Gavin Lucas
A5065084628- Genetic Associations and Epidemiology
- Cancer-related Molecular Pathways
- Bone health and treatments
- Diet, Metabolism, and Disease
- Cardiovascular Function and Risk Factors
- Birth, Development, and Health
- Epigenetics and DNA Methylation
- Lipoproteins and Cardiovascular Health
- Bone Metabolism and Diseases
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- Cardiomyopathy and Myosin Studies
- Cardiovascular Disease and Adiposity
- Ubiquitin and proteasome pathways
- Bioinformatics and Genomic Networks
- Nutrition, Genetics, and Disease
- Liver Disease Diagnosis and Treatment
- Estrogen and related hormone effects
- Bone health and osteoporosis research
- Hormonal Regulation and Hypertension
- Genetic Syndromes and Imprinting
- Adipokines, Inflammation, and Metabolic Diseases
- Cholesterol and Lipid Metabolism
- NF-κB Signaling Pathways
- Microtubule and mitosis dynamics
Barcelona Biomedical Research Park
2011-2016
Universitat Pompeu Fabra
2011-2016
Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública
2011-2016
Health Net
2016
University of Tartu
2016
Universidad de La Laguna
2016
New York Academy of Medicine
2016
Centre for Biomedical Network Research on Rare Diseases
2016
Finnish Institute for Health and Welfare
2016
Hospital Del Mar
2009-2014
Hypertension is a heritable and major contributor to the global burden of disease. The sum rare common genetic variants robustly identified so far explain only 1%–2% population variation in BP hypertension. This suggests existence more undiscovered variants. We conducted genome-wide association study 1,621 hypertensive cases 1,699 controls follow-up validation analyses 19,845 16,541 using an extreme case-control design. locus on chromosome 16 5′ region Uromodulin (UMOD; rs13333226, combined...
Abstract Three novel missense mutations of SQSTM1 were identified in familial PDB, all affecting the UBA domain. Functional and structural analysis showed that disease severity was related to type mutation but unrelated polyubiquitin-binding properties mutant domain peptides. Introduction: Mutations ubiquitin-associated (UBA) Sequestosome 1 (SQSTM1) gene have recently been as a common cause Paget's bone (PDB), mechanisms responsible are unclear. We three conducted functional analyses...
Abstract Mutations in the UBA domain of SQSTM1 are a common cause Paget's disease bone. Here we show that most disease-causing mutation (P392L) is carried on shared haplotype, consistent with founder effect and ancestral origin. Introduction: bone (PDB) condition strong genetic component. affecting ubiquitin-associated (UBA) sequestosome 1 (SQSTM1) have recently been shown to be an important PDB. The results proline leucine amino acid change at codon 392 (P392L), evidence has presented...
Abstract Mutations of SQSTM1 are an important cause PDB, but other genes remain to be discovered. A major susceptibility locus for PDB was identified on chromosome 10p13 by a genome-wide linkage scan in families British descent, which accounted the vast majority cases not caused mutations. Introduction: Paget's disease bone (PDB) has strong genetic component, and several loci have been scans. We previously three using this approach chromosomes 5q35, 2q36, 62 mainly subsequently, mutations...
AimsThe TRPC4 non-selective cation channel is widely expressed in the endothelium, where it generates Ca2+ signals that participate endothelium-mediated vasodilatory response. This study sought to identify single-nucleotide polymorphisms (SNPs) gene are associated with myocardial infarction (MI).
Objectives To identify genetic determinants of susceptibility to clinical vertebral fractures, which is an important complication osteoporosis. Methods Here we conduct a genome-wide association study in 1553 postmenopausal women with fractures and 4340 controls, two-stage replication involving 1028 cases 3762 controls. Potentially causal variants were identified using expression quantitative trait loci (eQTL) data from transiliac bone biopsies bioinformatic studies. Results A locus tagged by...
Abstract Background Copy number variants (CNV) are a potentially important component of the genetic contribution to risk common complex diseases. Analysis association between CNVs and disease requires that uncertainty in CNV copy-number calls, which can be substantial, taken into account; failure consider this lead biased results. Therefore, there is need develop use appropriate statistical tools. To address issue, we have developed , an R package for carrying out analysis copy...
The genetic loci that have been found by genome-wide association studies to modulate risk of coronary heart disease explain only a fraction its total variance, and gene-gene interactions proposed as potential source the remaining heritability. Given potentially large testing burden, we sought enrich our search space with real analyzing variants may be more likely interact on basis two distinct hypotheses: biological hypothesis, under which MI is modulated between are known relevant for...