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Background: Macronutrient intake varies substantially between individuals, and there is evidence that this variation is partly accounted for by genetic variants. Objective: The objective of the study was to identify common genetic variants that are associated with macronutrient intake. Design: We performed 2-stage genome-wide association (GWA) meta-analysis of macronutrient intake in populations o
Background About 30% of cases of chronic lymphocytic leukaemia (CLL) carry quasi-identical B-cell receptor immunoglobulins and can be assigned to distinct stereotyped subsets. Although preliminary evidence suggests that B-cell receptor immunoglobulin stereotypy is relevant from a clinical viewpoint, this aspect has never been explored in a systematic manner or in a cohort of adequate size that wou
Type 2 diabetes (T2D) and metabolic syndrome (MetS) are major health problems associated with cardiovascular disease. Both diseases are influenced by a combination of genetic and environmental factors. The aim of this thesis was to identify genetic risk factors for T2D, particularly T2D associated with obesity, and for MetS. To achieve this goal, we 1) followed-up a region linked to obese T2D in a
Obesity is increasing rapidly in all parts of the world and is now considered to be a global epidemic. Obesity is a major risk factor for several health issues such as type 2 diabetes (T2D) and cardiovascular disease. The adipose tissue is central in the maintenance of a normal energy homeostasis in the body for instance via regulating lipid storage and release. Besides being an important energy r
Tolerance is crucial for maintaining immunological balance and avoid autoimmune diseases like type 1 diabetes and the inflammatory bowel disease, ulcerative colitis (UC). In Study I, we have investigated the regulatory role of a class of noncoding RNAs, the miRNAs, during thymocyte development of the where central tolerance is established. We used the non-obese diabetic mouse (NOD) which is spon
The reactor containment is one of the most important buildings at a nuclear power plant. In case of an accident the containment wall is the final protection against radioactive leakage to the surrounding environment. A reactor containment contains different types of concrete structures. They can be grouped as external structures constituting a barrier between the inside of the containment and the
Glucagon secreted by pancreatic α-cells plays an important role in the regulation of blood glucose. In this thesis, different techniques such as electrophysiology, immunohistochemistry and hormone secretion assay were combined to explore the mechanisms by which glucagon secretion is regulated. Like pancreatic β-cells, which produce insulin, α-cells are electrically excitable and equipped with dif
Infertility, defined as the inability to conceive after one year of unprotected regular intercourse, affects up to 15% of all couples of reproductive age. The infertility can originate from female, male or both partners. In up to 50% of the affected couples, a male factor is the cause of infertility. Semen analysis is the cornerstone of male infertility assessment and an abnormal result often trig
OBJECTIVES: To investigate the significance of ACE gene insertion/deletion (I/D) polymorphism in the frequency of autoimmune manifestations in sarcoidosis. DESIGN: In patients with sarcoidosis the ACE gene I/D polymorphism was detected with PCR on genomic DNA. The patients with sarcoidosis were divided according to the presence (n = 30) or absence (n = 32) of autoimmune manifestations. The former
Conclusions. The results confirm that tumour stage influences the risk of recurrence/second primary tumour (SPT). High-risk human papillomavirus (HPV)-infected patients have a significantly higher risk of recurrence/SPT compared with high-risk HPV-negative patients. High alcohol consumption was associated with a higher risk of recurrence/SPT. In this study, the competing risk of death in intercurr
The research described in this thesis, focuses on some activities on the demand side that could reduce peak load in electricity system by using consumer flexibility i.e. by increasing the demand side response to signals coming from the energy market. The major objective is to test and analyse different strategies to reduce peak load at the demand side considering their techno-economic, environment
Background High plasma HDL cholesterol is associated with reduced risk of myocardial infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are randomly assigned at meiosis, are independent of non-genetic confounding, and are unmodified by disease processes, mendelian randomisation can be used to test the hypothesis that the association of a plasma biomar
The current epidemiologic evidence suggests that men with type 2 diabetes mellitus may be at lower risk of developing prostate cancer, but little is known about its association with stage and grade of the disease. The association between self-reported diabetes mellitus at recruitment and risk of prostate cancer was examined in the European Prospective Investigation into Cancer and Nutrition (EPIC)
Common diseases such as type 2 diabetes are phenotypically heterogeneous. Obesity is a major risk factor for type 2 diabetes, but patients vary appreciably in body mass index. We hypothesized that the genetic predisposition to the disease may be different in lean (BMI<25 Kg/m(2)) compared to obese cases (BMI >= 30 Kg/m(2)). We performed two case-control genome-wide studies using two accepted cut-o
Human land use changes perturb biogeochemical silica (Si) cycling in terrestrial ecosystems. This directly affects Si mobilisation and Si storage and influences Si export from the continents, although the magnitude of the impact is unknown. A major reason for our lack of understanding is that very little information exists on how land use affects amorphous silica (ASi) storage in soils. We have qu
The rs738409 C > G single-nucleotide polymorphism in PNPLA3 leads to a missense mutation (I148M) which increases liver fat but does not cause insulin resistance. We hypothesised that patients with non-alcoholic fatty liver disease (NAFLD) due to the PNPLA3 variant ('PNPLA3 NAFLD'aEuro parts per thousand= PNPLA3-148MM) do not have adipose tissue (AT) inflammation in contrast with those with NAFLD d
BACKGROUND: Muscle weakness in one or both upper limbs is common in persons with previous polio, but there is very limited knowledge how it influences daily life. OBJECTIVE: To assess muscle weakness and self-perceived disability of the upper limbs in persons with late effects of polio and evaluate their association. DESIGN: Cross-sectional study. SETTINGS: University hospital outpatient clini
