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- Clark, DW, et al.
(författare)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Tidskriftsartikel (refereegranskat)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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| 4. |
- Bälter, Katarina, et al.
(författare)
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Is a diet low in greenhouse gas emissions a nutritious diet? : - Analyses of self-selected diets in the LifeGene study
- 2017
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Ingår i: Archives of Public Health. - : BioMed Central Ltd.. - 0778-7367 .- 2049-3258. ; 75:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Climate change is an urgent global issue and the food sector is a major contributor to greenhouse gas emissions (GHGE). Here we study if a diet low in GHGE could be a nutritious diet compared to the Nordic Nutrition Recommendations (NNR). Methods: The environmental impact of foods from Life Cycle Assessment (LCA) data was linked to a food frequency questionnaire (FFQ) filled out by 5,364 participants in the Swedish LifeGene study. Thereafter, we calculated the daily emission of CO2 equivalents (CO2e) as well as the intake of selected nutrients associated with vegetables, fruits, meat and dairy products. The CO2e was divided into quartiles were quartile 1 corresponds to a diet generating the lowest CO2e, and quartile 4 corresponds to a diet with the highest CO2e. Results: The overall diet-related emission was 4.7kg CO2e/day and person, corresponding to 1.7 ton CO2e/year. In general, there were only small differences in nutrient intake between groups of varying levels of CO2e, regardless if the intake was analyzed as absolute intake, energy percent or as nutrient density. Moreover, adherence to NNR was high for the group with the lowest CO2e, except for saturated fat where the intake was higher than recommended for all CO2e groups. On the other hand, only the group with the lowest CO2e fulfilled recommended intake of fiber. However, none of the CO2e groups reached the recommended intake of folate and vitamin D. Conclusions: Here we show that a self-selected diet low in CO2e provides comparable intake of nutrients as a diet high in in CO2e.
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| 5. |
- Bälter, Katarina, et al.
(författare)
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Sustainable Lifestyle Among Office Workers (the SOFIA Study) : Protocol for a Cluster Randomized Controlled Trial
- 2024
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Ingår i: JMIR Research Protocols. - : JMIR Publications Inc.. - 1929-0748. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- Background: Society is facing multiple challenges, including lifestyle- and age-related diseases of major public health relevance, and this is of particular importance when the general population, as well as the workforce, is getting older. In addition, we are facing global climate change due to extensive emissions of greenhouse gases and negative environmental effects. A lifestyle that promotes healthy life choices as well as climate and environmentally friendly decisions is considered a sustainable lifestyle. Objective: This study aims to evaluate if providing information about a sustainable lifestyle encourages individuals to adopt more nutritious dietary habits and increase physical activity, as compared to receiving information solely centered around health-related recommendations for dietary intake and physical activity by the Nordic Nutrition Recommendations and the World Health Organization. Novel features of this study include the use of the workplace as an arena for health promotion, particularly among office workers—a group known to be often sedentary at work and making up 60% of all employees in Sweden. Methods: The Sustainable Office Intervention (SOFIA) study is a 2-arm, participant-blinded, cluster randomized controlled trial that includes a multilevel sustainable lifestyle arm (intervention arm, n=19) and a healthy lifestyle arm (control arm, n=14). The eligibility criteria were being aged 18-65 years and doing office work ≥20 hours per week. Both intervention arms are embedded in the theoretically based behavioral change wheel method. The intervention study runs for approximately 8 weeks and contains 6 workshops. The study focuses on individual behavior change as well as environmental and policy features at an organizational level to facilitate or hinder a sustainable lifestyle at work. Through implementing a citizen science methodology within the trial, the participants (citizen scientists) collect data using the Stanford Our Voice Discovery Tool app and are involved in analyzing the data, formulating a list of potential actions to bring about feasible changes in the workplace. Results: Participant recruitment and data collection began in August 2022. As of June 2024, a total of 37 participants have been recruited. The results of the pilot phase are expected to be published in 2024 or 2025. Conclusions: Given the ongoing climate change, negative environmental effects, and the global epidemic of metabolic diseases, a sustainable lifestyle among office workers holds important potential to help in counteracting this trend. Thus, there is an urgent unmet need to test the impact of a sustainable lifestyle on food intake, physical activity, and environmental and climate impacts in a worksite-based randomized controlled trial. This study protocol responds to a societal need by addressing multilevel aspects, including individual behavior changes as well as environmental and organizational changes of importance for the successful implementation of sustainable lifestyle habits in an office setting.
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| 6. |
- Ferreira, Manuel A R, et al.
(författare)
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Eleven loci with new reproducible genetic associations with allergic disease risk.
- 2019
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Ingår i: Journal of Allergy and Clinical Immunology. - : Elsevier BV. - 0091-6749 .- 1097-6825. ; 143:2, s. 691-699
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: A recent genome-wide association study (GWAS) identified 99 loci that contain genetic risk variants shared between asthma, hay fever, and eczema. Many more risk loci shared between these common allergic diseases remain to be discovered, which could point to new therapeutic opportunities.OBJECTIVE: We sought to identify novel risk loci shared between asthma, hay fever, and eczema by applying a gene-based test of association to results from a published GWAS that included data from 360,838 subjects.METHODS: We used approximate conditional analysis to adjust the results from the published GWAS for the effects of the top risk variants identified in that study. We then analyzed the adjusted GWAS results with the EUGENE gene-based approach, which combines evidence for association with disease risk across regulatory variants identified in different tissues. Novel gene-based associations were followed up in an independent sample of 233,898 subjects from the UK Biobank study.RESULTS: Of the 19,432 genes tested, 30 had a significant gene-based association at a Bonferroni-corrected P value of 2.5 × 10-6. Of these, 20 were also significantly associated (P < .05/30 = .0016) with disease risk in the replication sample, including 19 that were located in 11 loci not reported to contain allergy risk variants in previous GWASs. Among these were 9 genes with a known function that is directly relevant to allergic disease: FOSL2, VPRBP, IPCEF1, PRR5L, NCF4, APOBR, IL27, ATXN2L, and LAT. For 4 genes (eg, ATXN2L), a genetically determined decrease in gene expression was associated with decreased allergy risk, and therefore drugs that inhibit gene expression or function are predicted to ameliorate disease symptoms. The opposite directional effect was observed for 14 genes, including IL27, a cytokine known to suppress TH2 responses.CONCLUSION: Using a gene-based approach, we identified 11 risk loci for allergic disease that were not reported in previous GWASs. Functional studies that investigate the contribution of the 19 associated genes to the pathophysiology of allergic disease and assess their therapeutic potential are warranted.
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| 9. |
- Zhan, Y., et al.
(författare)
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Exploring the Causal Pathway from Telomere Length to Coronary Heart Disease : A Network Mendelian Randomization Study
- 2017
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Ingår i: Circulation Research. - : Lippincott Williams and Wilkins. - 0009-7330 .- 1524-4571. ; 121:3, s. 214-219
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Tidskriftsartikel (refereegranskat)abstract
- Rationale: Observational studies have found shorter leukocyte telomere length (TL) to be a risk factor for coronary heart disease (CHD), and recently the association was suggested to be causal. However, the relationship between TL and common metabolic risk factors for CHD is not well understood. Whether these risk factors could explain pathways from TL to CHD warrants further attention.Objective: To examine whether metabolic risk factors for CHD mediate the causal pathway from short TL to increased risk of CHD using a network Mendelian randomization design.Methods and Results: Summary statistics from several genome-wide association studies were used in a 2-sample Mendelian randomization study design. Network Mendelian randomization analysis - an approach using genetic variants as the instrumental variables for both the exposure and mediator to infer causality - was performed to examine the causal association between telomeres and CHD and metabolic risk factors. Summary statistics from the ENGAGE Telomere Consortium were used (n=37 684) as a TL genetic instrument, CARDIoGRAMplusC4D Consortium data were used (case=22 233 and control=64 762) for CHD, and other consortia data were used for metabolic traits (fasting insulin, triglyceride, total cholesterol, low-density lipoprotein cholesterol, fasting glucose, diabetes mellitus, glycohemoglobin, body mass index, waist circumference, and waist:hip ratio). One-unit increase of genetically determined TL was associated with -0.07 (95% confidence interval, -0.01 to -0.12; P=0.01) lower log-transformed fasting insulin (pmol/L) and 21% lower odds (95% confidence interval, 3-35; P=0.02) of CHD. Higher genetically determined log-transformed fasting insulin level was associated with higher CHD risk (odds ratio, 1.86; 95% confidence interval, 1.01-3.41; P=0.04).Conclusions: Overall, our findings support a role of insulin as a mediator on the causal pathway from shorter telomeres to CHD pathogenesis.
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