| 1. |
- Thorgeirsson, T. E., et al.
(författare)
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A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences
- 2016
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Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 21:5, s. 594-600
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Tidskriftsartikel (refereegranskat)abstract
- Using Icelandic whole-genome sequence data and an imputation approach we searched for rare sequence variants in CHRNA4 and tested them for association with nicotine dependence. We show that carriers of a rare missense variant (allele frequency = 0.24%) within CHRNA4, encoding an R336C substitution, have greater risk of nicotine addiction than non-carriers as assessed by the Fagerstrom Test for Nicotine Dependence (P = 1.2 x 10(-4)). The variant also confers risk of several serious smoking-related diseases previously shown to be associated with the D398N substitution in CHRNA5. We observed odds ratios (ORs) of 1.7-2.3 for lung cancer (LC; P = 4.0 x 10(-4)), chronic obstructive pulmonary disease (COPD; P = 9.3 x 10(-4)), peripheral artery disease (PAD; P = 0.090) and abdominal aortic aneurysms (AAAs; P = 0.12), and the variant associates strongly with the early-onset forms of LC (OR = 4.49, P = 2.2 x 10(-4)), COPD (OR = 3.22, P = 2.9 x 10(-4)), PAD (OR = 3.47, P = 9.2 x 10(-3)) and AAA (OR = 6.44, P = 6.3 x 10(-3)). Joint analysis of the four smoking-related diseases reveals significant association (P = 6.8 x 10(-5)), particularly for early-onset cases (P = 2.1 x 10(-7)). Our results are in agreement with functional studies showing that the human alpha 4 beta 2 isoform of the channel containing R336C has less sensitivity for its agonists than the wild-type form following nicotine incubation.
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| 3. |
- Saevarsdottir, KS, et al.
(författare)
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Illness severity and risk of mental morbidities among patients recovering from COVID-19: a cross-sectional study in the Icelandic population
- 2021
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 11:7, s. e049967-
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Tidskriftsartikel (refereegranskat)abstract
- To test if patients recovering from COVID-19 are at increased risk of mental morbidities and to what extent such risk is exacerbated by illness severity.DesignPopulation-based cross-sectional study.SettingIceland.ParticipantsA total of 22 861 individuals were recruited through invitations to existing nationwide cohorts and a social media campaign from 24 April to 22 July 2020, of which 373 were patients recovering from COVID-19.Main outcome measuresSymptoms of depression (Patient Health Questionnaire), anxiety (General Anxiety Disorder Scale) and posttraumatic stress disorder (PTSD; modified Primary Care PTSD Screen for DSM-5) above screening thresholds. Adjusting for multiple covariates and comorbidities, multivariable Poisson regression was used to assess the association between COVID-19 severity and mental morbidities.ResultsCompared with individuals without a diagnosis of COVID-19, patients recovering from COVID-19 had increased risk of depression (22.1% vs 16.2%; adjusted relative risk (aRR) 1.48, 95% CI 1.20 to 1.82) and PTSD (19.5% vs 15.6%; aRR 1.38, 95% CI 1.09 to 1.75) but not anxiety (13.1% vs 11.3%; aRR 1.24, 95% CI 0.93 to 1.64). Elevated relative risks were limited to patients recovering from COVID-19 that were 40 years or older and were particularly high among individuals with university education. Among patients recovering from COVID-19, symptoms of depression were particularly common among those in the highest, compared with the lowest tertile of influenza-like symptom burden (47.1% vs 5.8%; aRR 6.42, 95% CI 2.77 to 14.87), among patients confined to bed for 7 days or longer compared with those never confined to bed (33.3% vs 10.9%; aRR 3.67, 95% CI 1.97 to 6.86) and among patients hospitalised for COVID-19 compared with those never admitted to hospital (48.1% vs 19.9%; aRR 2.72, 95% CI 1.67 to 4.44).ConclusionsSevere disease course is associated with increased risk of depression and PTSD among patients recovering from COVID-19.
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| 5. |
- Hyppönen, Hannele, et al.
(författare)
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Nordic eHealth Indicators: Organisation of research, first results and plan for the future.
- 2013
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Ingår i: Medinfo 2013. - Netherländerna : IOS Press. - 9781614992882 ; , s. 273-277
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Konferensbidrag (refereegranskat)abstract
- eHealth indicator and benchmarking activities are rapidly increasing nationally and internationally. The work is rarely based on a transparent methodology for indicator definition. This article describes first results of testing an indicator methodology for defining eHealth indicators, which was reported at the Medical Informatics Europe conference in 2012. The core elements of the methodology are illustrated, demonstrating validation of each of them in the context of Nordic eHealth Indicator work. Validation proved the importance of conducting each of the steps of the methodology, with several scientific as well as practical outcomes. The article is based on a report to be published by the Nordic Council of Ministers.
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| 7. |
- Galeczka, Iwona, et al.
(författare)
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The effect of the 2002 glacial flood on dissolved and suspended chemical fluxes in the Skafta river, Iceland
- 2015
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Ingår i: Journal of Volcanology and Geothermal Research. - : Elsevier BV. - 0377-0273 .- 1872-6097. ; 301, s. 253-276
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Tidskriftsartikel (refereegranskat)abstract
- This study describes the chemical composition of dissolved, degased and suspended fluxes of the 2002 Skafta glacial flood, which emerged from one of the Skafta subglacial lake due to geothermal activity beneath the Icelandic Vatnajokull glacier. The dissolved and suspended fluxes during the flood are compared with those normally observed in the Skafta river to determine the effect of such floods on the annual fluxes of material delivered to the coastal waters. Concentrations of most dissolved elements during the flood were significantly higher than those normally observed in the Skafta river. In addition, dissolved concentrations of nutrients such as SiO2, Fe, and V, increased more than an order of magnitude during the flood. These will affect biological processes on a local scale. The delta S-34 composition in the flood water suggests that the dissolved SO4 was derived from the oxidation of H2S and the geothermal fluid. The total suspended particulate load measured in the Skafta river during the 8-day 2002 flood was approximately half of the non-flood total annual Skafta suspended load. As particles carry the bulk of limiting nutrients to the oceans, this demonstrates the importance of glacial floods for primary production of coastal waters. The composition of the flood water and the Skafta subglacial lake, together with reaction path modelling suggest that substantial degasing of CO2 and H2S occurred at the glacial outlet during the flood. This degasing may have released as much as 262,000 and 7,980 tonnes of CO2 and H2S, respectively, to the atmosphere having a considerable impact on the local carbon and sulphur cycles during the flood event.
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| 8. |
- Gislason, Sigurdur R., et al.
(författare)
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Direct evidence of the feedback between climate and weathering
- 2009
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Ingår i: Earth and Planetary Science Letters. - : Elsevier BV. - 0012-821X .- 1385-013X. ; 277:02-jan, s. 213-222
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Tidskriftsartikel (refereegranskat)abstract
- Long-term climate moderation is commonly attributed to chemical weathering; the higher the temperature and precipitation the faster the weathering rate. Weathering releases divalent cations to the ocean via riverine transport where they promote the drawdown of CO2 from the atmosphere by the precipitation and subsequent burial of carbonate minerals. To test this widely-held hypothesis, we performed a field study determining the weathering rates of 8 nearly pristine north-eastern Iceland river catchments with varying glacial cover over 44 years. The mean annual temperature and annual precipitation of these catchments varied by 3.2 to 4.5 degrees C and 80 to 530%, respectively during the study period. Statistically significant linear positive correlations were found between mean annual temperature and chemical weathering in all 8 catchments and between mean annual temperature and both mechanical weathering and runoff in 7 of the 8 catchments. For each degree of temperature increase, the runoff, mechanical weathering flux, and chemical weathering fluxes in these catchments are found to increase from 6 to 16%, 8 to 30%, and 4 to 14% respectively, depending on the catchment. In contrast, annual precipitation is less related to the measured fluxes; statistically significant correlations between annual precipitation and runoff, mechanical weathering, and chemical weathering were found for 3 of the least glaciated catchments. Mechanical and chemical weathering increased with time in all catchments over the 44 year period. These correlations were statistically significant for only 2 of the 8 catchments due to scatter in corresponding annual runoff and average annual temperature versus time plots. Taken together, these results 1) demonstrate a significant feedback between climate and Earth surface weathering, and 2) suggest that weathering rates are currently increasing with time due to global warming.
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| 13. |
- Pervjakova, Natalia, et al.
(författare)
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Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes
- 2022
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 31:19, s. 3377-3391
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Tidskriftsartikel (refereegranskat)abstract
- Gestational diabetes mellitus (GDM) is associated with increased risk of pregnancy complications and adverse perinatal outcomes. GDM often reoccurs and is associated with increased risk of subsequent diagnosis of type 2 diabetes (T2D). To improve our understanding of the aetiological factors and molecular processes driving the occurrence of GDM, including the extent to which these overlap with T2D pathophysiology, the GENetics of Diabetes In Pregnancy (GenDIP) Consortium assembled genome-wide association studies (GWAS) of diverse ancestry in a total of 5485 women with GDM and 347 856 without GDM. Through multi-ancestry meta-analysis, we identified five loci with genome-wide significant association (p < 5x10-8) with GDM, mapping to/near MTNR1B (p = 4.3x10-54), TCF7L2 (p = 4.0x10-16), CDKAL1 (p = 1.6 × 10-14), CDKN2A-CDKN2B (p = 4.1x10-9) and HKDC1 (p = 2.9x10-8). Multiple lines of evidence pointed to the shared pathophysiology of GDM and T2D: (i) four of the five GDM loci (not HKDC1) have been previously reported at genome-wide significance for T2D; (ii) significant enrichment for associations with GDM at previously reported T2D loci; (iii) strong genetic correlation between GDM and T2D; and (iv) enrichment of GDM associations mapping to genomic annotations in diabetes-relevant tissues and transcription factor binding sites. Mendelian randomisation analyses demonstrated significant causal association (5% false discovery rate) of higher body mass index on increased GDM risk. Our results provide support for the hypothesis that GDM and T2D are part of the same underlying pathology but that, as exemplified by the HKDC1 locus, there are genetic determinants of GDM that are specific to glucose regulation in pregnancy.
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| 14. |
- Thorell, Kaisa, 1983, et al.
(författare)
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The Helicobacter pylori Genome Project: insights into H. pylori population structure from analysis of a worldwide collection of complete genomes
- 2023
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Ingår i: Nature Communications. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Helicobacter pylori, a dominant member of the gastric microbiota, shares co-evolutionary history with humans. This has led to the development of genetically distinct H. pylori subpopulations associated with the geographic origin of the host and with differential gastric disease risk. Here, we provide insights into H. pylori population structure as a part of the Helicobacter pylori Genome Project (HpGP), a multi-disciplinary initiative aimed at elucidating H. pylori pathogenesis and identifying new therapeutic targets. We collected 1011 well-characterized clinical strains from 50 countries and generated high-quality genome sequences. We analysed core genome diversity and population structure of the HpGP dataset and 255 worldwide reference genomes to outline the ancestral contribution to Eurasian, African, and American populations. We found evidence of substantial contribution of population hpNorthAsia and subpopulation hspUral in Northern European H. pylori. The genomes of H. pylori isolated from northern and southern Indigenous Americans differed in that bacteria isolated in northern Indigenous communities were more similar to North Asian H. pylori while the southern had higher relatedness to hpEastAsia. Notably, we also found a highly clonal yet geographically dispersed North American subpopulation, which is negative for the cag pathogenicity island, and present in 7% of sequenced US genomes. We expect the HpGP dataset and the corresponding strains to become a major asset for H. pylori genomics.
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