| 1. |
- Berndt, Sonja I., et al.
(author)
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- 2013
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
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Journal article (peer-reviewed)abstract
- Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
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| 2. |
- Ellinor, Patrick T., et al.
(author)
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Meta-analysis identifies six new susceptibility loci for atrial fibrillation
- 2012
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:6, s. 88-670
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Journal article (peer-reviewed)abstract
- Atrial fibrillation is a highly prevalent arrhythmia and a major risk factor for stroke, heart failure and death(1). We conducted a genome-wide association study (GWAS) in individuals of European ancestry, including 6,707 with and 52,426 without atrial fibrillation. Six new atrial fibrillation susceptibility loci were identified and replicated in an additional sample of individuals of European ancestry, including 5,381 subjects with and 10,030 subjects without atrial fibrillation (P < 5 x 10(-8)). Four of the loci identified in Europeans were further replicated in silico in a GWAS of Japanese individuals, including 843 individuals with and 3,350 individuals without atrial fibrillation. The identified loci implicate candidate genes that encode transcription factors related to cardiopulmonary development, cardiac-expressed ion channels and cell signaling molecules.
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| 3. |
- Goepfert, Caroline, et al.
(author)
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Elite cross-country skiers’ adaptations of the diagonal stride technique at different inclinations
- 2009
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Conference paper (peer-reviewed)abstract
- Introduction: Despite the equal relevance of classic and freestyle in modern cross-country skiing, the main focus of biomechanical studies has mainly been on the latter technique. Diagonal stride [DIA] as a main classical technique has further developed over the last 20 years. There is still a lack of biomechanical data describing DIA and adaptations to different inclinations. A previous study showed that skiers increased cycle rate rather than cycle length as the strategy to adapt to increasing inclinations (Bilodeau et al. 1992). However, no kinetic or joint kinematic data were presented. The aim of the present study was to identify kinetic and kinematic adaptations in DIA at different inclinations. Methods: Twelve elite XC skiers (Swedish National Team; VO2max-DIA: 72.3 ± 3.8 ml·kg-1·min-1) performed DIA roller skiing at treadmill inclinations of 3°, 6° and 9° at 11 km·h-1 for biomechanical analyses. Leg and arm joint angles (goniometers), pole force (strain gauge), both at 2000 Hz, and plantar force (Pedar Mobile) at 100 Hz were recorded. Repeated measures ANOVA were calculated in order to examine the biomechanical differences between the named inclinations. The statistical level of significance was set at P<0.05. Results: Cycle time [CT] (P<0.01) and relative (%CT) arm recovery time (P<0.05) decreased at higher inclinations. Cycle rate and relative poling time both increased (both P<0.01). No differences were found for the relative durations of leg-ground contact and leg swing. All the force values measured were greatest at the steepest inclination, including peak pole and leg forces, forefoot force in ground position and impulses of pole and leg push-off (all P<0.01). Elbow [EA], hip [HA] and knee [KA] angle minima, EA at pole plant, KA at ski plant and HAmaximum before push-off decreased (all P<0.01). The elbow extension range of motion [ROM] and knee (both P<0.01), as well as hip push-off extension ROM (P<0.05), increased with inclination. Angular push-off flexion velocity (P<0.01) decreased, along with higher angular push-off extension velocities in the ankle (P<0.05), knee and hip joints (both P<0.01) at steeper inclinations. Conclusion: Elite skiers adapt the DIA technique to increased inclinations through substantial changes in pole and leg kinetics and joint kinematics, with only minor changes in specific phase durations. Arm and leg actions show larger amplitudes, higher angular velocities, longer poling times, higher forces and impulses generated at higher frequencies. We suggest that XC skiers should use technique, endurance and strength training at different inclinations in order to train these aspects specifically.
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| 4. |
- Hemminki, Kari, et al.
(author)
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Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients
- 2010
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In: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 126:12, s. 2858-2862
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Journal article (peer-reviewed)abstract
- To validate common low-risk variants predisposing for breast cancer (BC) in a large set of BRCA1/2 negative familial or genetically enriched cases from Germany, we genotyped 1,415 cases and 1,830 healthy women by MALDI-TOF in 105 candidate SNPs. Significantly higher ORs than previously reported for heterozygous unselected cases were found for the minor allele in FGFR2 (OR = 1.43, 95% Cl 1.30-1.59, p-value = 1.24 x 10(-12)) and for TNRC9 (OR = 1.33, 95% Cl 1.19-1.46, p-value = 1.54 x 10(-7)). Most intriguing, however, were the ORs for homozygous carriers from high-risk families for FGFR2 (OR = 2.05, 95% Cl 1.68-2.51, LSP1 (OR = 0.49, 95% Cl 0.28-0.86) and TNRC9 (OR = 1.62, 95% Cl 1.27-2.07). Moreover, the additional validation of 99 CGEMS-SNPs identified putative novel susceptibility alleles within the LSP1 gene (OR = 0.73, 95% Cl 0.61-0.87, p-value = 5.23 x 10(-4)). Finally, we provide evidence for the first time that a low-risk variant located at 6q22.33 (rs6569479) is associated with estrogen receptor negative BC in familial cases (OR = 1.33, 95% Cl 1.06-1.66; p-value = 0.012). Our data confirm the impact of the previously identified susceptibility loci and provide preliminary evidence for novel susceptibility loci in familial BC cases and correlate them to specific histopathological subtypes defined by estrogen receptor status.
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| 5. |
- Karawita, Anjana C., et al.
(author)
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The swan genome and transcriptome, it is not all black and white
- 2023
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In: Genome Biology. - : BioMed Central (BMC). - 1465-6906 .- 1474-760X. ; 24:1
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Journal article (peer-reviewed)abstract
- BackgroundThe Australian black swan (Cygnus atratus) is an iconic species with contrasting plumage to that of the closely related northern hemisphere white swans. The relative geographic isolation of the black swan may have resulted in a limited immune repertoire and increased susceptibility to infectious diseases, notably infectious diseases from which Australia has been largely shielded. Unlike mallard ducks and the mute swan (Cygnus olor), the black swan is extremely sensitive to highly pathogenic avian influenza. Understanding this susceptibility has been impaired by the absence of any available swan genome and transcriptome information.ResultsHere, we generate the first chromosome-length black and mute swan genomes annotated with transcriptome data, all using long-read based pipelines generated for vertebrate species. We use these genomes and transcriptomes to show that unlike other wild waterfowl, black swans lack an expanded immune gene repertoire, lack a key viral pattern-recognition receptor in endothelial cells and mount a poorly controlled inflammatory response to highly pathogenic avian influenza. We also implicate genetic differences in SLC45A2 gene in the iconic plumage of the black swan.ConclusionTogether, these data suggest that the immune system of the black swan is such that should any avian viral infection become established in its native habitat, the black swan would be in a significant peril.
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| 6. |
- Koettgen, Anna, et al.
(author)
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Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
- 2013
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:2, s. 145-154
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Journal article (peer-reviewed)abstract
- Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SEMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry. We further characterized these loci for associations with gout, transcript expression and the fractional excretion of urate. Network analyses implicate the inhibins-activins signaling pathways and glucose metabolism in systemic urate control. New candidate genes for serum urate concentration highlight the importance of metabolic control of urate production and excretion, which may have implications for the treatment and prevention of gout.
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| 7. |
- Lindinger, Stefan J, et al.
(author)
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Biomechanical pole and leg characteristics during uphill diagonal rollerskiing
- 2009
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In: Sports Biomechanics. - : Informa UK Limited. - 1476-3141 .- 1752-6116. ; 8:4, s. 318-333
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Journal article (peer-reviewed)abstract
- Diagonal skiing as a major classical technique has hardly been investigated over the last two decades, although technique and racing velocities have developed substantially. The aims of the present study were to 1) analyse pole and leg kinetics and kinematics during submaximal uphill diagonal roller skiing and 2) identify biomechanical factors related to performance. Twelve elite skiers performed a time to exhaustion (performance) test on a treadmill. Joint kinematics and pole/plantar forces were recorded separately during diagonal roller skiing (98; 11 km/h). Performance was correlated to cycle length (r ¼ 0.77; P , 0.05), relative leg swing (r ¼ 0.71), and gliding time (r ¼ 0.74), hip flexion range of motion (ROM) during swing (r ¼ 0.73) and knee extension ROM during gliding (r ¼ 0.71). Push-off demonstrated performance correlations for impulse of leg force (r ¼ 0.84), relative duration (r ¼ 20.76) and knee flexion (r ¼ 0.73) and extension ROM (r ¼ 0.74). Relative time to peak pole force was associated with performance (r ¼ 0.73). In summary, diagonal roller skiing performance was linked to 1) longer cycle length, 2) greater impulse of force during a shorter push-off with larger flexion/extension ROMs in leg joints, 3) longer leg swing, and 4) later peak pole force, demonstrating the major key characteristics to be emphasised in training.
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| 8. |
- Lindinger, Stefan J, et al.
(author)
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Changes in upper body muscle activity with increasing double poling velocities in elite cross-country skiing
- 2009
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In: European Journal of Applied Physiology. - : Springer Science and Business Media LLC. - 1439-6319 .- 1439-6327. ; 106:3, s. 353-363
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Journal article (peer-reviewed)abstract
- The purpose of this study was to investigate whether the stretch-shortening cycle (SSC) contraction is integrated in neuromuscular activation in upper body muscles during double poling in cross-country skiing. Thirteen elite skiers performed double poling roller-skiing at increasing treadmill velocities of 9, 15, 21, 27 km h(-1) and their individual maximal velocity. Elbow angle, axial pole force and surface EMG in the triceps brachii, pectoralis major, latissimus dorsi and teres major muscle were recorded. Increases in peak pole force, rate of force development and elbow flexion angular velocities were identified (P < 0.05). The mean MVC-normalized EMG amplitudes increased during the pre-activation phase before pole plant, elbow flexion and the reflex-mediated phase between 30 and 120 ms after pole plant due to velocity increases (P < 0.05). It is thus suggested that elite cross-country skiers use SSC during double poling, particularly in the triceps muscle in order to generate high forces.
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| 9. |
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| 10. |
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| 11. |
- Mueller, Ralf C., et al.
(author)
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A high-quality genome and comparison of short-versus long-read transcriptome of the palaearctic duck Aythya fuligula (tufted duck)
- 2021
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In: GigaScience. - : Oxford University Press. - 2047-217X. ; 10:12
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Journal article (peer-reviewed)abstract
- Background: The tufted duck is a non-model organism that experiences high mortality in highly pathogenic avian influenza outbreaks. It belongs to the same bird family (Anatidae) as the mallard, one of the best-studied natural hosts of low-pathogenic avian influenza viruses. Studies in non-model bird species are crucial to disentangle the role of the host response in avian influenza virus infection in the natural reservoir. Such endeavour requires a high-quality genome assembly and transcriptome.Findings: This study presents the first high-quality, chromosome-level reference genome assembly of the tufted duck using the Vertebrate Genomes Project pipeline. We sequenced RNA (complementary DNA) from brain, ileum, lung, ovary, spleen, and testis using Illumina short-read and Pacific Biosciences long-read sequencing platforms, which were used for annotation. We found 34 autosomes plus Z and W sex chromosomes in the curated genome assembly, with 99.6% of the sequence assigned to chromosomes. Functional annotation revealed 14,099 protein-coding genes that generate 111,934 transcripts, which implies a mean of 7.9 isoforms per gene. We also identified 246 small RNA families.Conclusions: This annotated genome contributes to continuing research into the host response in avian influenza virus infections in a natural reservoir. Our findings from a comparison between short-read and long -read reference transcriptomics contribute to a deeper understanding of these competing options. In this study, both technologies complemented each other. We expect this annotation to be a foundation for further comparative and evolutionary genomic studies, including many waterfowl relatives with differing susceptibilities to avian influenza viruses.
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| 12. |
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| 13. |
- Schumann, Gunter, et al.
(author)
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Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption
- 2011
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In: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 108:17, s. 7119-7124
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Journal article (peer-reviewed)abstract
- Alcohol consumption is a moderately heritable trait, but the genetic basis in humans is largely unknown, despite its clinical and societal importance. We report a genome-wide association study meta-analysis of similar to 2.5 million directly genotyped or imputed SNPs with alcohol consumption (gram per day per kilogram body weight) among 12 population-based samples of European ancestry, comprising 26,316 individuals, with replication genotyping in an additional 21,185 individuals. SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 x 10(-8) to P = 4 x 10(-9)). We found a genotype-specific expression of AUTS2 in 96 human prefrontal cortex samples (P = 0.026) and significant (P < 0.017) differences in expression of AUTS2 in whole-brain extracts of mice selected for differences in voluntary alcohol consumption. Downregulation of an AUTS2 homolog caused reduced alcohol sensitivity in Drosophila (P < 0.001). Our finding of a regulator of alcohol consumption adds knowledge to our understanding of genetic mechanisms influencing alcohol drinking behavior.
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| 14. |
- Soehnlein, Quirin, et al.
(author)
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THE EFFECT OF 16-WEEK PLYOMETRIC TRAINING ON EXPLOSIVE ACTIONS IN EARLY TO MID-PUBERTY ELITE SOCCER PLAYERS
- 2014
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In: Journal of Strength and Conditioning Research. - 1064-8011 .- 1533-4287. ; 28:8, s. 2105-2114
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Journal article (peer-reviewed)abstract
- Plyometric training (PT) programs are widely used to improve explosive actions in soccer players of various ages, although there is debate about optimal training duration and time course of improvement. Twenty-two early to mid-puberty elite soccer players were assigned to a control group (CG, n = 10, regular soccer training) or a plyometric training group (PTG, n = 12, regular soccer training substituted with 2 PT sessions each week). Both groups trained for 16 weeks during the in-season period. Control group performed only tests at baseline and after intervention, whereas PTG performed additional tests after 4, 8, and 12 weeks. During each test, subjects' performances in speed (10 and 30 m; 5 and 20 m), agility, shuttle run, multiple 5 bounds (MB5), and standing long jump (LJ) were recorded. The PTG showed improved performance in 20-m sprint time (-3.2%), agility time (-6.1%), MB5 distance (+11.8%), and LJ distance (+7.3%) (all, p <= 0.05) after 16 weeks. All these improvements were higher compared with CG (all, p <= 0.05). The time course of improvement in the PT group showed that 20-m sprint time improved after 16 weeks (p = 0.012); agility after 4 (p = 0.047) and 8 weeks (p = 0.004) but stopped after 12 weeks (p = 0.007); MB5 after 8 (p = 0.039), 12 (p = 0.028), and 16 weeks (p < 0.001); and LJ improved after 4 (p = 0.045), 12 (p = 0.008), and 16 weeks (p < 0.001). Plyometric training seems to be an appropriate training tool to enhance some but not all explosive actions. The results indicate that the duration of a PT program is highly dependent on what type of explosive actions should be improved, or whether several explosive actions should be improved at the same time.
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| 15. |
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| 16. |
- Stöggl, Thomas, et al.
(author)
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General strength and kinetics: fundamental to sprinting faster in cross country skiing?
- 2011
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In: Scandinavian Journal of Medicine and Science in Sports. - : Wiley. - 0905-7188 .- 1600-0838. ; 21:6, s. 791-803
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Journal article (peer-reviewed)abstract
- To determine relationships between general strength, maximal skiing speed (16 male elite skiers underwent three double poling, diagonal stride and V2 on a treadmill. The analyzed skiing speeds and leg and arm kinetics were among the highest ever recorded. Relationships between general strength exercises and Power output in bench press and bench pull were related to maximum was related to V2. Isometric squats were not associated with height and rate of force development during squat jump Vmax), pole and leg kinetics and kinematics,Vmax tests inVmax were technique dependent.Vmax in DP and diagonal stride, whereas each 1 repetitionVmax in all three techniques, whereas jump were. Analysis of kinetics and kinematics revealed that it was not exclusively the magnitude of applied forces during skiing, but the timing and proper instant of force application were major factors discriminating between faster and slower skiers. For all techniques, the faster skiers used different skiing strategies when approaching with the slower skiers. General strength and power Vmax when compared per se seem not to be major determinants of performance in elite skiers, whereas coordination of these capacities within the different and complex skiing movements seems to be the discriminating factor.
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| 17. |
- Stöggl, Thomas, et al.
(author)
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Relationships between body composition, body dimensions, and peak speed in cross-country sprint skiing
- 2010
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In: Journal of Sports Sciences. - : Routledge, Travel & Francis group. - 0264-0414 .- 1466-447X. ; 28:2, s. 161-169
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Journal article (peer-reviewed)abstract
- In modern sprint cross-country skiing, strength and maximal speed are major determinants of performance. The aims of this study were to ascertain the anthropometric characteristics of world-class sprint skiers and to evaluate whether a specific bodycomposition and/or body dimension characterizes a successful sprint skier. Our hypothesis was that body height and leanbody mass are related to peak speed in double poling and diagonal stride. Fourteen male national and international elite skiers performed two peak speed tests in double poling and diagonal stride roller skiing on a treadmill and were analysed using dual-energy X-ray absorptiometry to determine body composition and body dimensions. Relative pole length was positively correlated with both techniques (double poling: only variable that was part of the multiple regression model for both double poling and diagonal stride peak speed. Body height was not correlated with any technique, whereas lean trunk mass (r¼0.77, P50.01; diagonal stride: r¼0.60, P50.05) and was ther¼0.75, P50.01), body mass index (r¼0.66, Ppeak speed. Total lean mass (absolute:arms (both conclusion, skiers should aim to achieve a body composition with a high percentage of lean mass and low fat mass. A focus on trunk mass through increased muscle mass appears to be important, especially for double poling. The use of longer poles (percent body height) seems to be advantageous for both double poling and diagonal stride peak speed, whereas body dimensions do not appear to be a predictive factor.50.01), total lean mass (r¼0.69, P50.01), and body mass (r¼0.57, P50.05) were positively related to double polingr¼0.58, P50.05; relative: r¼0.76, P50.001) and relative lean mass of the trunk,r¼0.72, P50.01), and legs (r¼0.54, P50.05) were positively related to diagonal stride peak speed. In conclusion, skiers should aim to achieve a body composition with a high percentage of lean mass and low fat mass. A focus on trunk mass through increased muscle mass appears to be important, especially for double poling. The use of longer poles (percent body height) seems to be advantageous for both double poling and diagonal stride peak speed, whereas body dimensions do not appear to be a predictive factor.
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| 18. |
- Stöggl, Thomas, et al.
(author)
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Sprint competitions and maximal speed in cross-country skiing - a physiobiomechanical update
- 2009
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In: Proceedings of 14th Annual Congress of the European College of Sport Science. - 9788250204201
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Conference paper (peer-reviewed)abstract
- Due to the recent introduction of sprint races and an increasing number of mass start competitions in the World Cup series, new aspects of training and testing are becoming fields of research. This could be attributed to the upcoming specialization of athletes in sprint racing, as well as to the technical modifications demonstrated for selected techniques, eg. double poling (Holmberg et al. 2005) and doublepush skating (Stöggl et al. 2008a). Both technical modifications were found to be superior to the conventional skiing style. In addition, the mean skiing velocity in WC sprint races has shown a steady increase in skiing speed (Stöggl et al. 2008b), reaching mean race speeds of up to 9.5m/s in classical style and up to 10m/s in skating. It should be noted that skiing speeds in the majority of scientific studies are quite apart to these values. It was demonstrated that there is a moderate to high correlation between sprint performance and performance in distance races (Stöggl et al. 2008b). It was recently shown that short duration maximal skiing speed and specific maximal and explosive strength are good predictors of cross-country skiing sprint performance (Stöggl et al. 2007a,b 2009). Interestingly it was found that skiers with higher maximal power output and maximal skiing speeds showed, in addition to their higher performance, less fatigue during all-out tests of the same duration as a sprint race. These results may be coupled to the prerequisites of modern sprint techniques, as characterized by high peak forces and high force impulses over a short time. The combination of high force output over a short time and thus a longer recovery time was found to be faster and more economical (Holmberg et al. 2005; Stöggl & Müller 2009). Furthermore, it was found that cycle length but not cycle rate was related to performance, especially at submaximal velocities. This was particularly true of the V2 technique and diagonal stride, whereas in double-poling there seems to be an optimum cycle length and cycle rate pattern (Stöggl & Müller 2009). Measures of aerobic capacity (VO2max) showed only low correlations to sprint performance. However, it should be noted that a high level of VO2max should be the basis but also that other factors that are mainly associated with neuromuscular factors and anaerobic capacity discriminate between weak and strong sprint skiers. These findings should lead to a reconsideration of concepts in the training and testing of cross-country skiers. In addition to common VO2max and incremental step tests, also strength and speed tests should be included. Maximal and explosive strength training sessions could also be useful additions to conventional aerobic and strength endurance training.
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| 19. |
- Taal, H. Rob, et al.
(author)
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Common variants at 12q15 and 12q24 are associated with infant head circumference
- 2012
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:5, s. 532-538
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Journal article (peer-reviewed)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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