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Most patients with celiac disease are positive for either HLA-DQA1*05:01-DQB1*02 (DQ2.5) or DQA1*03:01-DQB1*03:02 (DQ8). Remaining few patients are usually DQA1*02:01-DQB1*02 (DQ2.2) carriers. Screenings of populations with high frequencies of these HLA-DQA1-DQB1 haplotypes report a 1% to 3% celiac disease prevalence. The aim was to determine the prevalence of HLA-DQ risk haplotypes for celiac dis
When analyzing effect heterogeneity, the researcher commonly opts for stratification or a regression model with interactions. While these methods provide valuable insights, their usefulness can be somewhat limited, since they typically fail to take into account heterogeneity with respect to many dimensions simultaneously, or give rise to models with complex appearances. Based on the potential outc
CONTEXT: Metabolomics has the potential to generate biomarkers that can facilitate understanding relevant pathways in the pathophysiology of type 2 diabetes (T2DM). METHODS: Nontargeted metabolomics was performed, via liquid chromatography-mass spectrometry, in a discovery case-cohort study from the Malmö Preventive Project (MPP), which consisted of 698 metabolically healthy participants, of whom
The common patatin-like phospholipase domain-containing protein 3 (PNPLA3) variant I148M predisposes to nonalcoholic liver disease but not its metabolic sequelae. We compared the handling of labeled polyunsaturated fatty acids (PUFAs) and saturated fatty acids (SFA) in vivo in humans and in cells harboring different PNPLA3 genotypes. In 148M homozygous individuals, triglycerides (TGs) in very low-
Background and Objectives: The risk of cerebral palsy (CP) is high in preterm infants and is often accompanied by additional neurodevelopmental comorbidities. The present study describes lifetime prevalence of CP in a population-based prospective cohort of children born extremely preterm, including the type and severity of CP and other comorbidities (ie, developmental delay and/or cognitive impair
Scope: Body weight responds variably to the intake of dairy foods. Genetic variation may contribute to inter-individual variability in associations between body weight and dairy consumption. Methods and results: A genome-wide interaction study to discover genetic variants that account for variation in BMI in the context of low-fat, high-fat and total dairy intake in cross-sectional analysis was co
We performed a genome-wide association study of total hip replacements, based on variants identified through whole-genome sequencing, which included 4,657 Icelandic patients and 207,514 population controls. We discovered two rare signals that strongly associate with osteoarthritis total hip replacement: a missense variant, c.1141G>C (p.Asp369His), in the COMP gene (allelic frequency = 0.026%, P =
New generation sequencing (NGS) genetic testing is a powerful diagnostic tool and is increasingly used in the clinical workup of patients, especially in unusual presentations or where a positive family history suggests heritable disease. This review addresses the NGS technologies Targeted sequencing (TS), Whole exome sequencing (WES), Whole genome sequencing (WGS), and the use of gene panels or ge
In acute myeloid leukemia (AML) FLT3 internal tandem duplication (ITD) and nucleophosmin 1 (NPM1) mutations provide prognostic information with clinical relevance through choice of treatment, but the effect of age and sex on these molecular markers has not been evaluated. The Swedish AML Registry contains data on FLT3-ITD and NPM1 mutations dating to 2007, and 1570 adult patients younger than 75 y
Introduction Given that in developed countries we spend about 65% of our time in private homes (Brasche et al. 2005), understanding the exposures in homes is of outmost importance. Airborne particle concentrations indoors can be affected by particles of indoor and outdoor origins, as well as physico-chemical processes indoors, outdoor infiltration affected by tightness of the building envelope and
Stimuli-responsive microgels have attracted much interest for their use as vehicles for drug delivery or as the building blocks of adaptive materials. Ionic microgel particles, including popular poly(NIPAM-co-acrylic acid), show strong mechanical responsiveness to many external stimuli, including changes in ionic strength or acidity. In this work, we demonstrate that combining multiple ionic stimu
Society has a responsibility to aid its citizens in case of emergency. This calls for planning and preparations. However, societal emergency response activities are not always fully effective. This might be due to suboptimal emergency planning and preparations, with some planned response actions not working as intended. For example, it is possible that some actions show to be ‘over-planned’ with t
Society protects its citizens against crises and emergencies. Emergency management, and particularly preparedness for emergency response, can be strengthened through the use of scenario-based exercises. Since such exercises are expensive, it is of common interest to make efficient use of their results. One way to enhance existing methods for scenario-based exercise is to improve their learning eff
The 14C content of 60 human blood serum samples from residents of Malmö (Sweden) in 1978, obtained from a biobank, has been measured to estimate the accuracy of 14C bomb-pulse dating. The difference between the date estimated by using the Calibomb software and sampling date varied between -3±0.4 and +0.2±0.5 years. The average age deviation of all samples was -1.5±0.7 years, with the delay between
Aims/hypothesis: The aim of this study was to assess the interaction between melatonin receptor 1B gene (MTNR1B) rs10830963 polymorphism and lifestyle intervention during pregnancy on occurrence of gestational diabetes mellitus (GDM) in high-risk women. Methods: This is a secondary analysis of the randomised controlled gestational diabetes prevention trial ‘RADIEL’, conducted between 2008 and 2014
Background: The association between impaired lung function and diabetes risk has been established in the past, however the temporal and causal relationships between the two remain unclear. We assessed the relationship between baseline FEV1 and FVC and risk of incident diabetes at different time intervals for participants in the Malmö Preventive Project cohort. Methods: Baseline lung function was a
