Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, nineteen associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biologic pathways.
Epidemiological studiesequityhealth surveysnon-responseresponse biasself-selectionbiasethnicityresponse ratedisability benefit. AbstractBackground: Research on health equity which mainly utilises population-based surveys, may be hampered by serious selection bias due to a considerable number of invitees declining to participate. Sufficient information from all the non-responders is rarely available to quantify this bias. Predictors of attendance, magnitude and direction of non-response bias in prevalence estimates and association measures, are investigated based on information from all 40 888 invitees to the Oslo Health Study.
The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal Mendelian Long QT Syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals we identified 35 common variant QT interval loci, that collectively explain ∼8-10% of QT variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 novel QT loci in 298 unrelated LQTS probands identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode for proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies novel candidate genes for ventricular arrhythmias, LQTS,and SCD.
The use of a four‐level questionnaire to assess leisure time physical activity (PA) and its validation is reviewed in this paper. This questionnaire was first published in 1968 and has then been used by more than 600 000 subjects, especially in different population studies in the Nordic countries. A number of modifications to the questionnaire have been published. These are mostly minor changes, such as adding practical examples of activities to illustrate the levels of PA. Some authors have also added duration requirements that were not included for all levels of PA in the original version. The concurrent validity, with respect to aerobic capacity and movement analysis using objective measurements has been shown to be good, as has the predictive validity with respect to various risk factors for health conditions and for morbidity and mortality.
Studies of whether polyunsaturated fatty acids in fish oil--in particular, eicosapentaenoic and docosahexaenoic acids--lower blood pressure have varied in design and results. We conducted a population-based, randomized, 10-week dietary-supplementation trial in which the effects of 6 g per day of 85 percent eicosapentaenoic and docosahexaenoic acids were compared with those of 6 g per day of corn oil in 156 men and women with previously untreated stable, mild essential hypertension. The mean systolic blood pressure fell by 4.6 mm Hg (P = 0.002), and diastolic pressure by 3.0 mm Hg (P = 0.0002) in the group receiving fish oil; there was no significant change in the group receiving corn oil. The differences between the groups remained significant for both systolic (6.4 mm Hg; P = 0.0025) and diastolic (2.8 mm Hg; P = 0.029) pressure after control for anthropometric, lifestyle, and dietary variables. The decreases in blood pressure were larger as concentrations of plasma phospholipid n-3 fatty acids increased (P = 0.027). Dietary supplementation with fish oil did not change mean blood pressure in the subjects who ate fish three or more times a week as part of their usual diet, or in those who had a base-line concentration of plasma phospholipid n-3 fatty acids above 175.1 mg per liter. We conclude that eicosapentaenoic and docosahexaenoic acids reduce blood pressure in essential hypertension, depending on increases in plasma phospholipid n-3 fatty acids.
The aim of the present study was to evaluate the importance of social status and lifestyle for dietary habits, since these factors may influence life expectancy. We studied the association of four indicators for healthy dietary habits (fruits and vegetables, fibre, fat and Hegsted score) with sex, age, socio-economic status, education, physical leisure exercise, smoking and personal attention paid to keeping a healthy diet. Data were gathered with a self-administered quantitative food-frequency questionnaire distributed to a representative sample of Norwegian men and women aged 16-79 years in a national dietary survey, of whom 3144 subjects (63 %) responded. Age and female sex were positively associated with indicators for healthy dietary habits. By separate evaluation length of education, regular physical leisure exercise and degree of attention paid to keeping a healthy diet were positively associated with all four indicators for healthy dietary habits in both sexes. Socio-economic status, location of residence and smoking habits were associated with from one to three indicators for healthy dietary habits. In a multiple regression model, age, education and location of residence together explained from 1 to 9 % of the variation (R 2 ) in the four dietary indicators. Length of education was significantly associated with three of four dietary indicators both among men and women. By including the variable 'attention paid to keeping a healthy diet' in the model, R 2 increased to between 4 and 15 % for the four dietary indicators. Length of education remained correlated to three dietary indicators among women, and one indicator among men, after adjusting for attention to healthy diet, age and location of residence. Residence in cities remained correlated to two indicators among men, but none among women, after adjusting for age, education and attention to healthy diet. In conclusion, education was associated with indicators of a healthy diet. Attention to healthy diet showed the strongest and most consistent association with all four indicators for healthy dietary habits in both sexes. This suggests that personal preferences may be just as important for having a healthy diet as social status determinants. Diet: Social status: LifestyleDietary factors such as total fat, saturated fatty acids and salt are associated with increased risk of cardiovascular diseases and cancer, whereas fibre, fruits and vegetables may decrease this risk (Department
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