| 1. |
- Beecham, Ashley H, et al.
(författare)
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
- 2013
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60
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Tidskriftsartikel (refereegranskat)abstract
- Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
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| 2. |
- Danilchenko, Boris A., et al.
(författare)
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High temperature Luttinger liquid conductivity in carbon nanotube bundles
- 2010
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Ingår i: Applied Physics Letters. - : American Institute of Physics. - 0003-6951 .- 1077-3118. ; 97:7, s. 072106-
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Tidskriftsartikel (refereegranskat)abstract
- The conductance and the current-voltage characteristics of metallic single wall carbon nanotube bundles have been measured between 4.2 and 330 K using 10–30 ns electric pulses to avoid overheating. The current-voltage characteristics at different temperatures collapse to a single curve when plotted in the specific coordinates following from the Tomonaga–Luttinger (T–L) liquid concept. Direct evidence is obtained for the existence of a T–L liquid phase up to 190 K and the system shows a transition between the T–L liquid state and a Mott insulating phase below 25 K.
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| 3. |
- Jansson, S. -A, et al.
(författare)
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Socioeconomic evaluation of well-characterized allergy to staple foods in adults
- 2014
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Ingår i: Allergy. European Journal of Allergy and Clinical Immunology. - : Wiley. - 0105-4538 .- 1398-9995. ; 69:9, s. 1241-1247
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Tidskriftsartikel (refereegranskat)abstract
- Background: The aim of the present study was to evaluate if total, direct, indirect, and intangible costs differ between a cohort of adults with well-characterized allergy to staple foods ('cases') and controls. Methods: Swedish adults with objectively diagnosed food allergy to cow's milk, hen's egg, and/or wheat were recruited at an outpatient allergy clinic. Controls age- and sex-matched to cases were recruited from the same geographic area. For assessing the household costs of food allergy, a disease-specific socioeconomic questionnaire, developed within EuroPrevall, was utilized. Results: Overall annual total costs at the household level were significantly higher among adults with food allergy compared with controls (the difference amounted to 8164 (sic) ), whereas direct costs did not differ between cases and controls. However, household healthcare costs and costs for medicines were significantly higher for cases vs controls. Furthermore, indirect costs were significantly higher for households with food-allergic adults vs households without food-allergic adults. Specifically, more time was spent on performing domestic tasks due to a family member's food-allergy-related illness, as well as shopping and preparing food, and seeking food-allergy-related information. Presence of food allergy also affected intangible costs. Adults with food allergy experienced overall lower health status compared with controls. Conclusions: Swedish adults with allergy to staple foods have higher total costs determined as direct, indirect, and intangible costs using the disease-specific socioeconomic questionnaire. Thus, total costs were 8164 (sic) higher per year in households with at least one adult allergic to staple foods compared with controls.
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| 4. |
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| 5. |
- Sawcer, Stephen, et al.
(författare)
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
- 2011
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 476:7359, s. 214-219
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Tidskriftsartikel (refereegranskat)abstract
- Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
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| 6. |
- Schön, Thomas, et al.
(författare)
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Effects of a food supplement rich in arginine in patients with smear positive pulmonary tuberculosis - A randomised trial
- 2011
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Ingår i: Tuberculosis. - : Elsevier. - 1472-9792 .- 1873-281X. ; 91:5, s. 370-377
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Tidskriftsartikel (refereegranskat)abstract
- In tuberculosis (TB), the production of nitric oxide (NO) is confirmed but its importance in host defense is debated. Our aim was to investigate whether a food supplement rich in arginine could enhance clinical improvement in TB patients by increased NO production. Smear positive TB patients from Gondar, Ethiopia (n = 180) were randomized to a food supplementation rich in arginine (peanuts, equivalent to 1 g of arginine/day) or with a low arginine content (wheat crackers, locally called daboqolo) during four weeks. The primary outcome was cure rate according to the WHO classification and secondary outcomes were sputum smear conversion, weight gain, sedimentation rate, reduction of cough and chest X-ray improvement as well as levels of NO in urine (uNO) or exhaled air (eNO) at two months. There was no effect of the intervention on the primary outcome (OR 1.44, 95% CI: 0.69-3.0, p = 0.39) or secondary outcomes. In the subgroup analysis according to HIV status, peanut supplemented HIV+/TB patients showed increased cure rate (83.8% (31/37) vs 53.1% (17/32), p andlt; 0.01). A low baseline eNO (andlt; 10 ppb) in HIV+/TB patients was associated with a decreased cure rate. We conclude that nutritional supplementation with a food supplement rich in arginine did not have any overall clinical effect. In the subgroup of HIV positive TB patients, it significantly increased the cure rate and as an additional finding in this subgroup, low initial levels of NO in exhaled air were associated with a poor clinical outcome but this needs to be confirmed in further studies.
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| 7. |
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| 8. |
- Sundqvist, Hanna S., et al.
(författare)
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Arctic Holocene proxy climate database - new approaches to assessing geochronological accuracy and encoding climate variables
- 2014
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Ingår i: Climate of the Past. - : Copernicus GmbH. - 1814-9324 .- 1814-9332. ; 10:4, s. 1605-1631
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Tidskriftsartikel (refereegranskat)abstract
- We present a systematic compilation of previously published Holocene proxy climate records from the Arctic. We identified 170 sites from north of 58 degrees N latitude where proxy time series extend back at least to 6 cal ka (all ages in this article are in calendar years before present - BP), are resolved at submillennial scale (at least one value every 400 +/- 200 years) and have age models constrained by at least one age every 3000 years. In addition to conventional meta-data for each proxy record (location, proxy type, reference), we include two novel parameters that add functionality to the database. First, climate interpretation is a series of fields that logically describe the specific climate variable(s) represented by the proxy record. It encodes the proxy-climate relation reported by authors of the original studies into a structured format to facilitate comparison with climate model outputs. Second, geochronology accuracy score (chron score) is a numerical rating that reflects the overall accuracy of C-14-based age models from lake and marine sediments. Chron scores were calculated using the original author-reported C-14 ages, which are included in this database. The database contains 320 records (some sites include multiple records) from six regions covering the circumpolar Arctic: Fennoscandia is the most densely sampled region (31% of the records), whereas only five records from the Russian Arctic met the criteria for inclusion. The database contains proxy records from lake sediment (60 %), marine sediment (32 %), glacier ice (5 %), and other sources. Most (61 %) reflect temperature (mainly summer warmth) and are primarily based on pollen, chironomid, or diatom assemblages. Many (15 %) reflect some aspect of hydroclimate as inferred from changes in stable isotopes, pollen and diatom assemblages, humification index in peat, and changes in equilibrium-line altitude of glaciers. This comprehensive database can be used in future studies to investigate the spatio-temporal pattern of Arctic Holocene climate changes and their causes. The Arctic Holocene data set is available from NOAA Paleoclimatology.
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