Background & Aims: Excess liver iron content is common and is linked to the risk of hepatic and extrahepatic diseases. We aimed to identify genetic variants influencing liver iron content and use genetics to understand its link to other traits and diseases. Methods: First, we performed a genome-wide association study (GWAS) in 8,289 individuals from UK Biobank, whose liver iron level had been

Genetic studies promise to provide insight into the molecular mechanisms underlying type 2 diabetes (T2D). Variants associated with T2D are often located in tissue-specific enhancer clusters or super-enhancers. So far, such domains have been defined through clustering of enhancers in linear genome maps rather than in three-dimensional (3D) space. Furthermore, their target genes are often unknown.

Insulin resistance is a key mediator of obesity-related cardiometabolic disease, yet the mechanisms underlying this link remain obscure. Using an integrative genomic approach, we identify 53 genomic regions associated with insulin resistance phenotypes (higher fasting insulin levels adjusted for BMI, lower HDL cholesterol levels and higher triglyceride levels) and provide evidence that their link

The language of newspapers in the public sphere has a crucial impact on how the public perceives and participates in society. It can serve to encourage or counteract active and informed citizens; in fact, it is a crucial element in democratisation processes. The purposes of the present study are to elucidate what means of persuasion are used to support theses on politics in newspaper discours

Gaming among young people with disabilities is often understood within a habilitation frame, as if video and computer games primarily should help to exercise and ‘improve’. Little is known about how these games are used within a private frame, and how young people with disabilities operate their gaming as concrete persons rather than as treatment-receiving clients. Through the use of stories, desc

The Vel blood group antigen is expressed on the red blood cells of most individuals. Recently, we described that homozygosity for inactivating mutations in SMIM1 defines the rare Vel-negative phenotype. Still, Vel-positive individuals show great variability in Vel antigen expression, creating a risk for Vel blood typing errors and transfusion reactions. We fine-mapped the regulatory region located

Innovations in the lighting sector, such as LED-based light sources, have opened up unprecedented possibilities to both save energy and improve the quality of lighting. There is growing evidence of light's importance for human health, moods, work productivity and quality of life in general; but the uptake of new solutions is still rather slow in society. The public sector can play an important rol

Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index,

The purpose of this book chapter is to investigate to what extent technical function can be protected under European Union (EU) copyright law. Technical function has been explicitly excluded under other regimes of protection in the Union, for example, trademark and design protection law, to avoid overlap (also known as cumulation) between these regimes and patent law. No such statutory provisions

We hypothesized that the relative contribution of fasting plasma glucose (FPG) versus postprandial plasma glucose (PPG) to glycated haemoglobin (HbA1c) could be calculated using an algorithm developed by the A1c-Derived Average Glucose (ADAG) study group to make HbA1c values more clinically relevant to patients. The algorithm estimates average glucose (eAG) exposure, which can be used to calculate

Tumours displaying differentiation towards normal fat constitute the most common subgroup of soft tissue neoplasms. A series of such tumours was investigated by whole-exome sequencing followed by targeted ultra-deep sequencing. Eighty percent of angiolipomas, but not any other tumour type, displayed mutations in the protein kinase D2 (PRKD2) gene, typically in the part encoding the catalytic domai

Increased estuarine input and subsequent degradation of dissolved organic carbon (DOC) is a potentially important cause of rising CO2 concentrations that contribute to coastal marine acidification. However, it is not clear whether or not the evolved CO2 originates from the decomposition of terrestrially-derived DOC. We recorded the changes in δ13C and δ2H of dissolved organic matter during laborat