near future.
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