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The COllaborative project of Development of Anthropometrical measures in Twins (CODATwins) project is a large international collaborative effort to analyze individual-level phenotype data from twins in multiple cohorts from different environments. The main objective is to study factors that modify genetic and environmental variation of height, body mass index (BMI, kg/m2) and size at birth, and additionally to address other research questions such as long-term consequences of birth size. The project started in 2013 and is open to all twin projects in the world having height and weight measures on twins with information on zygosity. Thus far, 54 twin projects from 24 countries have provided individual-level data. The CODATwins database includes 489,981 twin individuals (228,635 complete twin pairs). Since many twin cohorts have collected longitudinal data, there is a total of 1,049,785 height and weight observations. For many cohorts, we also have information on birth weight and length, own smoking behavior and own or parental education. We found that the heritability estimates of height and BMI systematically changed from infancy to old age. Remarkably, only minor differences in the heritability estimates were found across cultural–geographic regions, measurement time and birth cohort for height and BMI. In addition to genetic epidemiological studies, we looked at associations of height and BMI with education, birth weight and smoking status. Within-family analyses examined differences within same-sex and opposite-sex dizygotic twins in birth size and later development. The CODATwins project demonstrates the feasibility and value of international collaboration to address gene-by-exposure interactions that require large sample sizes and address the effects of different exposures across time, geographical regions and socioeconomic status.
This paper presents a review of the current status of photodiode array systems adapted for Energy Dispersive EXAFS (EDE) using a synchrotron radiation source. The performance of a conventional Reticon PDA is compared with that of a hybrid CCD. The specification of a new detector system for EDE is discussed in the light of experience gained with current linear detectors.
Whether monozygotic (MZ) and dizygotic (DZ) twins differ from each other in a variety of phenotypes is important for genetic twin modeling and for inferences made from twin studies in general. We analyzed whether there were differences in individual, maternal and paternal education between MZ and DZ twins in a large pooled dataset. Information was gathered on individual education for 218,362 adult twins from 27 twin cohorts (53% females; 39% MZ twins), and on maternal and paternal education for 147,315 and 143,056 twins respectively, from 28 twin cohorts (52% females; 38% MZ twins). Together, we had information on individual or parental education from 42 twin cohorts representing 19 countries. The original education classifications were transformed to education years and analyzed using linear regression models. Overall, MZ males had 0.26 (95% CI [0.21, 0.31]) years and MZ females 0.17 (95% CI [0.12, 0.21]) years longer education than DZ twins. The zygosity difference became smaller in more recent birth cohorts for both males and females. Parental education was somewhat longer for fathers of DZ twins in cohorts born in 1990–1999 (0.16 years, 95% CI [0.08, 0.25]) and 2000 or later (0.11 years, 95% CI [0.00, 0.22]), compared with fathers of MZ twins. The results show that the years of both individual and parental education are largely similar in MZ and DZ twins. We suggest that the socio-economic differences between MZ and DZ twins are so small that inferences based upon genetic modeling of twin data are not affected.
Dislocation/grain-boundary (GB) interactions have been studied in situ in polycrystalline ice using synchrotron X-ray topography in the temperature range 0° to –15°C GBs were observed to act both as sources of lattice dislocations and as strong obstacles to dislocation motion. Dislocations were observed to form pile-ups at GBs upon loading. Generally the basal slip system with the highest Schmid factor was found to be the most active, and dislocations were emitted from GB facets as semi-hexagonal loops in order to relieve the stress build-up from GB sliding. When the relative orientation of two adjacent grains and the orientation of the GB between them with respect to the loading direction discouraged GB sliding, thus suppressing dislocation nucleation at the GB, dislocations originating in one grain piled up at the GB and led to slip transmission through the GB The latter geometrical arrangement is rarely encountered, suggesting that slip transmission through grain boundaries in ice is a rare event. When basal slip was suppressed, i.e. when the loading direction lay in the basal plane, slip occurred by the glide of a fast edge segment on non-basal planes.
Firn microstructure is accurately characterized using images obtained from scanning electron microscopy (SEM). Visibly etched grain boundaries within images are used to create a skeleton outline of the microstructure. A pixel-counting utility is applied to the outline to determine grain area. Firn grain sizes calculated using the technique described here are compared to those calculated using the techniques of Gow (1969) and Gay and Weiss (1999) on samples of the same material, and are found to be substantially smaller. The differences in grain size between the techniques are attributed to sampling deficiencies (e.g. the inclusion of pore filler in the grain area) in earlier methods. The new technique offers the advantages of greater accuracy and the ability to determine individual components of the microstructure (grain and pore), which have important applications in ice-core analyses. The new method is validated by calculating activation energies of grain boundary diffusion using predicted values based on the ratio of grain-size measurements between the new and existing techniques. The resulting activation energy falls within the range of values previously reported for firn/ice.
While glacier fabric reflects the accumulated strain, detailed azimuthal information is required to link the microstructure to the flow, and this is not easily gathered at depth. Borehole logging provides a way to obtain a log of azimuthal orientation of tilted stratigraphic features that can be used to orient the core with respect to glacier flow. We demonstrate this using acoustic borehole logs and the ice core from a 162 m borehole in Upper Fremont Glacier, Wind River Range, Wyoming, USA. We measured the dip of tilted dust and bubble layers in the actual ice core, identified them on the borehole log, then used their strike to orient the core sections containing them. We examined the crystal orientation fabric of our samples, using electron backscatter diffraction in a scanning electron microscope. When we compared the orientation of the tilted layers in some samples with the fabric, we found that the normal to the foliation and the c-axes maxima both pointed in the direction of maximum shear stress. This illustrates the usefulness of borehole logs for orienting ice cores after removal from the borehole, and for developing a better understanding of fabric development.
In order to examine the effects of solutes on recrystallization and subsequent grain growth in ice, both doped and undoped ice single crystals were extruded through a 120° equal-channel angular extrusion jig, in order to impart a large shear strain (∼1.15). Upon subsequent annealing at −3°C, the original single crystals recrystallized, in most cases to a new single crystal with a different orientation. Increasing the solute concentration (for H2SO4 to ∼200–300 ppb, and for NaCl, KCl and MgSO4 to >5 ppm) was found to significantly retard the growth and possibly, for H2SO4-doped ice, the nucleation of new grains in the strained ice single crystals. This is indicative of how soluble impurities can retard grain growth in ice cores. It was also found that the migrating grain boundaries surrounding the newly formed grains contained large concentrations of impurities, often observed as filaments. These could have formed by the grain boundaries sweeping up impurities from the lattice into the boundary or by their diffusion to the boundary – mechanisms whereby impurities could be concentrated into the grain boundaries in ice cores – although the latter mechanism seems unlikely since it would require very high diffusion rates.
Single crystals with a wide variety of orientations were cut from large pucks of laboratory-grown ice. Constant-strain-rate compression tests were performed on the crystals either at an axial strain rate of 1 × 10−5 s−1at –20°C or at axial strain rates from 1 × 10−6 s−1 to 1 × 10−4 s−1 at –10°C. In agreement with previous studies of ice flow, the compression tests showed a linearly rising stress with increasing strain, followed by a sharply declining stress after reaching a peak. With further strain, the sharp decline in stress slowed and the flow stress approached a plateau that was only weakly dependent on strain. For all crystallographic orientations, it was found that Schmid’s (critical resolved shear stress) law was obeyed by the peak stress. Slip lines clearly showed that basal slip was the deformation mode.
The microstructures and microchemistry of four US International Trans-Antarctic Scientific Expedition ice cores were examined, at three depths (30, 60, 90 m) each, using scanning electron microscopy, including electron backscattered patterns and energy-dispersive spectroscopy (EDS), in order to assess the relationship between chemical and physical properties. The physical characteristics (grain size, porosity, density, internal surface volume, and crystallographic orientation) at the four sites were inhomogeneous, as expected on the basis of differences in the moisture content of deposited snow and the accumulation rate at their respective locations. Evidence of shallow subgrain boundary formation and trends in internal surface volume, having implications for the study of firn densification and ice-sheet modeling, were also found. Chemical characterization revealed that site-specific variations in particulate concentration and source could accurately be determined using EDS analysis. It was also found that the combination of elements predominant within the sample controls the morphology and microstructural location of the impurities.
An in-depth analysis of seven samples from the Siple Dome (Antarctica) ice core, using optical microscopy and electron backscatter diffraction, illustrates rotational recrystallization or polygonization in the fine-grained region of the core between 700 and 800 m. Between 640 and 700 m, the microstructure is characterized by a bimodal grain-size distribution and a broken girdle fabric with evidence of polygonization. From 727 to 770 m, mean grain size decreases and a single-maximum fabric is found, and, by 790 m, mean grain size has again increased and a multiple-maxima fabric manifests itself. We compare grain-size distribution, c- and a-axis orientation, and misorientation between adjacent grains. We found that misorientations between adjacent grains in the 727–770 m region were predominantly low-angle and typically around a common a-axis, suggesting polygonization. This conclusion is supported by radar evidence of a physical disturbance at 757 m, which may be correlated with higher than usual strain in the 700–800 m range. Below 770 m, larger less regular misorientations and textural evidence show that migration recrystallization is the primary recrystallization mechanism.
Ice single crystals of various orientations containing various concentrations of H2SO4 up to 11.5 ppm were cut from large pucks of laboratory-grown ice. Constant-strain-rate compression tests were performed on the doped ice crystals both at −20°C at an axial strain rate of 1 × 10−5 s−1 and at −10°C at 1 × 106 s−1. The stress–strain curves showed a linearly rising stress with increasing strain, followed by a sharply declining stress after reaching a peak. With further strain, the sharp decline in stress slowed. The tests clearly showed, for the first time, that this naturally occurring impurity dramatically decreases both the peak stress and the subsequent flow stress of ice single crystals. The decrease in the peak strength was related to the square root of the concentration of H2SO4 up to 11.5 ppm, suggesting that the solubility limit of H2SO4 in ice is at least 11.5 ppm. The sulfuric acid also appeared to increase the ductility of the ice. Preliminary examination of a doped ice single crystal by synchrotron X-ray topography suggested that sulfuric acid dramatically increases the grown-in dislocation density.
We present a microstructural characterization of fine-grained layers from the top 90 m of firn from Summit, Greenland, performed using a combination of scanning electron microscopy techniques including secondary electron imaging, energy-dispersive spectroscopy and electron backscattered patterns, and X-ray microcomputed tomography. The impurities in the firn, both soluble impurities and dust particles, were found largely in the grain interiors. Both c- and a-axis pole figures do not show strong evidence of a preferred orientation of the grains even at the bottom of the firn column. The firn structure became increasingly anisotropic with vertical alignment in the top 3 m, probably due to vapor transport associated with dry-snow metamorphism. The anisotropy decreases below this level until at ∼50 m the average firn structure is close to isotropic. In the near surface, the level of anisotropy is weaker than at Hercules Dome, Antarctica, confirming that differences in accumulation rates and temperatures leave enduring evidence in the structure of the firn. The fraction of closed-off pores is relatively low until ∼65 m; below that it rises through the end of our sampling at 90 m. Our microstructure measurements on the microscale are consistent with in situ firn-air sampling measurements on a decimeter scale, both indicating the existence of the lock-in zone starting near 69 m depth, and pore close-off at 81 m at this site.
The following list comprises measurements made since those reported in NPL III and is complete to the end of November 1965.
Ages are relative to A.D. 1950 and are calculated using a half-life of 5568 yr. The measurements, corrected for fractionation (quoted δC13 values are relative to the P.D.B. standard), are referred to 0.950 times the activity of the NBS oxalic acid as contemporary reference standard. The quoted uncertainty is one standard deviation derived from a proper combination of the parameter variances as described in detail in NPL III. These variances are those of the standard and background measurements over a rolling twenty week period, of the sample δC14 and δC13 measurements and of the de Vries effect (assumed to add an additional uncertainty equivalent to a standard deviation of 80 yr). Any uncertainty in the half-life has been excluded so that relative C14 ages may be correctly compared. Absolute age assessments, however, should be made using the accepted best value for the half-life and the appropriate uncertainty then included. If the net sample count rate is less than 4 times the standard error of the difference between the sample and background count rates, a lower limit to the age is reported corresponding to a net sample count rate of 4 times the standard error of this difference.
Prior research has suggested benefits of aerobic physical activity (PA) on cognition and brain volumes in HIV uninfected (HIV-) individuals, however, few studies have explored the relationships between PA and brain integrity (cognition and structural brain volumes) in HIV-infected (HIV+) individuals. Seventy HIV+ individuals underwent neuropsychological testing, structural neuroimaging, laboratory tests, and completed a PA questionnaire, recalling participation in walking, running, and jogging activities over the last year. A PA engagement score of weekly metabolic equivalent (MET) hr of activity was calculated using a compendium of PAs. HIV+ individuals were classified as physically active (any energy expended above resting expenditure, n=22) or sedentary (n=48). Comparisons of neuropsychological performance, grouped by executive and motor domains, and brain volumes were completed between groups. Physically active and sedentary HIV+ individuals had similar demographic and laboratory values, but the active group had higher education (14.0 vs. 12.6 years, p=.034). Physically active HIV+ individuals performed better on executive (p=.040, unadjusted; p=.043, adjusted) but not motor function (p=.17). In addition, among the physically active group the amount of physical activity (METs) positively correlated with executive (Pearson’s r=0.45, p=0.035) but not motor (r=0.21; p=.35) performance. In adjusted analyses the physically active HIV+ individuals had larger putamen volumes (p=.019). A positive relationship exists between PA and brain integrity in HIV+ individuals. Results from the present study emphasize the importance to conduct longitudinal interventional investigation to determine if PA improves brain integrity in HIV+ individuals. (JINS, 2015, 21, 880–889)
A trend toward greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in mean values and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an international database of 54 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins), and included 842,951 height and BMI measurements from twins aged 1 to 102 years. The results showed that DZ twins were consistently taller than MZ twins, with differences of up to 2.0 cm in childhood and adolescence and up to 0.9 cm in adulthood. Similarly, a greater mean BMI of up to 0.3 kg/m2 in childhood and adolescence and up to 0.2 kg/m2 in adulthood was observed in DZ twins, although the pattern was less consistent. DZ twins presented up to 1.7% greater height and 1.9% greater BMI than MZ twins; these percentage differences were largest in middle and late childhood and decreased with age in both sexes. The variance of height was similar in MZ and DZ twins at most ages. In contrast, the variance of BMI was significantly higher in DZ than in MZ twins, particularly in childhood. In conclusion, DZ twins were generally taller and had greater BMI than MZ twins, but the differences decreased with age in both sexes.
For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically (1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and (2) to study the effects of birth-related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects, including both monozygotic (MZ) and dizygotic (DZ) twins, using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes.