Association between MAPT polymorphism but not APOE promoter and elite rugby athlete status

INTRODUCTION: Incidence and outcomes of concussions have been hypothesised to be genetically influenced. The APOE Promoter G219T (rs405509) polymorphism has been associated with differential promoter activity and unfavourable outcomes after traumatic brain injury. The TT genotype is associated with a 3-fold greater risk of multiple concussions. The TT genotype of MAPT (rs10445337) has also been associated with poorer outcomes after concussion. Rugby has one of the highest incidences of concussion in sport, so it was hypothesised that APOE Promoter TT and MAPT TT genotypes would be less prevalent in elite rugby athletes because those genotypes, previously associated with increased risk, would be less compatible with achieving elite athlete status. METHODS: Participants were from the RugbyGene project, comprising elite Caucasian male rugby athletes (n = 528; mean (standard deviation) height 1.85 (0.07) m, mass 101 (14) kg, age 29 (7) yr), including 420 rugby union (RU) athletes that for some analyses were divided into forwards and backs and 108 rugby league (RL) athletes. Non-athletes were 592 Caucasian men and women (57% male, height 1.72 (0.10) m, mass 74 (14) kg, age 31 (7) yr). PCR of genomic DNA was used to determine genotypes using TaqMan probes, then groups were compared using χ2 and odds ratio (OR) statistics. RESULTS: All genotype data were in Hardy-Weinberg equilibrium. For MAPT (rs10445337), the risk genotype (TT) was underrepresented in rugby athletes (60%) compared to non-athletes (66%), CT more common in rugby athletes (34%) than non-athletes (29%) and little difference in CC genotype frequencies (χ2 = 7.092, P = 0.029; TT genotype frequency OR = 0.80, 95% confidence intervals (CI) = 0.62-1.02). There were no differences in MAPT (rs10445337) genotype frequencies between RU forwards and backs. For APOE Promoter G219T (rs405509), there were no differences in genotype frequencies between all athletes (RU and RL) and non-athletes (27% TT genotype in players and non-athletes), nor between RU forwards and backs. CONCLUSION: The MAPT (rs10445337) TT genotype is 6% less common in elite rugby athletes than non-athletes. Therefore, carrying at least one rs10445337 C allele appears to increase the probability of sustained career success in the high-risk concussion environment of elite rugby, perhaps via a greater ability to recover from concussions.Peer reviewe

Association of MMP3 but not TIMP2 gene variants with elite rugby player status and rugby code

Introduction: Achilles tendon pathology and anterior cruciate ligament rupture are multifactorial conditions for which genetic risk factors have been identified. Single nucleotide polymorphisms (SNPs) within the MMP3 (rs591058, rs679620, rs650108) and TIMP2 (rs4789932) genes have previously been associated with tendon and ligament pathologies. Although not entirely clear, prior literature indicates the risk alleles for Achilles tendon pathology as T (rs591058), G (rs679620) and A (rs650108) for MMP3. However, prior evidence regarding TIMP2 is equivocal. MMP3 is considered an essential regulator of matrix degradation and remodelling within diseased and normal musculoskeletal soft tissues. TIMP2 maintains homeostasis in the extracellular matrix in part by inhibiting MMP function. Given the high incidence and severity of tendon and ligament injuries in elite rugby athletes, we hypothesised that the aforementioned SNPs would be associated with career success. Methods: Participants from the RugbyGene project were elite Caucasian male rugby athletes (n = 566; mean (standard deviation) height 1.85 (0.07) m, mass 101 (14) kg, age 29 (7) yr), including 420 rugby union (RU) athletes that for some analyses were divided into forwards and backs and 120 rugby league (RL) athletes. Non-athletes were 589 Caucasian men and women (n = 589, 57% male, height 1.72 (0.10) m, mass 74 (14) kg, age 31 (7) yr). PCR of genomic DNA was used to determine genotypes using TaqMan probes, then groups were compared using Χ2 and odds ratio (OR) statistics. Results: As hypothesized, the MMP3 rs591058 risk genotype (TT) was less frequent in rugby athletes (28%) compared to non-athletes (33%) (Χ2 = 7.265, P = 0.026; OR = 1.18, 95% confidence intervals (CI) = 0.86-1.63). No differences were found for MMP3 rs679620, rs650108 or TIMP2 rs4789932 between rugby athletes and non-athletes. When RL athletes were compared to non-athletes, the risk genotype (TT) of MMP3 rs591058 was underrepresented in RL athletes (19%) compared to non-athletes (33%). The MMP3 rs679620 ‘protective’ allele (C) was more frequent in RL athletes (55%) compared to non-athletes (48%) (OR = 1.3, 95% CI = 0.98-1.74). However, for MMP3 rs650108 the ‘risk’ allele (A) was overrepresented in RL athletes (32%) compared to non-athletes (26%). There were no genotype differences for any gene variant between RU athletes and non-athletes. The ‘risk’ allele (T) of the MMP3 rs679629 polymorphism and the ‘protective’ allele (G) of the MMP3 rs650108 polymorphism were less common in RL (45%, 68%, respectively) than RU athletes (54%, 76%, respectively). Conclusion: We provide evidence for elite rugby athletes possessing a protective genetic profile regarding tendon and ligament injury risk. Notably, a less frequent rs591058 TT genotype in athletes suggests a lower risk of injury could therefore enhance career success in rugby. Furthermore, RL players appear to have differing genetic characteristics compared to their RU counterparts, which might reflect some differences in physiological demands between codes.Peer reviewedFinal Published versio

Two types of nematicity in the phase diagram of the cuprate superconductor YBa2_2Cu3_3Oy_y

Nematicity has emerged as a key feature of cuprate superconductors, but its link to other fundamental properties such as superconductivity, charge order and the pseudogap remains unclear. Here we use measurements of transport anisotropy in YBa$_2$Cu$_3$O$_y$ to distinguish two types of nematicity. The first is associated with short-range charge-density-wave modulations in a doping region near $p = 0.12$. It is detected in the Nernst coefficient, but not in the resistivity. The second type prevails at lower doping, where there are spin modulations but no charge modulations. In this case, the onset of in-plane anisotropy - detected in both the Nernst coefficient and the resistivity - follows a line in the temperature-doping phase diagram that tracks the pseudogap energy. We discuss two possible scenarios for the latter nematicity.Comment: 8 pages and 7 figures. Main text and supplementary material now combined into single articl

Antenna-coupled TES bolometer arrays for CMB polarimetry

We describe the design and performance of polarization selective antenna-coupled TES arrays that will be used in several upcoming Cosmic Microwave Background (CMB) experiments: SPIDER, BICEP-2/SPUD. The fully lithographic polarimeter arrays utilize planar phased-antennas for collimation (F/4 beam) and microstrip filters for band definition (25% bandwidth). These devices demonstrate high optical efficiency, excellent beam shapes, and well-defined spectral bands. The dual-polarization antennas provide well-matched beams and low cross polarization response, both important for high-fidelity polarization measurements. These devices have so far been developed for the 100 GHz and 150 GHz bands, two premier millimeter-wave atmospheric windows for CMB observations. In the near future, the flexible microstrip-coupled architecture can provide photon noise-limited detection for the entire frequency range of the CMBPOL mission. This paper is a summary of the progress we have made since the 2006 SPIE meeting in Orlando, FL

Antenna-coupled TES bolometer arrays for CMB polarimetry

We describe the design and performance of polarization selective antenna-coupled TES arrays that will be used in several upcoming Cosmic Microwave Background (CMB) experiments: SPIDER, BICEP-2/SPUD. The fully lithographic polarimeter arrays utilize planar phased-antennas for collimation (F/4 beam) and microstrip filters for band definition (25% bandwidth). These devices demonstrate high optical efficiency, excellent beam shapes, and well-defined spectral bands. The dual-polarization antennas provide well-matched beams and low cross polarization response, both important for high-fidelity polarization measurements. These devices have so far been developed for the 100 GHz and 150 GHz bands, two premier millimeter-wave atmospheric windows for CMB observations. In the near future, the flexible microstrip-coupled architecture can provide photon noise-limited detection for the entire frequency range of the CMBPOL mission. This paper is a summary of the progress we have made since the 2006 SPIE meeting in Orlando, FL

Anisotropy of the Seebeck Coefficient in the Cuprate Superconductor YBa2_{2}Cu3_{3}Oy_{y}: Fermi-Surface Reconstruction by Bidirectional Charge Order

The Seebeck coefficient $S$ of the cuprate YBa$_{2}$Cu$_{3}$O$_{y}$ was measured in magnetic fields large enough to suppress superconductivity, at hole dopings $p = 0.11$ and $p = 0.12$, for heat currents along the $a$ and $b$ directions of the orthorhombic crystal structure. For both directions, $S/T$ decreases and becomes negative at low temperature, a signature that the Fermi surface undergoes a reconstruction due to broken translational symmetry. Above a clear threshold field, a strong new feature appears in $S_{\rm b}$, for conduction along the $b$ axis only. We attribute this feature to the onset of 3D-coherent unidirectional charge-density-wave modulations seen by x-ray diffraction, also along the $b$ axis only. Because these modulations have a sharp onset temperature well below the temperature where $S/T$ starts to drop towards negative values, we infer that they are not the cause of Fermi-surface reconstruction. Instead, the reconstruction must be caused by the quasi-2D bidirectional modulations that develop at significantly higher temperature.Comment: 7 pages, 5 figure

Direct Numerical Simulations of Type Ia Supernovae Flames II: The Rayleigh-Taylor Instability

A Type Ia supernova explosion likely begins as a nuclear runaway near the center of a carbon-oxygen white dwarf. The outward propagating flame is unstable to the Landau-Darrieus, Rayleigh-Taylor, and Kelvin-Helmholtz instabilities, which serve to accelerate it to a large fraction of the speed of sound. We investigate the Rayleigh-Taylor unstable flame at the transition from the flamelet regime to the distributed-burning regime, around densities of $10^7$ g/cc, through detailed, fully resolved simulations. A low Mach number, adaptive mesh hydrodynamics code is used to achieve the necessary resolution and long time scales. As the density is varied, we see a fundamental change in the character of the burning--at the low end of the density range the Rayleigh-Taylor instability dominates the burning, whereas at the high end the burning suppresses the instability. In all cases, significant acceleration of the flame is observed, limited only by the size of the domain we are able to study. We discuss the implications of these results on the potential for a deflagration to detonation transition.Comment: submitted to ApJ, some figures degraded due to size constraint

Quasiparticle Trapping in Microwave Kinetic Inductance Strip Detectors

Microwave Kinetic Inductance Detectors (MKIDs) are thin-film, superconducting resonators, which are attractive for making large detector arrays due to their natural frequency domain multiplexing at GHz frequencies. For X-ray to IR wavelengths, MKIDs can provide high-resolution energy and timing information for each incoming photon. By fabricating strip detectors consisting of a rectangular absorber coupled to MKIDs at each end, high quantum efficiency and spatial resolution can be obtained. A similar geometry is being pursued for phonon sensing in a WIMP dark matter detector. Various materials have been tested including tantalum, tin, and aluminum for the absorbing strip, and aluminum, titanium, and aluminum manganese for the MKID. Initial Ta/Al X-ray devices have shown energy resolutions as good as 62 eV at 6 keV. A Ta/Al UV strip detector with an energy resolution of 0.8 eV at 4.9 eV has been demonstrated, but we find the coupling of the MKIDs to the absorbers is unreliable for these thinner devices. We report on progress probing the thicknesses at which the absorber/MKID coupling begins to degrade by using a resonator to inject quasiparticles directly into the absorber. In order to eliminate the absorber/MKID interface, a modified design for implanted AlMn/Al UV strip detectors was developed, and results showing good transmission of quasiparticles from the absorber to MKID in these devices are presented

Quantifying uncertainty in acoustic measurements of tidal flows using a ‘Virtual’ Doppler Current Profiler

This is the author accepted manuscript. The final version is available from Elsevier via the DOI in this record.Accurate characterisation of flows at tidal sites can enable the developers of tidal stream energy projects to design and model the loads on, and the performance of, tidal energy converters. Acoustic Doppler technology is versatile in the measurement of sea conditions; however, this technology can be limited in its effectiveness at measuring the small-scale kinematic fluctuations caused by waves and turbulence. A Virtual Doppler Current Profiler (VDCP) is used to sample a simulated tidal flow to understand the limitations of this type of measurement instrument whilst recording the small timescale kinematics of waves and turbulence in tidal currents. Results demonstrate the phase dependency of velocity measurements averaged between two acoustic beams and provide a theoretical error for wave and turbulence characteristics sampled under a range of conditions. Spectral moments of the subsurface longitudinal wave orbital velocities recorded by the VDCP can be between 0.1 and 9 times those measured at a point for certain turbulent current conditions, turbulence intensity measurements may vary between 0.2 and 1.5 times the inputted value in low wave conditions and turbulence length scale calculation can also vary hugely dependent on both current and wave conditions. The continuation of this work will enable effective comparison of a linear model for tidal flow kinematics against field measurements from UK tidal site data, and subsequently validate numerical models for the testing of tidal turbines.This work was supported by the Industrial Centre for Offshore Renewable Energy (IDCORE) with funding from the Energy Technologies Institute and the Research Councils Energy Programme [grant number EP/J500847/1] and DNV GL