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Genetics of Triglycerides and the Risk of Atherosclerosis

), and Genome Canada through Genome Quebec (award 4530). Compliance with Ethical Standards Conflict of Interest Jacqueline S. Dron declares no conflicts of interest. Robert A. Hegele declares honoraria

Genetics of Lipid and Lipoprotein Disorders and Traits

Jacqueline S. Dron declares that she has no conflict of interest. Robert A. Hegele is a consultant and speaker’s bureau member for Aegerion, Amgen, Sanofi, Pfizer, and Valeant. Human and Animal Rights and

Statin Safety in Chinese: A Population-Based Study of Older Adults

Background Compared to Caucasians, Chinese achieve a higher blood concentration of statin for a given dose. It remains unknown whether this translates to increased risk of serious statin-associated adverse events amongst Chinese patients. Methods We conducted a population-based retrospective cohort study of older adults (mean age, 74 years) newly prescribed a statin in Ontario...

Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)

Background Mice with a deleted Gpihbp1 gene encoding glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) develop severe chylomicronemia. We screened the coding regions of the human homologue – GPIHBP1 – from the genomic DNA of 160 unrelated adults with fasting chylomicronemia and plasma triglycerides >10 mmol/L, each of whom had normal...

Gene-gene and gene-environment interactions: new insights into the prevention, detection and management of coronary artery disease

Despite the recent success of genome-wide association studies (GWASs) in identifying loci consistently associated with coronary artery disease (CAD), a large proportion of the genetic components of CAD and its metabolic risk factors, including plasma lipids, type 2 diabetes and body mass index, remain unattributed. Gene-gene and gene-environment interactions might produce a...

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families

Significant resources have been invested in sequencing studies to investigate the role of rare variants in complex disease etiology. However, the diagnostic interpretation of individual rare variants remains a major challenge, and may require accurate variant functional classification and the collection of large numbers of variant carriers. Utilizing sequence data from 458...

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder

Background To elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing. Methods and results We identified four individuals with an autosomal recessive condition affecting the central nervous system (CNS). Neuroimaging studies identified progressive global CNS tissue loss presenting...

Causal Relationship between Adiponectin and Metabolic Traits: A Mendelian Randomization Study in a Multiethnic Population

Background Adiponectin, a secretagogue exclusively produced by adipocytes, has been associated with metabolic features, but its role in the development of the metabolic syndrome remains unclear. Objectives We investigated the association between serum adiponectin level and metabolic traits, using both observational and genetic epidemiologic approaches in a multiethnic population...

Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report

Fantus 0 Robert A Hegele 1 0 Mount Sinai Hospital , Lebovic Building, Rm 5-028 , University of Toronto , Toronto, Ontario, M5T 3L9 , Canada 1 Blackburn Cardiovascular Genetics Laboratory , Room 4-07

Transcriptional Profiling of Endocrine Cerebro-Osteodysplasia Using Microarray and Next-Generation Sequencing

A. Hegele 0 Joseph El Khoury, Massachusetts General Hospital and Harvard Medical School, United States of America 0 1 Robarts Research Institute , London, Ontario , Canada , 2 Department of Medicine

Abetalipoproteinemia: two case reports and literature review

Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene...

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

Background Mice with a deleted Cav1 gene encoding caveolin-1 develop adipocyte abnormalities and insulin resistance. From genomic DNA of patients with atypical lipodystrophy and hypertriglyceridemia who had no mutations in any known lipodystrophy gene, we used DNA sequence analysis to screen the coding regions of human CAV1 (MIM 601047). Results We found a heterozygous frameshift...

Intellectual disability associated with a homozygous missense mutation in THOC6

Chandree L Beaulieu 0 Lijia Huang 0 A Micheil Innes Marie-Andree Akimenko Erik G Puffenberger Charles Schwartz Paul Jerry Carole Ober Robert A Hegele D Ross McLeod Jeremy Schwartzentruber FORGE

Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population

A Hegele Vronique Boiteau Ariane Dub-Linteau Belkacem Abdous Franoise Proust Yves Gigure Pierre Julien 0 Marie-Ludivine Chteau-Degat Marie-Claude Vohl 0 1 0 Laboratory of Endocrinology and Nephrology

BRCA2 Variants and cardiovascular disease in a multi-ethnic study

BackgroundGermline mutations of BRCA1/2 are associated with hereditary breast and ovarian cancer. Recent data suggests excess mortality in mutation carriers beyond that conferred by neoplasia, and recent in vivo and in vitro studies suggest a modulatory role for BRCA proteins in endothelial and cardiomyocyte function. We therefore tested the association of BRCA2 variants with...

HNF1A G319S variant, active cigarette smoking and incident type 2 diabetes in Aboriginal Canadians: a population-based epidemiological study

Background In a recent report of large-scale association analysis, a type 2 diabetes susceptibility locus near HNF1A was identified in predominantly European descent populations. A population-specific G319S polymorphism in HNF1A was previously identified in Aboriginal Canadians who have a high prevalence of type 2 diabetes. We aimed to investigate the association of the HNF1A...

NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe

Background NPC1L1 encodes a putative intestinal sterol transporter which is the likely target for ezetimibe, a new type of lipid-lowering medication. We previously reported rare non-synonymous mutations in NPC1L1 in an individual who had no plasma lipoprotein response to ezetimibe. We next hypothesized that common variants in NPC1L1 would underlie less extreme inter-individual...

Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy

Henian Cao 0 Robert A. Hegele 0 0 Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute , 406-100 Perth Drive, London, Ontario , Canada N6A 5K8 Patients with Dunnigan-type