Genetic effects on alcohol dependence risk : Re-evaluating the importance of psychiatric and other heritable risk factors

Background. Genetic influences have been shown to play a major role in determining the risk of alcohol dependence (AD) in both women and men; however, little attention has been directed to identifying the major sources of genetic variation in AD risk. Method. Diagnostic telephone interview data from young adult Australian twin pairs born between 1964 and 1971 were analyzed. Cox regression models were fitted to interview data from a total of 2708 complete twin pairs (690 MZ female, 485 MZ male, 500 DZ female, 384 DZ male, and 649 DZ female/male pairs). Structural equation models were fitted to determine the extent of residual genetic and environmental influences on AD risk while controlling for effects of sociodemographic and psychiatric predictors on risk. Results. Risk of AD was increased in males, in Roman Catholics, in those reporting a history of major depression, social anxiety problems, and conduct disorder, or (in females only) a history of suicide attempt and childhood sexual abuse; but was decreased in those reporting Baptist, Methodist, or Orthodox religion, in those who reported weekly church attendance, and in university-educated males. After allowing for the effects of sociodemographic and psychiatric predictors, 47% (95% CI 28–55) of the residual variance in alcoholism risk was attributable to additive genetic effects, 0% (95% CI 0–14) to shared environmental factors, and 53% (95% CI 45–63) to non-shared environmental influences. Conclusions. Controlling for other risk factors, substantial residual heritability of AD was observed, suggesting that psychiatric and other risk factors play a minor role in the inheritance of AD

Role of lattice distortion and A site cation in the phase transitions of methylammonium lead halide perovskites

The rapid increase in power conversion efficiencies of photovoltaic devices incorporating lead halide perovskites has resulted in intense interest in the cause of their excellent properties. In the present paper, resonant ultrasound spectroscopy has been used to determine the elastic and anelastic properties of CH3NH3PbX3(where X=Cl, Br, or I) and CD3ND3PbI3 perovskites in the 5–380 K temperature range. This is coupled with differential scanning calorimetry, variable temperature neutron powder diffraction, and variable temperature photoluminescence studies to provide insights into the underlying processes and structural instabilities in the crystal structure. By comparing measurements on CH3NH3PbI3 with the deuterated equivalent, it has been possible to distinguish processes which are related to the hydrogen bonding between the methylammonium cation and the perovskite framework. We observe that replacing hydrogen with deuterium has a significant impact on both the elastic and photophysical properties, which shows that hydrogen bonding plays a crucial role in the material performance. Temperature-dependent photoluminescence studies show that the light emission is unaffected by the tetragonal-orthorhombic phase transition, but a blueshift in the emission and a steep increase in photoluminescence quantum yield are seen at temperatures below 150 K. Finally, observations of peaks in acoustic loss occurring in CH3NH3PbCl3 have revealed freezing processes in the vicinity of ∼150−170K, with activation energies in the range of 300 to 650 meV. These processes are attributed to freezing of the motion of methylammonium cations, and could explain the changes in photoluminescence seen in CH3NH3PbI3 at the same temperature. © 2018 American Physical Society. This work has been made available online in accordance with the publisher’s policies. This is the author created, accepted version manuscript following peer review and may differ slightly from the final published version. The final published version of this work is available at: https://doi.org/10.1103/PhysRevMaterials.2.06540

Role of lattice distortion and A site cation in the phase transitions of methylammonium lead halide perovskites

The rapid increase in power conversion efficiencies of photovoltaic devices incorporating lead halide perovskites has resulted in intense interest in the cause of their excellent properties. In the present paper, resonant ultrasound spectroscopy has been used to determine the elastic and anelastic properties of CH3NH3PbX3 (where X=Cl, Br, or I) and CD3ND3PbI3 perovskites in the 5–380 K temperature range. This is coupled with differential scanning calorimetry, variable temperature neutron powder diffraction, and variable temperature photoluminescence studies to provide insights into the underlying processes and structural instabilities in the crystal structure. By comparing measurements on CH3NH3PbI3 with the deuterated equivalent, it has been possible to distinguish processes which are related to the hydrogen bonding between the methylammonium cation and the perovskite framework. We observe that replacing hydrogen with deuterium has a significant impact on both the elastic and photophysical properties, which shows that hydrogen bonding plays a crucial role in the material performance. Temperature-dependent photoluminescence studies show that the light emission is unaffected by the tetragonal-orthorhombic phase transition, but a blueshift in the emission and a steep increase in photoluminescence quantum yield are seen at temperatures below 150 K. Finally, observations of peaks in acoustic loss occurring in CH3NH3PbCl3 have revealed freezing processes in the vicinity of ∼150−170K, with activation energies in the range of 300 to 650 meV. These processes are attributed to freezing of the motion of methylammonium cations, and could explain the changes in photoluminescence seen in CH3NH3PbI3 at the same temperature

Ab initio constrained crystal-chemical Rietveld refinement of Ca10(VxP1-xO4)6F2 apatites

Extraction of reliable bond distances and angles for Ca10(VxP1-xO4)6F2 apatites using standard Rietveld refinement with Cu K(alpha) X-ray powder data was significantly impaired by large imprecision for the O-atom coordinates. An initial attempt to apply crystal-chemical Rietveld refinements to the same compounds was partly successful, and exposed the problematic determination of two oxygen\u8211metal\u8211oxygen angles. Ab initio modeling with VASP in space groups P63/m, P21/m and Pm showed that both these angular parameters exhibited a linear dependence with the vanadium content. Stable crystal-chemical Rietveld refinements in agreement with quantum results were obtained by fixing these angles at the values from ab initio simulations. Residuals were comparable with the less precise standard refinements. The larger vanadium ion is accommodated primarily by uniform expansion and rotation of BO4 tetrahedra combined with a rotation of the Ca\u8211Ca\u8211Ca triangular units. It is proposed that the reduction of symmetry for the vanadium end-member is necessary to avoid considerable departures from formal valences at the AII and B sites in P63/m. The complementarity of quantum methods and structural analysis by powder diffraction in cases with problematic least-squares extraction of the crystal chemistry is discussed.Peer reviewed: YesNRC publication: Ye

Genome-wide association study identifies two loci strongly affecting transferrin glycosylation

Polysaccharide sidechains attached to proteins play important roles in cell-cell and receptor-ligand interactions. Variation in the carbohydrate component has been extensively studied for the iron transport protein transferrin, because serum levels of the transferrin isoforms asialotransferrin + disialotransferrin (carbohydrate-deficient transferrin, CDT) are used as biomarkers of excessive alcohol intake. We conducted a genome-wide association study to assess whether genetic factors affect CDT concentration in serum. CDT was measured in three population-based studies: one in Switzerland (CoLaus study, n = 5181) and two in Australia (n = 1509, n = 775). The first cohort was used as the discovery panel and the latter ones served as replication. Genome-wide single-nucleotide polymorphism (SNP) typing data were used to identify loci with significant associations with CDT as a percentage of total transferrin (CDT%). The top three SNPs in the discovery panel (rs2749097 near PGM1 on chromosome 1, and missense polymorphisms rs1049296, rs1799899 in TF on chromosome 3) were successfully replicated , yielding genome-wide significant combined association with CDT% (P = 1.9 × 10−9, 4 × 10−39, 5.5 × 10−43, respectively) and explain 5.8% of the variation in CDT%. These allelic effects are postulated to be caused by variation in availability of glucose-1-phosphate as a precursor of the glycan (PGM1), and variation in transferrin (TF) structur

The crystal structure of stichtite, re-examination of barbertonite, and the nature of polytypism in MgCr hydrotalcites

abStraCt Stichtite, ideally Mg 6 Cr 2 CO 3 (OH) 16 •4H 2 O, from Stichtite Hill, Tasmania, Australia, and barbertonite, also ideally Mg 6 Cr 2 CO 3 (OH) 16 •4H 2 O, from the Kaapsehoop asbestos mine, South Africa, have been studied by powder X-ray diffraction and their structures have been refined using the Rietveld method. Stichtite from Stichtite Hill crystallizes in the rhombohedral space group R3m, with unitcell parameters a = 3.09575(3) and c = 23.5069(6) Å, V = 195.099(6) Å 3 , with Z = 3/8. Barbertonite from the Kaapsehoop asbestos mine crystallizes in the hexagonal space group P6 3 /mmc. The co-type specimens of barbertonite were found to be intergrown mixtures consisting of barbertonite and stichtite. Unit-cell parameters of barbertonite from the co-type specimens were a = 3.09689(6), c = 15.6193(8) Å, and V = 129.731(8) Å 3 and a = 3.09646(6), c = 15.627(1) Å V = 129.76(1) Å 3 , and Z = ¼. Rietveld refinements of both stichtite and barbertonite show that they are polytypes rather than polymorphs and do not represent distinct mineral species. Several possible nomenclature systems are discussed for the naming of hydrotalcite minerals and groups. Raman band assignments are also presented for stichtite from Stichtite Hill. Stichtite and hydrotalcite minerals make up a large proportion of the ore at the Mount Keith nickel mine in Western Australia. Bulk powder diffraction shows the ore contains 6.1 wt% stichtite and 5.6 wt% iowaite. Hydrotalcite group minerals provide an important potential reservoir of CO 2 . At Mount Keith, the amount of CO 2 mined as stichtite could exceed 45 000 metric tons per year, while exchange of Cl for CO 3 could fix in excess of 40 000 metric tons CO 2 per year if end-member iowaite is reacted to form pyaroaurite

Evidence of Differential Allelic Effects between Adolescents and Adults for Plasma High-Density Lipoprotein

A recent meta-analysis of genome-wide association (GWA) studies identified 95 loci that influence lipid traits in the adult population and found that collectively these explained about 25–30% of heritability for each trait. Little is known about how these loci affect lipid levels in early life, but there is evidence that genetic effects on HDL- and LDL-cholesterol (HDL-C, LDL-C) and triglycerides vary with age. We studied Australian adults (N = 10,151) and adolescents (N = 2,363) who participated in twin and family studies and for whom we have lipid phenotypes and genotype information for 91 of the 95 genetic variants. Heterogeneity tests between effect sizes in adult and adolescent cohorts showed an excess of heterogeneity for HDL-C (pHet<0.05 at 5 out of 37 loci), but no more than expected by chance for LDL-C (1 out of 14 loci), or trigycerides (0 out 24). There were 2 (out of 5) with opposite direction of effect in adolescents compared to adults for HDL-C, but none for LDL-C. The biggest difference in effect size was for LDL-C at rs6511720 near LDLR, adolescents (0.021±0.033 mmol/L) and adults (0.157±0.023 mmol/L), pHet = 0.013; followed by ZNF664 (pHet = 0.018) and PABPC4 (pHet = 0.034) for HDL-C. Our findings suggest that some of the previously identified variants associate differently with lipid traits in adolescents compared to adults, either because of developmental changes or because of greater interactions with environmental differences in adults

Role of lattice distortion and A site cation in the phase transitions of methylammonium lead halide perovskites

This paper was supported by Engineering and Physical Sciences Research Council (EPSRC) Grants No. EP/K503162/1, No. EP/M506631/1, No. EP/M025330/1, No. EP/L017008/1, No. EP/K022237/1, No. EP/K015540/1, and No. EP/I036079/1. RUS facilities in Cambridge were established through grants to M.A.C. from the EPSRC and the Natural Environment Research Council (Grants No. NE/B505738/1 and No. NE/F17081/1). A portion of this research used resources at the Spallation Neutron Source, a U.S. Department of Energy Office of Science User Facility operated by the Oak Ridge National Laboratory (ORNL). I.D.W.S. acknowledges funding from a Royal Society Wolfson research merit award.The rapid increase in power conversion efficiencies of photovoltaic devices incorporating lead halide perovskites has resulted in intense interest in the cause of their excellent properties. In the present paper, resonant ultrasound spectroscopy has been used to determine the elastic and anelastic properties of CH3NH3PbX3 (where X = Cl, Br, or I) and CD3ND3PbI3 perovskites in the 5-380 K temperature range. This is coupled with differential scanning calorimetry, variable temperature neutron powder diffraction, and variable temperature photoluminescence studies to provide insights into the underlying processes and structural instabilities in the crystal structure. By comparing measurements on CH3NH3PbI3 with the deuterated equivalent, it has been possible to distinguish processes which are related to the hydrogen bonding between the methylammonium cation and the perovskite framework. We observe that replacing hydrogen with deuterium has a significant impact on both the elastic and photophysical properties, which shows that hydrogen bonding plays a crucial role in the material performance. Temperature-dependent photoluminescence studies show that the light emission is unaffected by the tetragonal-orthorhombic phase transition, but a blueshift in the emission and a steep increase in photoluminescence quantum yield are seen at temperatures below 150 K. Finally, observations of peaks in acoustic loss occurring in CH3NH3PbCl3 have revealed freezing processes in the vicinity of ∼150-170 K, with activation energies in the range of 300 to 650 meV. These processes are attributed to freezing of the motion of methylammonium cations, and could explain the changes in photoluminescence seen in CH3NH3PbI3 at the same temperature.PostprintPeer reviewe

Stakeholder-driven transformative adaptation is needed for climate-smart nutrition security in sub-Saharan Africa.

Improving nutrition security in sub-Saharan Africa under increasing climate risks and population growth requires a strong and contextualized evidence base. Yet, to date, few studies have assessed climate-smart agriculture and nutrition security simultaneously. Here we use an integrated assessment framework (iFEED) to explore stakeholder-driven scenarios of food system transformation towards climate-smart nutrition security in Malawi, South Africa, Tanzania and Zambia. iFEED translates climate-food-emissions modelling into policy-relevant information using model output implication statements. Results show that diversifying agricultural production towards more micronutrient-rich foods is necessary to achieve an adequate population-level nutrient supply by mid-century. Agricultural areas must expand unless unprecedented rapid yield improvements are achieved. While these transformations are challenging to accomplish and often associated with increased greenhouse gas emissions, the alternative for a nutrition-secure future is to rely increasingly on imports, which would outsource emissions and be economically and politically challenging given the large import increases required. [Abstract copyright: © 2024. The Author(s).