Genomes and Genes
Affiliation: Imperial College
- Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous neviMario Falchi
Department of Twin Research and Genetic Epidemiology, Kings College London, St Thomas Hospital Campus, London, UK
Nat Genet 41:915-9. 2009..1, combined P = 2.6 x 10(-7), OR = 1.23 (95% CI = 1.15-1.30). This provides the first report of common variants associated to nevus number and demonstrates association of these variants with melanoma susceptibility...
- Jenti: an efficient tool for mining complex inbred genealogiesMario Falchi
Twin Research and Genetic Epidemiology Unit, Kings College London, UK
Bioinformatics 24:724-6. 2008..Additionally it allows for the reconstruction of sub-pedigrees suitable for genetic mapping in a systematic way...
- Identification of quantitative trait loci for fibrin clot phenotypes: the EuroCLOT studyFrances M K Williams
Department of Twin Research and Genetic Epidemiology, King s College London, St Thomas Hospital, London, UK
Arterioscler Thromb Vasc Biol 29:600-5. 2009..The aims of the current study from the EU consortium EuroCLOT were to (1) determine the heritability of fibrin phenotypes and (2) identify QTLs associated with fibrin phenotypes...
- Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous populationSadia Saeed
Department of Genomics of Common Disease, Imperial College London, London, UK
Obesity (Silver Spring) 23:1687-95. 2015..Here we describe the incidence of obesity-associated mutations through a step-wise sequence analysis, in a cohort of 73 Pakistani children with severe obesity from consanguineous families...
- Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesityJulia S El-Sayed Moustafa
Department of Genomics of Common Disease, School of Public Health Inperial College, London, W12 ONN, UK
Hum Mol Genet 21:3727-38. 2012..These findings highlight the potential role of DOCK5 in human obesity and illustrate a novel approach for analysis of the contribution of VNTRs to disease susceptibility through association studies...
- The relationship between DXA-based and anthropometric measures of visceral fat and morbidity in womenKenan Direk
Department of Twin Research and Genetic Epidemiology, London, UK
BMC Cardiovasc Disord 13:25. 2013..Study aims were to a) identify a valid DXA-based measure of visceral adipose tissue (VAT), b) estimate VAT heritability and c) assess visceral fat association with morbidity in relation to body fat distribution...
- Association of sirtuin 1 (SIRT1) gene SNPs and transcript expression levels with severe obesityStephen J Clark
Department of Genomics of Common Diseases, School of Public Health, Imperial College London, Hammersmith Hospital, London, UK
Obesity (Silver Spring) 20:178-85. 2012..However, no SNP was associated with SIRT1 transcript expression level. In summary, both SNPs and SIRT1 gene expression are associated with severe obesity...
- Quantitative linkage analysis for pancreatic B-cell function and insulin resistance in a large twin cohortMario Falchi
Twin Research and Genetic Epidemiology Unit, St Thomas Campus, King s College London School of Medicine, London, UK
Diabetes 57:1120-4. 2008..The recent nonlinear computer version of homeostasis model assessment (HOMA)2 provides an appropriate and convenient assessment of glucose metabolism, enabling gene-mapping studies in large population samples...
- Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemiaChris Wallace
Clinical Pharmacology and The Genome Centre, Barts and The London, Queen Mary s School of Medicine and Dentistry, London, EC1M 6BQ, UK
Am J Hum Genet 82:139-49. 2008..This finding provides a potential biological mechanism for the recent association of this same allele of the same SNP with increased risk of coronary disease...
- Nevus size and number are associated with telomere length and represent potential markers of a decreased senescence in vivoVeronique Bataille
Twin Research and Genetic Epidemiology Unit, King s College London, St Thomas Hospital Campus, London SE1 7EH, United Kingdom
Cancer Epidemiol Biomarkers Prev 16:1499-502. 2007..Understanding mechanisms influencing the induction and involution of nevi will not only help in understanding the pathophysiology of melanoma but should also shed light on the complex relationship between aging and cancer...
- Analysis of quantitative trait lociMario Falchi
Twin Research and Genetic Epidemiology Unit, King s College London School of Medicine, London, United Kingdom
Methods Mol Biol 453:297-326. 2008..This chapter provides an introduction to classical and recent strategies for mapping quantitative trait loci in humans...
- Genome-wide search for nevus density shows linkage to two melanoma loci on chromosome 9 and identifies a new QTL on 5q31 in an adult twin cohortMario Falchi
Twin Research and Genetic Epidemiology Unit, St Thomas Campus, Kings College London, London SE1 7EH, UK
Hum Mol Genet 15:2975-9. 2006..They provide both novel and replicated QTLs for nevus development, some of which might overlap with those for melanoma and warrant detailed investigation...
- Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencingSadia Saeed
Department of Genomics of Common Disease, Imperial College London, London, UK
Obesity (Silver Spring) 22:1112-7. 2014..One-step PCR-based targeted enrichment could be an option for rapid and cost effective molecular diagnosis of monogenic forms of obesity...
- Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control studyDaniel G Healy
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
Lancet Neurol 7:583-90. 2008..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?..
- Metabolomic Profile of Low Copy-Number Carriers at the Salivary Alpha-Amylase Gene Suggests a Metabolic Shift Towards Lipid-Based Energy ProductionAbdelilah Arredouani
Hamad Ben Khalifa University, Qatar Biomedical Research Institute, Diabetes Research Centre, Qatar Foundation, Doha, Qatar Department of Twin Research and Genetic Epidemiology, King s College London, St Thomas Hospital Campus, London, UK
Diabetes . 2016..Our observations are in line with previously-reported delayed glucose uptake in LA carriers after starch consumption. Further functional studies are needed to extrapolate from our findings to implications for biochemical pathways...
- Changes in levels of peripheral hormones controlling appetite are inconsistent with hyperphagia in leptin-deficient subjectsSadia Saeed
Department of Genomics of Common Disease, Hammersmith Hospital, Imperial College London, Burlington Danes Building, Du Cane Road, London, W12 0NN, UK
Endocrine 45:401-8. 2014..In contrast, fasting and postprandial levels of gut hormones in heterozygous mutation carriers were comparable to those of normal-weight controls...
- famCNV: copy number variant association for quantitative traits in familiesHariklia Eleftherohorinou
Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, St Mary s Hospital, London, UK
Bioinformatics 27:1873-5. 2011..Intensity signals that act as proxies for the number of copies are modeled in a variance component framework and association with traits is assessed through formal likelihood testing...
- PowQ: a user-friendly package for the design of variance component multipoint linkage analysis studiesMario Falchi
Twin Research and Genetic Epidemiology Unit, St Thomas Hospital London, UK
Bioinformatics 22:1404-5. 2006..A user-friendly, graphical package for power evaluation and enhancement planning through variance component linkage analysis in a multipoint framework...
- PedVizApi: a Java API for the interactive, visual analysis of extended pedigreesChristian Fuchsberger
Institute of Genetic Medicine, European Academy, Bolzano, Italy
Bioinformatics 24:279-81. 2008..An extensive demo application and a R interface is provided...