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Large-scale human exome sequencing can identify rare protein-coding variants with a large impact on complex traits such as body adiposity. We sequenced the exomes of 645,626 individuals from the United Kingdom, the United States, and Mexico and estimated associations of rare coding variants with body mass index (BMI). We identified 16 genes with an exome-wide significant association with BMI, incl
Purpose: To assess the change in mammography screening attendance in Sweden—overall and in sociodemographic groups at risk of low attendance—after removal of the out-of-pocket fee in 2016. Methods: Individual-level data on all screening invitations and attendance between 2014 and 2018 were linked to sociodemographic data from Statistics Sweden. Odds ratios and 95% confidence intervals (CIs) for at
C-terminal α-amidation is the final and essential step in the biosynthesis of several peptide hormones. Peptidylglycine α-amidating monooxygenase (PAM) is the only known enzyme to catalyse this reaction. PAM amidating activity (AMA) is known to be present in human circulation, but its physiological role and significance as a clinical biomarker remains unclear. We developed a PAM-specific amidation
Improvement of structural efficiency in various materials is critically important for sustainable society development and the efficient use of natural resources. Recently, a lot of attention in science and engineering has been attracted to heterogeneous-structure materials because of high structural efficiency. However, strategies for the efficient design of heterogenous structures are still in th
Acute ischemic stroke affects men and women differently. In particular, women are often reported to experience higher acute stroke severity than men. We derived a low-dimensional representation of anatomical stroke lesions and designed a Bayesian hierarchical modeling framework tailored to estimate possible sex differences in lesion patterns linked to acute stroke severity (National Institute of H
Sweden has witnessed an increase in the rates of sexual crimes including rape. Knowledge of who the offenders of these crimes are is therefore of importance for prevention. We aimed to study characteristics of individuals convicted of rape, aggravated rape, attempted rape or attempted aggravated rape (abbreviated rape+), against a woman ≥18 years of age, in Sweden. By using information from the Sw
Aim: To test whether diabetes genetic risk modifies the association of successful lifestyle changes with incident diabetes. Materials and methods: We studied 823 individuals randomized to the intensive lifestyle intervention (ILS) arm of the Diabetes Prevention Programme who were diabetes-free 1 year after enrolment. We tested additive and multiplicative interactions of a 67-variant diabetes genet
The mast cell granule metalloprotease CPA3 is proposed to have important tissue homeostatic functions. However, the basal CPA3 mRNA and protein expression among mast cell populations has remained poorly investigated. Using a novel histology-based methodology that yields quantitative data on mRNA and protein expression at a single-cell level, the present study maps CPA3 mRNA and protein throughout
To identify genetic variants associated with diabetic retinopathy (DR), we performed a large multiethnic genome-wide association study. Discovery included eight European cohorts (n = 3,246) and seven African American cohorts (n = 2,611). We meta-analyzed across cohorts using inverse-variance weighting, with and without liability threshold modeling of glycemic control and duration of diabetes. Vari
Aim: To evaluate whether history of pregnancy complications [pre-eclampsia, gestational hypertension, preterm delivery, or small for gestational age (SGA)] improves risk prediction for cardiovascular disease (CVD).Methods and results: This population-based, prospective cohort study linked data from the HUNT Study, Medical Birth Registry of Norway, validated hospital records, and Norwegian Cause of
Overall survival of patients with metastatic non-small cell lung cancer (NSCLC) has significantly improved with platinum-based salt treatments and recently with targeted therapies and immunotherapies. However, treatment failure occurs due to acquired or emerging tumor resistance. We developed a monoclonal antibody against the proform of neurotensin (LF-NTS mAb) that alters the homeostasis of tumor
Objective: To investigate whether inverse probability of participation weighting (IPPW) using register data on sociodemographic and disease history variables can improve external validity in a cohort study with selective participation. Study Design and Setting: We fitted various IPPW models by logistic regression using register data for the participants (n = 1,111) and nonparticipants (n = 1,132)
Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and sm
Although grade inflation is unfair and may imply inefficient allocation of human resources, current knowledge of grade inflation effects on individual outcomes is scarce. One explanation is probably the challenge of measuring and estimating causal grade inflation effects. This study examines the consequences of grade inflation at the upper secondary education level on enrolment in higher education
Sugar sweetened beverages (SSB), artificially sweetened beverages (ASB), juice, coffee and tea has been associated with risk of metabolic disease. High consumption of these beverages may be associated with certain characteristics of the overall diet that would be important to take into account when analysing beverage-disease associations. Here, we investigate five beverages and their association w
Objective: The individual enabling and support (IES) model was effective in gaining competitive employment for people with affective disorders compared with traditional vocational rehabilitation (TVR) services in a randomized controlled trial in a Swedish setting. The object of this study is to perform a cost-effectiveness analysis of IES comparing to TVR. Methods: We considered the costs of inter
Aim: To assess practical implications of genotype-based recall (GBR) studies, an increasingly popular approach for in-depth characterization of genotype–phenotype relationships. Methods: We genotyped 2500 participants from the Swedish EpiHealth cohort and considered loss-of-function and missense variants in genes with relation to cardiometabolic traits as the basis for our GBR study. Therefore, we
The genetic loci that have been found by genome-wide association studies to modulate risk of coronary heart disease explain only a fraction of its total variance, and gene-gene interactions have been proposed as a potential source of the remaining heritability. Given the potentially large testing burden, we sought to enrich our search space with real interactions by analyzing variants that may be
Popular Abstract in English Over thirty years of experience shows that energy efficiency is the easiest, fastest, and cheapest strategy to reduce today’s rampant energy use. To enhance energy efficiency, governmental intervention and business strategies are needed. The question of which governmental policies are the most effective to support energy efficiency remains unanswered. Policy learning anExperience shows that energy efficiency improvements are the most cost-effective path to meeting global energy challenges. To promote energy efficiency, various policy instruments have been in place since the 1970s. Nevertheless, energy efficiency improvements still lag behind their potential in the building sector, which indicates that there is a lack of knowledge about the performance of policie
Looking at globular proteins with the eyes of a colloid scientist has a long tradition, in fact a significant part of the early colloid literature was focused on protein solutions. However, it has also been recognized that proteins are much more complex than the typical hard sphere-like synthetic model colloids. Proteins are not perfect spheres, their interaction potentials are in general not isot
