Search results

We propose to combine population-based register data, with a nested clinical cohort to correct misclassification and unmeasured confounding through probabilistic quantification of bias. We illustrate this approach by estimating the association between knee osteoarthritis and mortality. We used the Swedish Population Register to include all persons resident in the Skåne region in 2008 and assessed

Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inhibitors targeting these genes1,2. Gain-of-kinase-function variants in LRRK2 are known to significantly increase the risk of Parkinson’s disease3,4, su

Naturally occurring human genetic variants that are predicted to inactivate protein-coding genes provide an in vivo model of human gene inactivation that complements knockout studies in cells and model organisms. Here we report three key findings regarding the assessment of candidate drug targets using human loss-of-function variants. First, even essential genes, in which loss-of-function variants

The acceleration of DNA sequencing in samples from patients and population studies has resulted in extensive catalogues of human genetic variation, but the interpretation of rare genetic variants remains problematic. A notable example of this challenge is the existence of disruptive variants in dosage-sensitive disease genes, even in apparently healthy individuals. Here, by manual curation of puta

Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD)4 have become integral in the interpretation of single-nucleotide v

Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the function of an organism will be depleted of such variants in natural populations, whereas non-essential genes will tolerate their accumulation. However, predicted loss-of-function variants are enriched for annotation errors,

OBJECTIVE: To determine whether exposure to cardiovascular medications and statins is associated with increased risk of giant cell arteritis (GCA). DESIGN: The population-based case-control study comprised a cohort of patients with biopsy-confirmed GCA linked to the Swedish Prescribed Drug Register to identify all exposure to drugs prior to diagnosis of GCA. Ten controls per GCA case, matched for

Älska Skog educational competition (Gothenburg, Sweden)Gothenburg-based educational institute Universeum is running annual design competitions on forest topics for primary school pupils, starting in 2016. Based on various activities in which pupils gain knowledge about forest-related challenges and opportunities as well as forestry, they would design plans to deal with those problems. After a firs

Failing to communicate current knowledge limitations, that is, epistemic uncertainty, in environmental risk assessment (ERA) may have severe consequences for decision making. Bayesian networks (BNs) have gained popularity in ERA, primarily because they can combine variables from different models and integrate data and expert judgment. This paper highlights potential gaps in the treatment of uncert

Migration and mobility is an increasingly important topic within the European Neighbourhood Policy (ENP). The very first ENP Strategy Papers already acknowledged that perspectives for lawful migration and common efforts to combat illegal migration, as well as the establishment of efficient mechanisms for return, are crucial determinants for successful cooperation with neighbouring countries. With

With the rising prevalence of both diabetes mellitus (DM) and peripheral arterial disease (PAD), the aim of this project was to examine the association between dietary intake and lifestyle on the risk of developing PAD among individuals with DM. The Malmö Diet and Cancer study was a prospective cohort study with baseline examinations carried out between 1991 and 1996 in Malmö, Sweden (n = 30,446).

Purpose: The pin fin is applied into a Lamilloy cooling structure which is broadly used in the leading edge region of the modern gas turbine vane. The purpose of this paper is to investigate effects of the layout, diameter and shape of pin fins on the flow structure and heat transfer characteristics in a newly improved Lamilloy structure at the leading edge region of a turbine vane. Design/methodo

Germline mutations of BRCA1 and BRCA2 predispose individuals to a high risk of breast and ovarian cancer, and elevated risk of other cancers, including those of the pancreas and prostate. BRCA2 mutation carriers may have increased risk of uveal melanoma (UM) and cutaneous melanoma (CM), but associations with these cancers in BRCA1 mutation carriers have been mixed. Here, we further assessed whethe

Background: Health professions education programs are tasked with designing curricula to effectively andefficiently equip their graduates with the required competences and life-long learning skills needed fortoday’s fast-paced, knowledge intensive society. Continuous monitoring and improving of educationalquality is essential to attain these goals. Quality assurance is multi-faceted and requires t

Several studies have reported associations of hypertension with cancer, but not all results were conclusive. We examined the association of systolic (SBP) and diastolic (DBP) blood pressure with the development of incident cancer at all anatomical sites in the European Prospective Investigation into Cancer and Nutrition (EPIC). Hazard ratios (HRs) (95% confidence intervals) were estimated using mu

Previous studies have suggested that thyroid function is associated with breast cancer risk, which could have an important clinical impact, as one in eight women will develop a thyroid disorder during her lifetime. However, the underlying pathomechanism behind the association is still unknown. We used the Malmö Diet and Cancer Study (a population-based prospective study consisting of 17,035 women)

To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and

Fibrotic disorders account for over one third of mortalities worldwide. Despite great efforts to study the cellular and molecular processes underlying fibrosis, there are currently few effective therapies. Dual-stage polymerization reactions are an innovative tool for recreating heterogeneous increases in extracellular matrix (ECM) modulus, a hallmark of fibrotic diseases in vivo. Here, we present