-
Article
Open AccessDiscovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals
The genetic etiology of human lipid quantitative traits is not fully elucidated, and interactions between variants may play a role. We performed a gene-centric interaction study for four different lipid traits...
-
Article
Open AccessD25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile
Apolipoprotein C-III deficiency provides cardiovascular protection, but apolipoprotein C-III is not known to be associated with human amyloidosis. Here we report a form of amyloidosis characterized by renal in...
-
Article
Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Nature Communications 5: Article number: 4871 (2015); Published 16 September 2014; Updated 12 May 2015 During the production of this Article, errors were introduced in the frequencies of the variants rs964184-...
-
Article
Open AccessA rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
The analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele ...
-
Article
Identification of seven loci affecting mean telomere length and their association with disease
Nilesh Samani and colleagues report a meta-analysis of genome-wide association studies for mean leukocyte telomere length in 37,684 individuals, with replication of selected variants in an additional 10,739 in...
-
Article
A common single-nucleotide variant in T is strongly associated with chordoma
Adrienne Flanagan and colleagues identify a common variant in the T gene associated with strong risk of chordoma, a rare malignant bone tumor. The risk variant alters an amino acid in the DNA-binding domain of th...
-
Article
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile
Ruth Loos and colleagues use genome-wide association to identify common variants influencing body fat percentage. Unexpectedly, they show that a body-fat–decreasing allele near IRS1 is associated with an impaired...
-
Article
Open AccessANGPTL4 variants E40K and T266M are associated with lower fasting triglyceride levels in Non-Hispanic White Americans from the Look AHEAD Clinical Trial
Elevated triglyceride levels are a risk factor for cardiovascular disease. Angiopoietin-like protein 4 (Angptl4) is a metabolic factor that raises plasma triglyceride levels by inhibiting lipoprotein lipase (L...
-
Article
Utility of genetic determinants of lipids and cardiovascular events in assessing risk
Genetic testing is an attractive tool for CHD risk prediction; however, the process of harnessing genetic information to improve population health is in its infancy. In this article, Dr Holmes and colleagues d...
-
Article
Open AccessAPOE/C1/C4/C2 Gene Cluster Genotypes, Haplotypes and Lipid Levels in Prospective Coronary Heart Disease Risk Among UK Healthy Men
The role of common APOE variants on plasma lipids, particularly low density lipoprotein (LDL) levels, and coronary heart disease (CHD) risk is well known; the influence of variation in the other nearby apolipopro...
-
Article
ADIPOQ gene polymorphism rs1501299 interacts with fibre intake to affect adiponectin concentration in children: the GENe–Diet Attica Investigation on childhood obesity
Adiponectin, an adipose-derived hormone with central and peripheral actions, is involved in the regulation of energy homeostasis. Interactions between genetic and environmental factors have been associated wit...
-
Article
Open AccessThe association of telomere length with paternal history of premature myocardial infarction in the European Atherosclerosis Research Study II
Inter-individual variability in telomere length is highly heritable and has been correlated with risk of coronary heart disease (CHD). Our aim was to determine the association of mean leukocyte telomere length...
-
Article
Common variants in the TCF7L2 gene and predisposition to type 2 diabetes in UK European Whites, Indian Asians and Afro-Caribbean men and women
Common variants of TCF7L2, encoding a β-cell-expressed transcription factor, are strongly associated with increased risk of type 2 diabetes (T2D). We examined this association using both prospective and case-cont...
-
Article
Variation in the lipoprotein lipase gene influences exercise-induced left ventricular growth
The adult heart relies predominantly on fatty acids (FA) for energy generation, and defects in FA catabolism cause dramatic left ventricular (LV) growth in early age. Since lipoprotein lipase (LPL) is the key ...
-
Article
Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels
A G-to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipoprotein B100 and causes a loss of an MspI site....
-
Chapter
Genetic Evidence that the Apolipoprotein Gene is not Involved in Abetalipoproteinemia
Elevated serum levels of apo B-containing lipoproteins are associated with risk of Ischaemic Heart Disease1, therefore factors controlling apo B synthesis in the liver and intestine are important to our understan...
-
Chapter
Use of DNA Polymorphisms to Investigate the Role of Apolipoprotein B in the Determination of Serum Cholesterol Levels
We have investigated the frequencies of two restriction fragment length polymorphisms (RFLPs) of the apo B gene in normo-and hyperlipidemic individuals. In individuals with type III hyperlipidemia, the allele ...
