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- Manousaki, D., et al.
(författare)
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Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis
- 2017
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 101:2, s. 227-238
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Tidskriftsartikel (refereegranskat)abstract
- Vitamin D insufficiency is common, correctable, and influenced by genetic factors, and it has been associated with risk of several diseases. We sought to identify low-frequency genetic variants that strongly increase the risk of vitamin D insufficiency and tested their effect on risk of multiple sclerosis, a disease influenced by low vitamin D concentrations. We used whole-genome sequencing data from 2,619 individuals through the UK10K program and deep-imputation data from 39,655 individuals genotyped genome-wide. Meta-analysis of the summary statistics from 19 cohorts identified in CYP2R1 the low-frequency (minor allele frequency = 2.5%) synonymous coding variant g.14900931G>A (p.Asp120Asp) (rs117913124[A]), which conferred a large effect on 25-hydroxyvitamin D (25OHD) levels (-0.43 SD of standardized natural log-transformed 25OHD per A allele; p value = 1.5 x 10(-88)). The effect on 25OHD was four times larger and independent of the effect of a previously described common variant near CYP2R1. By analyzing 8,711 individuals, we showed that heterozygote carriers of this low-frequency variant have an increased risk of vitamin D insufficiency (odds ratio [OR] = 2.2, 95% confidence interval [CI] = 1.78-2.78, p = 1.26 3 10 x(-12)). Individuals carrying one copy of this variant also had increased odds of multiple sclerosis (OR = 1.4, 95% CI = 1.19-1.64, p = 2.63 3 10 x(-5)) in a sample of 5,927 case and 5,599 control subjects. In conclusion, we describe a low-frequency CYP2R1 coding variant that exerts the largest effect upon 25OHD levels identified to date in the general European population and implicates vitamin D in the etiology of multiple sclerosis.
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| 4. |
- Bick, Ulrich, et al.
(författare)
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Image-guided breast biopsy and localisation : recommendations for information to women and referring physicians by the European Society of Breast Imaging
- 2020
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Ingår i: Insights into Imaging. - : Springer Science and Business Media LLC. - 1869-4101. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- We summarise here the information to be provided to women and referring physicians about percutaneous breast biopsy and lesion localisation under imaging guidance. After explaining why a preoperative diagnosis with a percutaneous biopsy is preferred to surgical biopsy, we illustrate the criteria used by radiologists for choosing the most appropriate combination of device type for sampling and imaging technique for guidance. Then, we describe the commonly used devices, from fine-needle sampling to tissue biopsy with larger needles, namely core needle biopsy and vacuum-assisted biopsy, and how mammography, digital breast tomosynthesis, ultrasound, or magnetic resonance imaging work for targeting the lesion for sampling or localisation. The differences among the techniques available for localisation (carbon marking, metallic wire, radiotracer injection, radioactive seed, and magnetic seed localisation) are illustrated. Type and rate of possible complications are described and the issue of concomitant antiplatelet or anticoagulant therapy is also addressed. The importance of pathological-radiological correlation is highlighted: when evaluating the results of any needle sampling, the radiologist must check the concordance between the cytology/pathology report of the sample and the radiological appearance of the biopsied lesion. We recommend that special attention is paid to a proper and tactful approach when communicating to the woman the need for tissue sampling as well as the possibility of cancer diagnosis, repeat tissue sampling, and or even surgery when tissue sampling shows a lesion with uncertain malignant potential (also referred to as “high-risk” or B3 lesions). Finally, seven frequently asked questions are answered.
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| 5. |
- Maehlen, Marthe T., et al.
(författare)
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Associations between APOE Genotypes and Disease Susceptibility, Joint Damage and Lipid Levels in Patients with Rheumatoid Arthritis
- 2013
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 8:4
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Apolipoprotein E (APOE) genotypes are associated with cardiovascular disease (CVD) and lipid levels. In rheumatoid arthritis (RA), an association has been found with disease activity. We examined the associations between APOE genotypes and disease susceptibility and markers of disease severity in RA, including radiographic joint damage, inflammatory markers, lipid levels and cardiovascular markers. Method: A Norwegian cohort of 945 RA patients and 988 controls were genotyped for two APOE polymorphisms. We examined longitudinal associations between APOE genotypes and C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) as well as hand radiographs (van der Heijde Sharp Score(SHS)) in 207 patients with 10 year longitudinal data. Lipid levels, cardiovascular markers and history of CVD were compared across genotypes in a cross sectional study of 136 patients. Longitudinal radiological data of cohorts from Lund and Leiden were available for replication. (N = 935, with 4799 radiographs). Results: In the Norwegian cohort, associations between APOE genotypes and total cholesterol (TC) and low-density lipoproteins (LDL) were observed (epsilon 2
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| 6. |
- Vrdoljak, E., et al.
(författare)
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Insights into cancer surveillance in Central and Eastern Europe, Israel and Turkey
- 2015
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Ingår i: European Journal of Cancer Care. - : Hindawi Limited. - 1365-2354 .- 0961-5423. ; 24:1, s. 99-110
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Tidskriftsartikel (refereegranskat)abstract
- The current cancer landscape within transitional economies in central and Eastern Europe and the Mediterranean area is not particularly optimistic. Current perceptions are often based on extrapolations from other countries and regions; and hence the authors collaborated with the South Eastern Europe Oncology Group (SEEROG) to collect information on cancer registration in Central and Eastern Europe, Israel and Turkey. Healthcare authorities and specialist oncology centres in 21 countries in the region were contacted for information on cancer registries in their countries. Based on this information, the authors believe that the recording and reporting of data on cancer in the region is at an acceptable level. The authors discuss and compare institution- and population-based registries, and present opinions on elements of an ideal registry' based on the survey replies and comparisons with other registries. A comparison with the sources used for GLOBOCAN 2008 illustrates the need for consistent data to be communicated, published and utilised throughout the region and the oncology community. The authors conclude by considering the potential value of collaboration between health authorities across the region, as well as between the clinical and epidemiological communities, to ensure that cancer data are consistently collected, verified and made public.
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| 7. |
- Delcoigne, Bénédicte, et al.
(författare)
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How does current disease activity in rheumatoid arthritis affect the short-term risk of acute coronary syndrome? : A clinical register based study from Sweden and Norway
- 2023
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Ingår i: European journal of internal medicine. - 0953-6205 .- 1879-0828. ; 115, s. 55-61
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: To estimate short-term risks of acute coronary syndrome (ACS) in patients with rheumatoid arthritis (RA) as a function of current RA disease activity including remission.Methods: Data from clinical visits of RA patients in Sweden (SE) and Norway (NO) between January 1st 2012 until December 31st 2020 were used. At each visit, patient's disease activity was assessed including remission status (measured with several metrics). Through linkage to national health and death registers, patients were followed up for incident ACS up to six months from each visit. We compared the short-term risk of ACS in patients not in remission vs. in remission using Cox regression analyses with robust standard errors, adjusted for country and covariates (e.g., age, sex, prednisolone use, comorbidities). We also explored disease activity categories as exposure.Results: We included 212,493 visits (10,444 from Norway and 202,049 from Sweden) among 41,250 patients (72% women, mean age at visit 62 years). During the 6-month follow-ups, we observed 524 incident ACS events. Compared to patients in remission, patients currently not in remission had an increased rate of ACS: adjusted hazard ratio (95% confidence interval) 1.52 (1.24–1.85) with DAS28 metric. The crude absolute six-month risks were 0.2% for patients in remission vs. 0.4% for patients with DAS28 high disease activity. The use of alternative RA disease activity and remission metrics provided similar results.Conclusion: Failure to reach remission is associated with elevated short-term risks of ACS, underscoring the need for CV risk factor optimization in these patients.
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| 8. |
- Delcoigne, Benedicte, et al.
(författare)
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Short-term, intermediate-term and long-term risks of acute coronary syndrome in cohorts of patients with RA starting biologic DMARDs : Results from four Nordic countries
- 2022
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Ingår i: Annals of the Rheumatic Diseases. - : BMJ Publishing Group Ltd. - 0003-4967 .- 1468-2060. ; 81:6, s. 789-797
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: To compare the 1-year, 2-year and 5-year incidences of acute coronary syndrome (ACS) in patients with rheumatoid arthritis (RA) starting any of the biologic disease-modifying antirheumatic drugs (bDMARDs) currently available in clinical practice and to anchor these results with a general population comparator.Methods: Observational cohort study, with patients from Denmark, Finland, Norway and Sweden starting a bDMARD during 2008-2017. Time to first ACS was identified through register linkages. We calculated the 1-year, 2-year and 5-year incidence rates (IR) (on drug and ever since treatment start) and used Cox regression (HRs) to compare ACS incidences across treatments taking ACS risk factors into account. Analyses were further performed separately in subgroups defined by age, number of previous bDMARDs and history of cardiovascular disease. We also compared ACS incidences to an individually matched general population cohort.Results: 24 083 patients (75% women, mean age 56 years) contributing 40 850 treatment courses were included. During the maximum (5 years) follow-up (141 257 person-years (pyrs)), 780 ACS events occurred (crude IR 5.5 per 1000 pyrs). Overall, the incidence of ACS in RA was 80% higher than that in the general population. For all bDMARDs and follow-up definitions, HRs were close to 1 (etanercept as reference) with the exception of the 5-year risk window, where signals for abatacept, infliximab and rituximab were noted.Conclusion: The rate of ACS among patients with RA initiating bDMARDs remains elevated compared with the general population. As used in routine care, the short-term, intermediate-term and longer-term risks of ACS vary little across individual bDMARDs.
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| 9. |
- Joseph, Kenth L, et al.
(författare)
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Osteoarthritis-related walking disability and arterial stiffness-results from a cross-sectional study
- 2019
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Ingår i: Arthritis care and research : the official journal of the Arthritis Health Professions Association. - : Wiley. - 2151-4658. ; 71:2, s. 252-258
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To compare 6 minute walking distance (6MWD) in a population-based osteoarthritis (OA) cohort with matched peers from the general population, and to explore the associations between walking ability and CVD risk (arterial stiffness) in the OA cohort.DESIGN: This cross-sectional study included participants (40-80 years) who self-reported OA (n=500) in a population-based study and age- and gender-matched peers from the general population (n=235). Clinical examinations of the OA participants included classification according to the American College of Rheumatology criteria, blood samples and measuring arterial stiffness (pulse wave velocity, PWV). Group differences in 6MWD were calculated with t-tests. The association between walking ability and CVD risk in the OA cohort was explored in multivariate regression models.RESULTS: In age stratified analyses, the largest mean difference in 6MWD was observed in the youngest age groups (40-49 years); the OA group walked 84.6 meters (female; 579.4 m vs 663.9 m, p<0.001) and 88.3 meters (male; 619.9 m vs 708.3 m, p=0.001) shorter than the reference groups, respectively. In the OA group, the 6MWD was significantly associated to PWV in adjusted analysis (p=0.001); 100 m longer walking distance corresponded to 0.3 m/s reduction in arterial stiffness.CONCLUSION: Already from the age of forty, people with OA have significantly shorter mean walking distance compared to matched peers, underlining the importance of early clinical approach to OA. Further, in the OA-group, the 6MWD was significantly associated with arterial stiffness, suggesting that walking ability is important for the CVD risk profile in OA. This article is protected by copyright. All rights reserved.
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| 10. |
- Komyakova, Valeriya, et al.
(författare)
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Conceptualisation of multiple impacts interacting in the marine environment using marine infrastructure as an example
- 2022
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Ingår i: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 830
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Forskningsöversikt (refereegranskat)abstract
- The human population is increasingly reliant on the marine environment for food, trade, tourism, transport, communication and other vital ecosystem services. These services require extensive marine infrastructure, all of which have direct or indirect ecological impacts on marine environments. The rise in global marine infrastructure has led to light, noise and chemical pollution, as well as facilitation of biological invasions. As a result, marine systems and associated species are under increased pressure from habitat loss and degradation, formation of ecological traps and increased mortality, all of which can lead to reduced resilience and consequently increased invasive species establishment. Whereas the cumulative bearings of collective human impacts on marine populations have previously been demonstrated, the multiple impacts associated with marine infrastructure have not been well explored. Here, building on ecological literature, we explore the impacts that are associated with marine infrastructure, conceptualising the notion of correlative, interactive and cumulative effects of anthropogenic activities on the marine environment. By reviewing the range of mitigation approaches that are currently available, we consider the role that eco-engineering, marine spatial planning and agent-based modelling plays in complementing the design and placement of marine structures to incorporate the existing connectivity pathways, ecological principles and complexity of the environment. Because the effect of human-induced, rapid environmental change is predicted to increase in response to the growth of the human population, this study demonstrates that the development and implementation of legislative framework, innovative technologies and nature-informed solutions are vital, preventative measures to mitigate the multiple impacts associated with marine infrastructure.
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