Genetic studies of body mass index yield new insights for obesity biology
A genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals provide strong support for a role of the central nervous system in obesity susceptibility.
Discovery and Refinement of Loci Associated with Lipid Levels
It is found that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index.
New genetic loci link adipose and insulin biology to body fat distribution
A genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
Combining 32 genome-wide association studies with high-density imputation provides a comprehensive view of the genetic contribution to type 2 diabetes in individuals of European ancestry with respect to locus discovery, causal-variant resolution, and mechanistic insight.
Common variants associated with plasma triglycerides and risk for coronary artery disease
It is suggested that triglyceride-rich lipoproteins causally influence risk for CAD, and the strength of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk.
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk
This study demonstrates that systematic assessment of coding variation can quickly point to a candidate causal gene within a locus previously known as NCAN-CILP2-PBX4 or 19p13.
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
It is suggested that many of the putative atrial fibrillation genes act via cardiac structural remodeling, potentially in the form of an ‘atrial cardiomyopathy’2, either during fetal heart development or as a response to stress in the adult heart.
GREGOR: evaluating global enrichment of trait-associated variants in epigenomic features using a systematic, data-driven approach
Using variants from five phenotypes, a data-driven approach is described to determine the tissue and cell types most relevant to a trait of interest and to identify the subset of regulatory features likely impacted by these variants.
Exome-wide association study of plasma lipids in >300,000 individuals
It is found that beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD), and only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and TG-lowering alleles involved in hepatic production of TG-rich lipoproteins tracked with higher liver fat, higher risk for T2D, and lower risk for CAD.
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
The 66-SNP blood pressure risk score was significantly associated with target organ damage in multiple tissues but with minor effects in the kidney, expanding current knowledge of blood pressure–related pathways and highlighting tissues beyond the classical renal system in blood pressure regulation.