Mechanisms of disease: The human N-glycome.
Biochimica et Biophysica Acta 1860(8):1574 (2016)
The majority of human proteins are being modified by covalent attachment of complex oligosaccharides--glycans. Both glycans and polypeptide parts of a protein contribute to its structure and function, but contrary to polypeptide that is defined by the sequence of nucleotides in the corresponding...
Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.
Nature Genetics 48(8):970 (2016)
Profiling IgG N-glycans as potential biomarker of chronological and biological ages: A community-based study in a Han Chinese population.
Medicine (Baltimore) 95(28):e4112 (2016)
As an important post-translation modifying process, glycosylation significantly affects the structure and function of immunoglobulin G (IgG) molecules and is essential in many steps of the inflammatory cascade. Studies have demonstrated the potential of using glycosylation features of IgG as a c...
Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.
Journal of Medical Genetics 53(7):441 (2016)
So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we a...
An Empirical Comparison of Joint and Stratified Frameworks for Studying G × E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene-Lifestyle Interactions Working Group.
Genetic Epidemiology 40(5):404 (2016)
Studying gene-environment (G × E) interactions is important, as they extend our knowledge of the genetic architecture of complex traits and may help to identify novel variants not detected via analysis of main effects alone. The main statistical framework for studying G × E interactions uses a s...
Structure, function and five basic needs of the global health research system.
Journal of global health 6(1):010505 (2016)
Two major initiatives that were set up to support and co-ordinate global health research efforts have been largely discontinued in recent years: the Global Forum for Health Research and World Health Organization's Department for Research Policy and Cooperation. These developments provide an inte...
Setting health research priorities using the CHNRI method: VI. Quantitative properties of human collective opinion.
Journal of Global Health 6(1):010503 (2016)
Crowdsourcing has become an increasingly important tool to address many problems - from government elections in democracies, stock market prices, to modern online tools such as TripAdvisor or Internet Movie Database (IMDB). The CHNRI method (the acronym for the Child Health and Nutrition Researc...
Guidelines for Accurate and Transparent Health Estimates Reporting: the GATHER statement.
PLOS Medicine 13(6):e1002056 (2016)
Gretchen Stevens and colleagues present the GATHER statement, which seeks to promote good practice in the reporting of global health estimates.
Setting health research priorities using the CHNRI method: I. Involving funders.
Journal of global health 6(1):010301 (2016)
Setting research priorities to improve global newborn health and prevent stillbirths by 2025.
Journal of global health 6(1):010508 (2016)
In 2013, an estimated 2.8 million newborns died and 2.7 million were stillborn. A much greater number suffer from long term impairment associated with preterm birth, intrauterine growth restriction, congenital anomalies, and perinatal or infectious causes. With the approaching deadline for the a...
Setting health research priorities using the CHNRI method: IV. Key conceptual advances.
Journal of Global Health 6(1):010501 (2016)
Child Health and Nutrition Research Initiative (CHNRI) started as an initiative of the Global Forum for Health Research in Geneva, Switzerland. Its aim was to develop a method that could assist priority setting in health research investments. The first version of the CHNRI method was published i...
Setting health research priorities using the CHNRI method: V. Quantitative properties of human collective knowledge.
Journal of Global Health 6(1):010502 (2016)
The CHNRI method for setting health research priorities has crowdsourcing as the major component. It uses the collective opinion of a group of experts to generate, assess and prioritize between many competing health research ideas. It is difficult to compare the accuracy of human individual and ...
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.
Nature Genetics 48(6):624 (2016)
Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conduc...
Genome-wide association study identifies 74 loci associated with educational attainment.
Nature 533(7604):539 (2016)
Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends...
The Association Between Glycosylation of Immunoglobulin G and Hypertension: A Multiple Ethnic Cross-Sectional Study.
Medicine (Baltimore) 95(17):e3379 (2016)
More than half of all known proteins, and almost all membrane and extra-cellular proteins have oligosaccharide structures or glycans attached to them. Defects in glycosylation pathways are directly involved in at least 30 severe human diseases.A multiple center cross-sectional study (China, Croa...
Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
Diabetes 65(3):803 (2016)
Elevated concentrations of albumin in the urine, albuminuria, are a hallmark of diabetic kidney disease and are associated with an increased risk for end-stage renal disease and cardiovascular events. To gain insight into the pathophysiological mechanisms underlying albuminuria, we conducted met...
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily.
European Journal of Human Genetics 24(3):429 (2016)
Greek colonisation of South Italy and Sicily (Magna Graecia) was a defining event in European cultural history, although the demographic processes and genetic impacts involved have not been systematically investigated. Here, we combine high-resolution surveys of the variability at the uni-parent...
Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium.
Behavior Genetics 46(2):170 (2016)
Extraversion is a relatively stable and heritable personality trait associated with numerous psychosocial, lifestyle and health outcomes. Despite its substantial heritability, no genetic variants have been detected in previous genome-wide association (GWA) studies, which may be due to relatively...
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
Human Molecular Genetics 25(2):358 (2016)
Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentration. These studies used HapMap imputation and did not examine the X-chromosome. 1000 Genomes imputation provides better coverage of uncommon variants, and includes indels. ...
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Nature Communications 7:10023 (2016)
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 replica...