Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or  ≥90 mm Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

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, 19 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 biological pathways

Lumicons: mapping light patterns to information classes

Comunicació presentada a la Mensch und Computer 2015, conferència celebrada del 6 al 9 de setembre de 2015 a Stuttgart, Alemanya.The current development of ambient light systems lacks an evaluation and guidelines in the design process. We present a study design with two complementary parts, which aims to fill the gaps in the understanding of information encoding via light. In the first part of our study we want to find out light patterns that represent different types of everyday information, and in the second part we want to verify the appropriate mappings of these light patterns suggested by participants. An appropriate mapping of the light pattern should be perceptible and distinct with a degree of attention arousal and aesthetic appearance. The goal of the study is to derive light patterns and guidelines for building new light systems and applications.This research has been performed with support from the BMBF project LUMICONS 16SV7162K

Towards new ambient light systems: a close look at existing encodings of ambient light systems

Ambient systems provide information in the periphery of a user’s attention. Their aim is to present information as unobtrusively as possible to avoid interrupting primary tasks (e.g. writing or reading). In recent years, light has been used to create ambient systems to display information. Examples of ambient light systems range from simple notification systems such as displaying messages or calendar event reminders, to more complex systems such as focusing on conveying information regarding health activity tracking. However, for ambient light systems, there is a broad design space that lacks guidelines on when to make use of light displays and how to design them. In this paper we provide a systematic overview of existing ambient light systems over four identified information classes derived from 72 existing ambient light systems. The most prominent encoding parameters among the surveyed ambient light systems are color, brightness, and their combination. By analyzing existing ambient light systems, we provide a first step towards developing guidelines for designing future ambient light systems

Towards new ambient light systems: a close look at existing encodings of ambient light systems

Ambient systems provide information in the periphery of a user’s attention. Their aim is to present information as unobtrusively as possible to avoid interrupting primary tasks (e.g. writing or reading). In recent years, light has been used to create ambient systems to display information. Examples of ambient light systems range from simple notification systems such as displaying messages or calendar event reminders, to more complex systems such as focusing on conveying information regarding health activity tracking. However, for ambient light systems, there is a broad design space that lacks guidelines on when to make use of light displays and how to design them. In this paper we provide a systematic overview of existing ambient light systems over four identified information classes derived from 72 existing ambient light systems. The most prominent encoding parameters among the surveyed ambient light systems are color, brightness, and their combination. By analyzing existing ambient light systems, we provide a first step towards developing guidelines for designing future ambient light systems

Lumicons: mapping light patterns to information classes

Comunicació presentada a la Mensch und Computer 2015, conferència celebrada del 6 al 9 de setembre de 2015 a Stuttgart, Alemanya.The current development of ambient light systems lacks an evaluation and guidelines in the design process. We present a study design with two complementary parts, which aims to fill the gaps in the understanding of information encoding via light. In the first part of our study we want to find out light patterns that represent different types of everyday information, and in the second part we want to verify the appropriate mappings of these light patterns suggested by participants. An appropriate mapping of the light pattern should be perceptible and distinct with a degree of attention arousal and aesthetic appearance. The goal of the study is to derive light patterns and guidelines for building new light systems and applications.This research has been performed with support from the BMBF project LUMICONS 16SV7162K

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

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, 19 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 biological pathways

A century of trends in adult human height

International audienc

Worldwide trends in blood pressure from 1975 to 2015:a pooled analysis of 1479 population-based measurement studies with 19.1 million participants

Abstract Background: Raised blood pressure is an important risk factor for cardiovascular diseases and chronic kidney disease. We estimated worldwide trends in mean systolic and mean diastolic blood pressure, and the prevalence of, and number of people with, raised blood pressure, defined as systolic blood pressure of 140 mm Hg or higher or diastolic blood pressure of 90 mm Hg or higher. Methods: For this analysis, we pooled national, subnational, or community population-based studies that had measured blood pressure in adults aged 18 years and older. We used a Bayesian hierarchical model to estimate trends from 1975 to 2015 in mean systolic and mean diastolic blood pressure, and the prevalence of raised blood pressure for 200 countries. We calculated the contributions of changes in prevalence versus population growth and ageing to the increase in the number of adults with raised blood pressure. Findings: We pooled 1479 studies that had measured the blood pressures of 19.1 million adults. Global age-standardised mean systolic blood pressure in 2015 was 127.0 mm Hg (95% credible interval 125.7–128.3) in men and 122.3 mm Hg (121.0–123.6) in women; age-standardised mean diastolic blood pressure was 78.7 mm Hg (77.9–79.5) for men and 76.7 mm Hg (75.9–77.6) for women. Global age-standardised prevalence of raised blood pressure was 24.1% (21.4–27.1) in men and 20.1% (17.8–22.5) in women in 2015. Mean systolic and mean diastolic blood pressure decreased substantially from 1975 to 2015 in high-income western and Asia Pacific countries, moving these countries from having some of the highest worldwide blood pressure in 1975 to the lowest in 2015. Mean blood pressure also decreased in women in central and eastern Europe, Latin America and the Caribbean, and, more recently, central Asia, Middle East, and north Africa, but the estimated trends in these super-regions had larger uncertainty than in high-income super-regions. By contrast, mean blood pressure might have increased in east and southeast Asia, south Asia, Oceania, and sub-Saharan Africa. In 2015, central and eastern Europe, sub-Saharan Africa, and south Asia had the highest blood pressure levels. Prevalence of raised blood pressure decreased in high-income and some middle-income countries; it remained unchanged elsewhere. The number of adults with raised blood pressure increased from 594 million in 1975 to 1.13 billion in 2015, with the increase largely in low-income and middle-income countries. The global increase in the number of adults with raised blood pressure is a net effect of increase due to population growth and ageing, and decrease due to declining age-specific prevalence. Interpretation: During the past four decades, the highest worldwide blood pressure levels have shifted from high-income countries to low-income countries in south Asia and sub-Saharan Africa due to opposite trends, while blood pressure has been persistently high in central and eastern Europe