Dataset pertaining to the publication “Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults.”

The majority of human proteins are post-translationally modified by covalent addition of one or more complex oligosaccharides (glycans). Alterations in glycosylation processing are associated with numerous diseases and glycans are attracting increasing attention both as disease biomarkers and as targets for novel therapeutic approaches. Using a recently developed high-throughput high-performance liquid chromatography (HPLC) analysis method, we have reported, in a pilot genome-wide association study of 13 glycan features in 2705 individuals from three European populations, that polymorphisms at three loci (FUT8, FUT6/FUT3 and HNF1A) affect plasma levels of N-glycans. Here, we extended the analysis to 33 directly measured and 13 derived glycosylation traits in 3533 individuals and identified three novel gene association (MGAT5, B3GAT1 and SLC9A9) as well as replicated the previous findings using an additional European cohort. MGAT5 (meta-analysis association P-value = 1.80 × 10−10 for rs1257220) encodes a glycosyltransferase which is known to synthesize the associated glycans. In contrast, neither B3GAT1 (rs7928758, P = 1.66 × 10−08) nor SLC9A9 (rs4839604, P = 3.50 × 10−13) had previously been associated functionally with glycosylation of plasma proteins. Given the glucuronyl transferase activity of B3GAT1, we were able to show that glucuronic acid is present on antennae of plasma glycoproteins underlying the corresponding HPLC peak. SLC9A9 encodes a proton pump which affects pH in the endosomal compartment and it was recently reported that changes in Golgi pH can impair protein sialylation, giving a possible mechanism for the observed association.Please see PlasmaGlycansGWAS_README_DATASHARE.pd

Experiences of urine collection devices during suspected Urinary Tract Infections: qualitative study

Background: Up to 30% of urine samples from women with suspected urinary tract infection (UTI) are contaminated and need to be repeated, burdening health services and delaying antibiotic prescription. To prevent contamination, midstream urine (MSU) sampling, which can be difficult to achieve, is recommended. Urine collection devices (UCDs) which automatically capture MSU have been proposed as a solution. There are few studies exploring women’s experiences of using such devices. Aim: Our aim was to explore women’s experiences of urine collection and the use of UCDs during a suspected UTI. Design and Setting: An embedded qualitative study in a UK randomised controlled trial (RCT) of UCDs among women attending primary care for UTI symptoms. Method: Semi-structured, telephone interviews with 29 women who had participated in the RCT were conducted. The transcribed interviews were then thematically analysed. Results: Most of the women were dissatisfied with how they normally produced urine samples. Many were able to use the devices, found them hygienic and would use them again, even if they had initially experienced problems. Women who had not used the devices expressed interest in trying them. Potential barriers to UCD use included positioning for the sample, UTI symptoms making urine collection difficult, and waste disposal because of the single-use plastic in the UCDs. Conclusion: Most women agreed there was a need for a user- and environment-friendly device to improve urine collection. While using UCDs can be difficult for women experiencing UTI symptoms, they may be appropriate for asymptomatic sampling in other clinical populations

A study of petrol and diesel fuel blends with special reference to their thermodynamic propeties and phase equilibria

The ternary phase behaviour of the n-heptane-l-propanol-water system was studied and compared with the theoretical prediction based on the UNIQUAC model for non-electrolyte solutions. The results showed that this model adequately approximated experimental studies. The excess enthalpies and excess volumes for several binary mixtures were determined. The excess enthalpies were measured using a LKB flow microcalorimeter and the excess -volumes determined using a PAAR densitometer. The study showed that no significant enthalpy or volume changes occurred when petrol/n-heptane were mixed with alcohols . Ternary phase diagrams, including tie lines have been determined for a number of petrol-alcohol-water systems (including the Sasol blend of alcohols). The tie line results show that the concentration of water in the water-rich layer is strongly dependent on the type of alcohol used. The Sasol alcohol blended with petrol resulted in a high water concentration in the water-rich layer which forms on phase separation. This is believed to contribute significantly to the corrosion problems experienced by motorists using the Sasol blended fuel on the Witwatersrand. The effect of temperature on several of these blends was included in the study. Diesel-alcohol blends and the co-solvent properties of ethyl acetate investigated. Ethyl acetate ensures miscibility at low concentrations for diesel-ethanol blends. Octyl nitrate and two cetane improvers from AECI were assessed in terms of their ability to restore cetane rating of blended diesel fuel to that of pure diesel fuel. The results indicated that all three samples were successful in this application.KMBT_36

A study of petrol and diesel fuel blends with special reference to their thermodynamic propeties and phase equilibria

The ternary phase behaviour of the n-heptane-l-propanol-water system was studied and compared with the theoretical prediction based on the UNIQUAC model for non-electrolyte solutions. The results showed that this model adequately approximated experimental studies. The excess enthalpies and excess volumes for several binary mixtures were determined. The excess enthalpies were measured using a LKB flow microcalorimeter and the excess -volumes determined using a PAAR densitometer. The study showed that no significant enthalpy or volume changes occurred when petrol/n-heptane were mixed with alcohols . Ternary phase diagrams, including tie lines have been determined for a number of petrol-alcohol-water systems (including the Sasol blend of alcohols). The tie line results show that the concentration of water in the water-rich layer is strongly dependent on the type of alcohol used. The Sasol alcohol blended with petrol resulted in a high water concentration in the water-rich layer which forms on phase separation. This is believed to contribute significantly to the corrosion problems experienced by motorists using the Sasol blended fuel on the Witwatersrand. The effect of temperature on several of these blends was included in the study. Diesel-alcohol blends and the co-solvent properties of ethyl acetate investigated. Ethyl acetate ensures miscibility at low concentrations for diesel-ethanol blends. Octyl nitrate and two cetane improvers from AECI were assessed in terms of their ability to restore cetane rating of blended diesel fuel to that of pure diesel fuel. The results indicated that all three samples were successful in this application.KMBT_36

The Impact of Poor Health Behaviors on Workforce Disability

The effects of poor health habits on mortality have been studied extensively. However, few studies have examined the impact of these health behaviors on workforce disability. In the Health and Retirement Study, a nationally representative cohort of 6044 Americans who were between the ages of 51 and 61 and who were working in 1992, we found that both baseline smoking status and a sedentary lifestyle predict workforce disability six years later. If this relationship is causal, cost-benefit analyses of health behavior intervention that neglect workforce disability may substantially underestimate the benefits of such interventions.

Distinguishing pedigree relationships via multi-way identity by descent sharing and sex-specific genetic maps

The proportion of samples with one or more close relatives in a genetic dataset increases rapidly with sample size, necessitating relatedness modeling and enabling pedigree-based analyses. Despite this, relatives are generally unreported and current inference methods typically detect only the degree of relatedness of sample pairs and not pedigree relationships. We developed CREST, an accurate and fast method that identifies the pedigree relationships of close relatives. CREST utilizes identity by descent (IBD) segments shared between a pair of samples and their mutual relatives, leveraging the fact that sharing rates among these individuals differ across pedigree configurations. Furthermore, CREST exploits the profound differences in sex-specific genetic maps to classify pairs as maternally or paternally related—e.g., paternal half-siblings—using the locations of autosomal IBD segments shared between the pair. In simulated data, CREST correctly classifies 91.5%–100% of grandparent-grandchild (GP) pairs, 80.0%–97.5% of avuncular (AV) pairs, and 75.5%–98.5% of half-siblings (HS) pairs compared to PADRE’s rates of 38.5%–76.0% of GP, 60.5%–92.0% of AV, 73.0%–95.0% of HS pairs. Turning to the real 20,032 sample Generation Scotland (GS) dataset, CREST identified seven pedigrees with incorrect relationship types or maternal/paternal parent sexes, five of which we confirmed as mistakes, and two with uncertain relationships. After correcting these, CREST correctly determines relationship types for 93.5% of GP, 97.7% of AV, and 92.2% of HS pairs that have sufficient mutual relative data; the parent sex in 100% of HS and 99.6% of GP pairs; and it completes this analysis in 2.8 h including IBD detection in eight threads