| 1. |
- Taal, H. Rob, et al.
(författare)
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Common variants at 12q15 and 12q24 are associated with infant head circumference
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:5, s. 532-538
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Tidskriftsartikel (refereegranskat)abstract
- To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
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| 2. |
- Kehoe, Laura, et al.
(författare)
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Make EU trade with Brazil sustainable
- 2019
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 3. |
- van der Valk, Ralf J P, et al.
(författare)
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A novel common variant in DCST2 is associated with length in early life and height in adulthood.
- 2015
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Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 24:4, s. 1155-68
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Tidskriftsartikel (refereegranskat)abstract
- Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 × 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; β = 0.046, SE = 0.008, P = 2.46 × 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 × 10(-4)) and adult height (N = 127 513; P = 1.45 × 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height.
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| 4. |
- Middeldorp, Christel M., et al.
(författare)
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The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia : design, results and future prospects
- 2019
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Ingår i: European Journal of Epidemiology. - : Springer Science and Business Media LLC. - 0393-2990 .- 1573-7284. ; 34:3, s. 279-300
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Tidskriftsartikel (refereegranskat)abstract
- The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as cardiovascular disease. Insight into the genetic etiology of childhood and adolescent traits and disorders may therefore provide new perspectives, not only on how to improve wellbeing during childhood, but also how to prevent later adverse outcomes. To achieve the sample sizes required for genetic research, the Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia were established. The majority of the participating cohorts are longitudinal population-based samples, but other cohorts with data on early childhood phenotypes are also involved. Cohorts often have a broad focus and collect(ed) data on various somatic and psychiatric traits as well as environmental factors. Genetic variants have been successfully identified for multiple traits, for example, birth weight, atopic dermatitis, childhood BMI, allergic sensitization, and pubertal growth. Furthermore, the results have shown that genetic factors also partly underlie the association with adult traits. As sample sizes are still increasing, it is expected that future analyses will identify additional variants. This, in combination with the development of innovative statistical methods, will provide detailed insight on the mechanisms underlying the transition from childhood to adult disorders. Both consortia welcome new collaborations. Policies and contact details are available from the corresponding authors of this manuscript and/or the consortium websites.
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| 5. |
- Halme, P., et al.
(författare)
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Challenges of ecological restoration : Lessons from forests in northern Europe
- 2013
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Ingår i: Biological Conservation. - : Elsevier BV. - 0006-3207 .- 1873-2917. ; 167, s. 248-256
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Forskningsöversikt (refereegranskat)abstract
- The alarming rate of ecosystem degradation has raised the need for ecological restoration throughout different biomes and continents. North European forests may appear as one of the least vulnerable ecosystems from a global perspective, since forest cover is not rapidly decreasing and many ecosystem services remain at high level. However, extensive areas of northern forests are heavily exploited and have lost a major part of their biodiversity value. There is a strong requirement to restore these areas towards a more natural condition in order to meet the targets of the Convention on Biological Diversity. Several northern countries are now taking up this challenge by restoring forest biodiversity with increasing intensity. The ecology and biodiversity of boreal forests are relatively well understood making them a good model for restoration activities in many other forest ecosystems. Here we introduce northern forests as an ecosystem, discuss the historical and recent human impact and provide a brief status report on the ecological restoration projects and research already conducted there. Based on this discussion, we argue that before any restoration actions commence, the ecology of the target ecosystem should be established with the need for restoration carefully assessed and the outcome properly monitored. Finally, we identify the most important challenges that need to be solved in order to carry out efficient restoration with powerful and long-term positive impacts on biodiversity: coping with unpredictability, maintaining connectivity in time and space, assessment of functionality, management of conflicting interests and social restrictions and ensuring adequate funding. © 2013 Elsevier Ltd.
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| 6. |
- Sundström, Johan, Professor, 1971-, et al.
(författare)
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Risk factors for subarachnoid haemorrhage : a nationwide cohort of 950 000 adults
- 2019
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Ingår i: International Journal of Epidemiology. - : Oxford University Press. - 0300-5771 .- 1464-3685. ; 48:6, s. 2018-2025
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Subarachnoid haemorrhage (SAH) is a devastating disease, with high mortality rate and substantial disability among survivors. Its causes are poorly understood. We aimed to investigate risk factors for SAH using a novel nationwide cohort consortium.METHODS: We obtained individual participant data of 949 683 persons (330 334 women) between 25 and 90 years old, with no history of SAH at baseline, from 21 population-based cohorts. Outcomes were obtained from the Swedish Patient and Causes of Death Registries.RESULTS: During 13 704 959 person-years of follow-up, 2659 cases of first-ever fatal or non-fatal SAH occurred, with an age-standardized incidence rate of 9.0 [95% confidence interval (CI) (7.4-10.6)/100 000 person-years] in men and 13.8 [(11.4-16.2)/100 000 person-years] in women. The incidence rate increased exponentially with higher age. In multivariable-adjusted Poisson models, marked sex interactions for current smoking and body mass index (BMI) were observed. Current smoking conferred a rate ratio (RR) of 2.24 (95% CI 1.95-2.57) in women and 1.62 (1.47-1.79) in men. One standard deviation higher BMI was associated with an RR of 0.86 (0.81-0.92) in women and 1.02 (0.96-1.08) in men. Higher blood pressure and lower education level were also associated with higher risk of SAH.CONCLUSIONS: The risk of SAH is 45% higher in women than in men, with substantial sex differences in risk factor strengths. In particular, a markedly stronger adverse effect of smoking in women may motivate targeted public health initiatives.
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| 7. |
- Bjornsson, P., et al.
(författare)
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Lattice and charge excitations in La1-xSrxMnO3
- 2000
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Ingår i: Physical Review B Condensed Matter. - 0163-1829 .- 1095-3795. ; 61, s. 1193-1197
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Tidskriftsartikel (refereegranskat)abstract
- We employ inelastic Light scattering to study the dependence of the lattice and charge excitations in La1-xSrxMnO3 compounds on doping and temperature. The phonons reveal strong local lattice distortions in the paramagnetic state, which gradually vanish below the ferromagnetic transition. We identify charge excitations in the metallic state. They exhibit a dependence on the doping level and symmetry selection rules typical for a plasmonlike excitation. Their energy scale of 100 meV requires a low-carrier-density component of the plasma outlining the importance of electronic interactions in La1-xSrxMnO3.
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| 8. |
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| 9. |
- Furmark, Tomas, et al.
(författare)
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A link between serotonin-related gene polymorphisms, amygdala activity, and placebo-induced relief from social anxiety
- 2008
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Ingår i: Journal of Neuroscience. - 0270-6474 .- 1529-2401. ; 28:49, s. 13066-74
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Tidskriftsartikel (refereegranskat)abstract
- Placebo may yield beneficial effects that are indistinguishable from those of active medication, but the factors underlying proneness to respond to placebo are widely unknown. Here, we used functional neuroimaging to examine neural correlates of anxiety reduction resulting from sustained placebo treatment under randomized double-blind conditions, in patients with social anxiety disorder. Brain activity was assessed during a stressful public speaking task by means of positron emission tomography before and after an 8 week treatment period. Patients were genotyped with respect to the serotonin transporter-linked polymorphic region (5-HTTLPR) and the G-703T polymorphism in the tryptophan hydroxylase-2 (TPH2) gene promoter. Results showed that placebo response was accompanied by reduced stress-related activity in the amygdala, a brain region crucial for emotional processing. However, attenuated amygdala activity was demonstrable only in subjects who were homozygous for the long allele of the 5-HTTLPR or the G variant of the TPH2 G-703T polymorphism, and not in carriers of short or T alleles. Moreover, the TPH2 polymorphism was a significant predictor of clinical placebo response, homozygosity for the G allele being associated with greater improvement in anxiety symptoms. Path analysis supported that the genetic effect on symptomatic improvement with placebo is mediated by its effect on amygdala activity. Hence, our study shows, for the first time, evidence of a link between genetically controlled serotonergic modulation of amygdala activity and placebo-induced anxiety relief.
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| 10. |
- Lund Ohlsson, Marie
(författare)
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Double Poling Incross-Country Skiing : Biomechanical and Physiological Analysis of Sitting and Standing Positions
- 2018
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Double poling (DP) is a sub-technique in cross-country skiing that has increased in interest over the last decades, e.g. athletes in cross-country skiing have increased their utilisation of double poling during competitions. In cross-country sit-skiing athletes with impairments in legs and/or trunk sit in a sledge and utilise DP to propel themselves. Technique (i.e. movement pattern) is one key factor determining performance but also a factor that may affect the risk of overuse injuries in sports.Therefore, the overall aim of the thesis was to improve the understanding of the human movement technique in cross-country skiing DP, in both standing (paper I-II) and sitting positions (paper III-IV, Thesis A-B) using biomechanical and physiological measurements and inverse dynamics simulations. All studies were carried out on a double poling ergometer in laboratory. Three experimental studies were performed with able-bodied participants (papers I-II, IV-VI), one study with one participant with growth defect in the legs (paper III), and one study (Thesis B) with one participant with complete spinal cord injury at thoracic vertebra 4.In paper I the first full-body simulation of DP was performed and results were comparable to results found in literature when the kinematics and external kinetics were similar. Paper II showed how increased leg utilisation increased performance (forward impulse) but reduced skiing efficiency (output work divided by metabolic muscle work). These results indicate that both high performance (power output) and efficiency may not be achieved in the same technique.In sitting DP many different sitting positions are utilised. Athletes with full muscle control in hip and trunk mainly sit with their knees lower than their hips (KLnoS). Athletes with paralysis in lower trunk and legs need trunk stability from the sit-ski. Most often, this is achieved by adopting a knees higher than hips (KH) position together with a support for the lower back. However, this position might induce large flexion in the spine, which is hypothesised to affect injury risk in the shoulders and lower back. This thesis has enabled the knees low sitting position for athletes with paralysis in the lower trunk and legs by supporting the anterior trunk with the sledge (KL). In sitting DP in athletes with full hip and trunk muscle control, high performance was achieved through proximal-distal sequencing from the hips through the trunk to the arms, and large muscle work in spine and legs (IV, V, Thesis A). In order of performance, KLnoS utilised muscles in the hips-spine-arms, compared with utilisation of spine-arms in KH, and mainly arms in KL. Higher amount of activated muscle mass resulted in lower relative anaerobic metabolism during submaximal exercise (IV).The lower back joint reactions were higher for the sitting position with larger spinal flexion, KH compared to KL (VI). These results suggest that there is an increased risk of injury in the lower back for the sitting position KH. Athletes with paraplegia generally have a high risk of injuries in the shoulders. The results of this thesis showed higher shoulder joint reactions in the sitting position with larger shoulder-arm muscle work, in KL compared to KH.For the case study with one participant with thoracic spinal cord injury (Thesis B) highest performance was achieved in the KH sitting position where spinal flexion occurred at the beginning of the poling phase. When comparing the fixed trunk positions KL and KHS, higher performance was achieved in KHS. It was speculated that the difference between KL and KHS was due to the impairment of the vasoconstriction in paralysed muscles. The effect of gravity on venous pooling is probably larger when the legs are lower down as in KL. This effect was not present for individuals without paralysis (III), where KL was more economical than KHS.Parasport classification needs evidence of how impairment affects sporting performance (Tweedy et al., 2014, Tweedy and Vanlandewijck, 2011). Classification might benefit from simulations as performed in this thesis. The musculoskeletal simulations of seated DP in paper V and the KLnoS position presented in the thesis have showed the relative contribution of different muscle groups on performance. These results are novel and might contribute to improvement of the classification system.
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