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- Chu, Audrey Y, et al.
(författare)
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Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation
- 2017
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:1, s. 125-130
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Tidskriftsartikel (refereegranskat)abstract
- Variation in body fat distribution contributes to the metabolic sequelae of obesity. The genetic determinants of body fat distribution are poorly understood. The goal of this study was to gain new insights into the underlying genetics of body fat distribution by conducting sample-size-weighted fixed-effects genome-wide association meta-analyses in up to 9,594 women and 8,738 men of European, African, Hispanic and Chinese ancestry, with and without sex stratification, for six traits associated with ectopic fat (hereinafter referred to as ectopic-fat traits). In total, we identified seven new loci associated with ectopic-fat traits (ATXN1, UBE2E2, EBF1, RREB1, GSDMB, GRAMD3 and ENSA; P < 5 × 10(-8); false discovery rate < 1%). Functional analysis of these genes showed that loss of function of either Atxn1 or Ube2e2 in primary mouse adipose progenitor cells impaired adipocyte differentiation, suggesting physiological roles for ATXN1 and UBE2E2 in adipogenesis. Future studies are necessary to further explore the mechanisms by which these genes affect adipocyte biology and how their perturbations contribute to systemic metabolic disease.
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| 2. |
- Siddiqui, Moneeza K., et al.
(författare)
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A common missense variant of LILRB5 is associated with statin intolerance and myalgia
- 2017
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Ingår i: European Heart Journal. - : Oxford University Press (OUP). - 0195-668X .- 1522-9645. ; 38:48, s. 3569-U31
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Tidskriftsartikel (refereegranskat)abstract
- Aims: A genetic variant in LILRB5 (leukocyte immunoglobulin-like receptor subfamily-B) (rs12975366: T > C: Asp247Gly) has been reported to be associated with lower creatine phosphokinase (CK) and lactate dehydrogenase (LDH) levels. Both biomarkers are released from injured muscle tissue, making this variant a potential candidate for susceptibility to muscle-related symptoms. We examined the association of this variant with statin intolerance ascertained from electronic medical records in the GoDARTS study.Methods and results: In the GoDARTS cohort, the LILRB5 Asp247 variant was associated with statin intolerance (SI) phenotypes; one defined as having raised CK and being non-adherent to therapy [odds ratio (OR) 1.81; 95% confidence interval (CI): 1.34–2.45] and the other as being intolerant to the lowest approved dose of a statin before being switched to two or more other statins (OR 1.36; 95% CI: 1.07–1.73). Those homozygous for Asp247 had increased odds of developing both definitions of intolerance. Importantly the second definition did not rely on CK elevations. These results were replicated in adjudicated cases of statin-induced myopathy in the PREDICTION-ADR consortium (OR1.48; 95% CI: 1.05–2.10) and for the development of myalgia in the JUPITER randomized clinical trial of rosuvastatin (OR1.35, 95% CI: 1.10–1.68). A meta-analysis across the studies showed a consistent association between Asp247Gly and outcomes associated with SI (OR1.34; 95% CI: 1.16–1.54).Conclusion: This study presents a novel immunogenetic factor associated with statin intolerance, an important risk factor for cardiovascular outcomes. The results suggest that true statin-induced myalgia and non-specific myalgia are distinct, with a potential role for the immune system in their development. We identify a genetic group that is more likely to be intolerant to their statins.
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| 6. |
- Blösch, Günter, et al.
(författare)
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Twenty-three unsolved problems in hydrology (UPH) - a community perspective
- 2019
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Ingår i: Hydrological Sciences Journal. - : Informa UK Limited. - 0262-6667 .- 2150-3435. ; 64:10, s. 1141-1158
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Tidskriftsartikel (refereegranskat)abstract
- This paper is the outcome of a community initiative to identify major unsolved scientific problems in hydrology motivated by a need for stronger harmonisation of research efforts. The procedure involved a public consultation through online media, followed by two workshops through which a large number of potential science questions were collated, prioritised, and synthesised. In spite of the diversity of the participants (230 scientists in total), the process revealed much about community priorities and the state of our science: a preference for continuity in research questions rather than radical departures or redirections from past and current work. Questions remain focused on the process-based understanding of hydrological variability and causality at all space and time scales. Increased attention to environmental change drives a new emphasis on understanding how change propagates across interfaces within the hydrological system and across disciplinary boundaries. In particular, the expansion of the human footprint raises a new set of questions related to human interactions with nature and water cycle feedbacks in the context of complex water management problems. We hope that this reflection and synthesis of the 23 unsolved problems in hydrology will help guide research efforts for some years to come.
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| 7. |
- Carr, Amelia, et al.
(författare)
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Nutritional intake in elite cross-country skiers during a simulated sprint race
- 2017
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Konferensbidrag (refereegranskat)abstract
- Introduction: Habitual nutritional intakes in cross-country skiers have previously been reported (Fogelholm et al., 1992), however in elite cross-country skiers there is limited knowledge about race-specific nutritional practices, or the prevalence of dehydration and persistent low energy availability (EA). This study aimed to investigate, in the context of a simulated sprint race, energy intake, macronutrient intake, hydration status and the risk of persistent low EA in elite cross-country skiers. Methods: Thirty-two male (n = 18) and female (n = 14) elite Swedish cross-country skiers completed weighed food records the day prior to (day 1) and the day of a simulated sprint race (day 2); the food records were analysed for energy (kcal/kg), macronutrient (g/kg) and fluid intake (L). Urine specific gravity (USG) was also measured on day 1 and day 2. The risk for persistent low EA was assessed in the female skiers using the Low Energy Availability in Females Questionnaire (LEAF-Q; Melin et al., 2014). Results were analysed using a three-way mixed ANOVA. Statistical significance was set to a level of p ≤ 0.05. Results: Males had a higher energy intake (65±9 kcal/kg) on day 1, (pre-race) compared with day 2 (simulated sprint race; 58±9kcal/kg; p = 0.002). Females consumed 57±10 kcal/kg on day 1, which was similar to their day 2 energy intake (54±6 kcal on day 2; p > 0.05). Males consumed less carbohydrate (8.2±2.3g/kg) on day 1 compared with day 2 (8.9±2.3g/kg) (p = 0.026), as did females, consuming 7.0±1.5g/kg on day 1, and 8.4±1.7g/kg on day 2 (p = 0.003). There were similar fluid intakes across the two days for males (p > 0.05) and females (p > 0.05). Nine of the 18 males and 6 of the 14 females were dehydrated (USG > 1.020) on day 1, and 9 males and 5 females were dehydrated on day 2. Five of the 14 females were classified as being at risk of persistent low EA. Discussion: This study provides an initial insight into nutritional competition habits in elite cross-country skiers. The findings indicate that elite skiers’ nutritional intakes are consistent with guidelines, particularly those for endurance athletes’ carbohydrate intake for competitive events (Burke et al., 2001). There was however some evidence of persistent low EA and dehydration, suggesting additional considerations that may be relevant to cross-country skiers’ nutritional intakes for sprint races.
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| 8. |
- Carr, Amelia, et al.
(författare)
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Nutritional Intake in Elite Cross-Country Skiers During Two Days of Training and Competition
- 2019
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Ingår i: International Journal of Sport Nutrition & Exercise Metabolism. - Birmingham : Human Kinetics. - 1526-484X .- 1543-2742. ; 29:3, s. 273-281
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Tidskriftsartikel (refereegranskat)abstract
- This study investigated the energy, macronutrient, and fluid intakes, as well as hydration status (urine specific gravity), in elite cross-country skiers during a typical day of training (Day 1) and a sprint skiing competition the following day (Day 2). A total of 31 (18 males and 13 females) national team skiers recorded their food and fluid intakes and urine specific gravity was measured on Days 1 and 2. In addition, the females completed the Low Energy Availability in Females Questionnaire to assess their risk of long-term energy deficiency. Energy intake for males was 65 ± 9 kcal/kg on Day 1 versus 58 ± 9 kcal/kg on Day 2 (p = .002) and for females was 57 ± 10 on Day 1 versus 55 ± 5 kcal/kg on Day 2 (p = .445). Carbohydrate intake recommendations of 10-12 g·kg-1·day-1 were not met by 89% of males and 92% of females. All males and females had a protein intake above the recommended 1.2-2.0 g/kg on both days and a postexercise protein intake above the recommended 0.3 g/kg. Of the females, 31% were classified as being at risk of long-term energy deficiency. In the morning of Day 1, 50% of males and 46% of females were dehydrated; on Day 2, this was the case for 56% of males and 38% of females. In conclusion, these data suggest that elite cross-country skiers ingested more protein and less carbohydrate than recommended and one third of the females were considered at risk of long-term energy deficiency. Furthermore, many of the athletes were dehydrated prior to training and competition.
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| 9. |
- Dimmock, Andrew P., et al.
(författare)
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Direct evidence of nonstationary collisionless shocks in space plasmas
- 2019
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Ingår i: Science Advances. - : AMER ASSOC ADVANCEMENT SCIENCE. - 2375-2548. ; 5:2
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Tidskriftsartikel (refereegranskat)abstract
- Collisionless shocks are ubiquitous throughout the universe: around stars, supernova remnants, active galactic nuclei, binary systems, comets, and planets. Key information is carried by electromagnetic emissions from particles accelerated by high Mach number collisionless shocks. These shocks are intrinsically nonstationary, and the characteristic physical scales responsible for particle acceleration remain unknown. Quantifying these scales is crucial, as it affects the fundamental process of redistributing upstream plasma kinetic energy into other degrees of freedom-particularly electron thermalization. Direct in situ measurements of nonstationary shock dynamics have not been reported. Thus, the model that best describes this process has remained unknown. Here, we present direct evidence demonstrating that the transition to nonstationarity is associated with electron-scale field structures inside the shock ramp.
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| 10. |
- Jousse-Joulin, Sandrine, et al.
(författare)
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Is salivary gland ultrasonography a useful tool in Sjögren's syndrome? A systematic review
- 2016
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Ingår i: Rheumatology. - : Oxford University Press (OUP). - 1462-0324 .- 1462-0332. ; 55:5, s. 789-800
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Tidskriftsartikel (refereegranskat)abstract
- Objective. Ultrasonography (US) is a sensitive tool in the diagnosis of major salivary gland abnormalities in primary Sjögren's syndrome (pSS). The aim of this systematic review was to assess the metric properties of this technique. Methods. PUBMED and EMBASE databases were searched. All publications between January 1988 and January 2013 were considered. Data were extracted from the articles meeting the inclusion criteria according to US definition of salivary gland scoring system and metric properties studied. The type and number of glands tested, study design and metric properties according to OMERACT filter (truth, discrimination, feasibility) were assessed. Results. Of 167 publications identified initially with PUBMED and EMBASE, 31 met the inclusion criteria. The number of pSS patients varied among the studies from 16 to 140. The diagnosis of pSS was in line in most of the cases with the American-European Consensus Group (AECG) classification criteria for Sjögren's syndrome. The US examination was performed in suspected pSS only in studies in which the sensitivity ranged from 45.8 to 91.6% and specificity from 73 to 98.1%. There was heterogeneity in regard to the definition of US in B-mode and few studies used US in colour Doppler. Few studies reported reliability of US and sensitivity to change in pSS. Conclusion. US is a valuable tool for detecting salivary gland abnormalities in pSS. Its reliability has been poorly investigated and there is considerable variation in the definition of US abnormalities. Further studies are required to validate and standardize the US definition of salivary gland in pSS.
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