Male sex development and reproductive function is regulated by androgens acting via the androgen receptor (AR). The AR harbours two polymorphic repeats of CAG and GGN triplets, encoding glutamines and glycines, respectively. Both polymorphisms affect the AR transactivation ability, although the function of the GGN repeat was virtually unknown at the start of this project. Thus, the main purpose wi

Aims To test the association between the immunoreceptor PD-1 (PDCD1) gene and Type 1 diabetes mellitus (T1DM). This gene has been reported to be associated with other autoimmune diseases such as systemic lupus erythematosus (SLE) as well as T1DM. Methods Genotyping of single nucleotide polymorphisms (SNPs) in the PDCD1 gene was performed using polymerase chain reaction-restriction fragment length

A possible role for infections of the pregnant mother in the development of childhood acute leukemias and lymphomas has been suggested. However, no specific infectious agent has been identified. Offspring of 74,000 mothers who had serum samples taken during pregnancy and stored in a large-scale biobank were followed up to the age of 15 years (750,000 person years) through over-generation linkages

Weight loss is the most important non-neurological complication of Huntington's disease (HD). It correlates with disease progression and affects the quality of life of HD patients, suggesting that it could be a valuable target for therapeutic intervention. The mechanism underlying weight loss in HD is unknown. Mutant huntingtin, the protein that causes the disease, is not only expressed in the bra

In order to tap the energy saving and climate mitigation potential of the building sector, transaction costs of implementing energy efficient technologies need to be better understood and ultimately reduced. The objective of this paper is to identify and analyze the nature and scale of transaction costs resulting from the application of the passive house concept in energy efficient renovations. Re

In response to stakeholder expectations from corporate social responsiblity (CSR), many firms create written policies about principles of social responsibility to be applied in their corporate activities. In this book, it is suggested that CSR could be integrated as part of the firm's marketing strategies. The perspective is that of a retail organisation. The retailer not only has immediate contac

Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown. We conducted a multiancestry genome-wide-association meta-analysis in 521,612 individuals (67,162 cases and 454,450 controls) and discovered 22 new stroke risk loci, bringing the total to 32. We further found shared genetic variation with related vascular traits, including blood pressure, cardiac traits, and