Philippa J Talmud

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi How to identify gene-environment interactions in a multifactorial disease: CHD as an example
    Philippa J Talmud
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College London Medical School, London WC1E 6JF, UK
    Proc Nutr Soc 63:5-10. 2004
  2. ncbi Age-related effects of genetic variation on lipid levels: The Columbia University BioMarkers Study
    P J Talmud
    Center for Cardiovascular Genetics, Department of Medicine, Royal Free and University College London Medical School, London, United Kingdom
    Pediatrics 108:E50. 2001
  3. ncbi Variation in the promoter of the human hormone sensitive lipase gene shows gender specific effects on insulin and lipid levels: results from the Ely study
    P J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, The Rayne Institute, London, UK
    Biochim Biophys Acta 1537:239-44. 2001
  4. ncbi Gene:environment interaction in lipid metabolism and effect on coronary heart disease risk
    Philippa J Talmud
    Cardiovascular Genetics, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College London Medical School, London, UK
    Curr Opin Lipidol 13:149-54. 2002
  5. ncbi Rare APOA5 mutations--clinical consequences, metabolic and functional effects: an ENID review
    Philippa J Talmud
    Centre for Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College London Medical School, 5 University Street, London WC1E 6JF, UK
    Atherosclerosis 194:287-92. 2007
  6. ncbi Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men
    P J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Loboratories, Rayne Building, Royal Free and University College Medical School, 5 University St, London WCIE 6JJ, UK
    Ann Hum Genet 66:111-24. 2002
  7. ncbi Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides
    Philippa J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University Street, London WC1E 6JJ, UK
    Hum Mol Genet 11:3039-46. 2002
  8. ncbi The apolipoprotein A-V genotype and plasma apolipoprotein A-V and triglyceride levels: prospective risk of type 2 diabetes. Results from the Northwick Park Heart Study II
    P J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, 5 University Street, London, WC1E 6JF, UK
    Diabetologia 49:2337-40. 2006
  9. ncbi Association of the hormone sensitive lipase -60C > G variant with fasting insulin levels in healthy young men
    P J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, London, UK
    Nutr Metab Cardiovasc Dis 12:173-7. 2002
  10. ncbi The significant increase in cardiovascular disease risk in APOEepsilon4 carriers is evident only in men who smoke: potential relationship between reduced antioxidant status and ApoE4
    P J Talmud
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Rayne Building, University College London, 5 University St, London WC1E 6JF, United Kingdom
    Ann Hum Genet 69:613-22. 2005

Detail Information

Publications104 found, 100 shown here

  1. ncbi How to identify gene-environment interactions in a multifactorial disease: CHD as an example
    Philippa J Talmud
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College London Medical School, London WC1E 6JF, UK
    Proc Nutr Soc 63:5-10. 2004
    ..001), showing the context dependency of the effect. Thus, the importance of considering environmental factors as potential genotype-risk modifiers has major public health implications...
  2. ncbi Age-related effects of genetic variation on lipid levels: The Columbia University BioMarkers Study
    P J Talmud
    Center for Cardiovascular Genetics, Department of Medicine, Royal Free and University College London Medical School, London, United Kingdom
    Pediatrics 108:E50. 2001
    ..To examine the genotype:phenotype association in children compared with their parents...
  3. ncbi Variation in the promoter of the human hormone sensitive lipase gene shows gender specific effects on insulin and lipid levels: results from the Ely study
    P J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, The Rayne Institute, London, UK
    Biochim Biophys Acta 1537:239-44. 2001
    ....
  4. ncbi Gene:environment interaction in lipid metabolism and effect on coronary heart disease risk
    Philippa J Talmud
    Cardiovascular Genetics, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College London Medical School, London, UK
    Curr Opin Lipidol 13:149-54. 2002
    ..We end on a cautionary note for the need for repeat studies to confirm these reported gene:environment effects...
  5. ncbi Rare APOA5 mutations--clinical consequences, metabolic and functional effects: an ENID review
    Philippa J Talmud
    Centre for Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College London Medical School, 5 University Street, London WC1E 6JF, UK
    Atherosclerosis 194:287-92. 2007
    ..The insight these truncated protein give to the structure-function relationship of apoAV is explored and the relative importance of plasma and liver apoAV discussed...
  6. ncbi Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men
    P J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Loboratories, Rayne Building, Royal Free and University College Medical School, 5 University St, London WCIE 6JJ, UK
    Ann Hum Genet 66:111-24. 2002
    ....
  7. ncbi Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides
    Philippa J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University Street, London WC1E 6JJ, UK
    Hum Mol Genet 11:3039-46. 2002
    ..The molecular mechanisms for these effects remain to be determined...
  8. ncbi The apolipoprotein A-V genotype and plasma apolipoprotein A-V and triglyceride levels: prospective risk of type 2 diabetes. Results from the Northwick Park Heart Study II
    P J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, 5 University Street, London, WC1E 6JF, UK
    Diabetologia 49:2337-40. 2006
    ....
  9. ncbi Association of the hormone sensitive lipase -60C > G variant with fasting insulin levels in healthy young men
    P J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, London, UK
    Nutr Metab Cardiovasc Dis 12:173-7. 2002
    ..HSL is also expressed in pancreatic beta-cells where its activity may affect insulin secretion. We previously identified an HSL promoter variant, -60C > G, which in vitro exhibits 40% reduced promoter activity...
  10. ncbi The significant increase in cardiovascular disease risk in APOEepsilon4 carriers is evident only in men who smoke: potential relationship between reduced antioxidant status and ApoE4
    P J Talmud
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Rayne Building, University College London, 5 University St, London WC1E 6JF, United Kingdom
    Ann Hum Genet 69:613-22. 2005
    ....
  11. ncbi APOA5 gene variants, lipoprotein particle distribution, and progression of coronary heart disease: results from the LOCAT study
    Philippa J Talmud
    Centre for Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, UK
    J Lipid Res 45:750-6. 2004
    ..006 mm) in 19SS men (P = 0.08). There was no effect of genotype on the response of these parameters to gemfibrozil treatment. These results shed new light on the role of APOA5 variants in TG metabolism and coronary heart disease risk...
  12. ncbi Progression of atherosclerosis is associated with variation in the alpha1-antitrypsin gene
    Philippa J Talmud
    Centre for Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University St, London WC1E 6JF, UK
    Arterioscler Thromb Vasc Biol 23:644-9. 2003
    ..Alpha1-Antitrypsin (AAT) protects elastic tissue and may play a role in atherogenesis. The association of atherosclerosis progression with common AAT variants was considered in 2 clinical trials...
  13. ncbi Determination of the functionality of common APOA5 polymorphisms
    Philippa J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, 5 University Street, London WC1E 6JF, United Kingdom
    J Biol Chem 280:28215-20. 2005
    ..Alternatively, the effect on TG levels may reflect the strong linkage disequilibrium with the functional APOC3 SNPs...
  14. ncbi Gene: environment interactions and coronary heart disease risk
    Philippa J Talmud
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College London Medical School, London, UK
    World Rev Nutr Diet 93:29-40. 2004
  15. ncbi No APOEepsilon4 effect on coronary heart disease risk in a cohort with low smoking prevalence: the Whitehall II study
    Philippa J Talmud
    British Heart Foundation Laboratories, Department of Medicine, Centre for Cardiovascular Genetics, Rayne Building, University College London, 5 University Street, London WC1E 6JF, UK
    Atherosclerosis 177:105-12. 2004
    ..This supports the context dependency of the epsilon4 risk effect, but the low smoking incidence in the Whitehall men reduced our ability to examine a smoking:genotype interaction...
  16. ncbi Lipoprotein lipase gene variants and the effect of environmental factors on cardiovascular disease risk
    Philippa J Talmud
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Royal Free and University College Medical School, London, UK
    Diabetes Obes Metab 6:1-7. 2004
    ..Similarly at-risk subjects could be targeted with available therapies more appropriately...
  17. ncbi Genetic polymorphisms, lipoproteins and coronary artery disease risk
    P J Talmud
    Division of Cardiovascular Genetics, Dept Medicine, Royal Free and University College Medical School, London WC1E 6JJ, UK
    Curr Opin Lipidol 12:405-9. 2001
    ....
  18. ncbi The lipoprotein lipase gene serine 447 stop variant influences hypertension-induced left ventricular hypertrophy and risk of coronary heart disease
    Philippa J Talmud
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, The Rayne Building, Department of Medicine, Royal Free and University College Medical School, London, UK
    Clin Sci (Lond) 112:617-24. 2007
    ..007). In conclusion, hypertensive LPL X447 carriers have increased risk of LVH and CHD, suggesting that altered FA delivery constitutes a mechanism through which LVH and CHD are associated in hypertensive subjects...
  19. ncbi ANGPTL4 E40K and T266M: effects on plasma triglyceride and HDL levels, postprandial responses, and CHD risk
    Philippa J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, University College London Medical School, 5 University St, London WC1E 6JF, United Kingdom
    Arterioscler Thromb Vasc Biol 28:2319-25. 2008
    ..We examined the association of common ANGPTL4 variants with CHD traits and risk in 5 studies (13,527 individuals)...
  20. ncbi In-vivo and in-vitro nutrient-gene interactions
    P J Talmud
    Department of Medicine, Royal Free and University College London Medical School, UK
    Curr Opin Lipidol 11:31-6. 2000
    ..In addition, the effect of nutrients can be directly evaluated at the level of gene expression, and reports of in-vitro studies of control of fatty acid and triglycerides synthesis are discussed in the present review...
  21. ncbi Linkage of the cholesteryl ester transfer protein (CETP) gene to LDL particle size: use of a novel tetranucleotide repeat within the CETP promoter
    P J Talmud
    Centre for Genetics of Cardiovascular Disorders, Department of Medicine, UCL Medical School, The Rayne Institute, University Street, London, UK
    Circulation 101:2461-6. 2000
    ..CETP mediates the transfer of cholesteryl ester from HDL to apolipoprotein (apo) B-containing lipoproteins in exchange for TG, promoting reverse cholesterol transfer and remodeling of lipoprotein particles...
  22. ncbi Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study
    Philippa J Talmud
    Centre of Cardiovascular Genetics, Department of Medicine, University College London, London WC1E 6JF
    BMJ 340:b4838. 2010
    ....
  23. ncbi Lipoprotein association studies: taking stock and moving forward
    Philippa J Talmud
    Department of Medicine, Centre for Cardiovascular Genetics, University College London, 5 University St, London, UK
    Curr Opin Lipidol 22:106-12. 2011
    ..Over the last year, huge progress has been made using SNP arrays to identify genes associated with lipid traits...
  24. ncbi Identification of genetic variation in the human hormone-sensitive lipase gene and 5' sequences: homology of 5' sequences with mouse promoter and identification of potential regulatory elements
    P J Talmud
    Centre for Genetics of Cardiovascular Disorders, Department of Medicine, University College London Medical School, The Rayne Institute, University Street, London, WC1E 6JJ, United Kingdom
    Biochem Biophys Res Commun 252:661-8. 1998
    ..The 5' sequence shows 57-59% homology with the mouse promoter with higher homology at potential regulatory motifs. Thus, the 1.7 kb of 5' sequences is well conserved and may play a part in the regulation of HSL gene expression...
  25. ncbi Variants of ADRA2A are associated with fasting glucose, blood pressure, body mass index and type 2 diabetes risk: meta-analysis of four prospective studies
    P J Talmud
    Centre for Cardiovascular Genetics, Department of Medicine, University College London, 5 University St, London, WC1E 6JF, UK
    Diabetologia 54:1710-9. 2011
    ..We quantified the effect of ADRA2A (encoding α-2 adrenergic receptor) variants on metabolic traits and type 2 diabetes risk, as reported in four studies...
  26. ncbi Nonfasting apolipoprotein B and triglyceride levels as a useful predictor of coronary heart disease risk in middle-aged UK men
    Philippa J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, London, UK
    Arterioscler Thromb Vasc Biol 22:1918-23. 2002
    ..We have compared the pairwise combinations of total cholesterol, triglycerides (TGs), apoB, high density lipoprotein (HDL) cholesterol, low density lipoprotein cholesterol, and apoA-I on CHD risk prediction in middle-aged men...
  27. ncbi Genetic determinants of plasma triglycerides: impact of rare and common mutations
    P J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College Medical School, 5 University Street, London WC1E 6JJ, United Kingdom
    Curr Atheroscler Rep 3:191-9. 2001
    ..In addition, environmental factors such as diet, obesity, and smoking interact with genetic determinants of TG to produce a modulating high-risk environment...
  28. ncbi Investigation into the role of the hormone sensitive lipase -60C>G promoter variant in morbid obesity
    Philippa J Talmud
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, The Rayne Institute, Royal Free and University College Medical School, London WC1E 6JF, UK
    Nutr Metab Cardiovasc Dis 15:31-5. 2005
    ..Hormone sensitive lipase (HSL) plays a central role in free fatty acid homeostasis in adipose tissue and in pancreatic beta-cells, where it contributes to the control of insulin secretion by generating long-chain fatty acids...
  29. ncbi Gene-environment interaction and its impact on coronary heart disease risk
    Philippa J Talmud
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, The Rayne Building, 5 University Street, London WC1E 6JF, UK
    Nutr Metab Cardiovasc Dis 17:148-52. 2007
    ..Considering gene-environment interaction has the potential not only for improving our understanding of the pathophysiology of the disease, but also in the development and targeting of specific therapies...
  30. ncbi Effect of microsomal triglyceride transfer protein gene variants (-493G > T, Q95H and H297Q) on plasma lipid levels in healthy middle-aged UK men
    P J Talmud
    Centre for Cardiovascular Genetics, Dept Medicine, Royal Free and University College Medical School, London, UK
    Ann Hum Genet 64:269-76. 2000
    ....
  31. ncbi Peroxisome proliferator-activated receptor alpha gene variants influence progression of coronary atherosclerosis and risk of coronary artery disease
    David M Flavell
    Centre for Cardiovascular Genetics, Department of Medicine, Royal Free and University College of London Medical School, London, UK
    Circulation 105:1440-5. 2002
    ..Peroxisome proliferator-activated receptor alpha (PPARalpha) regulates the expression of genes involved in lipid metabolism and inflammation, making it a candidate gene for atherosclerosis and ischemic heart disease (IHD)...
  32. ncbi Common variants in the TCF7L2 gene and predisposition to type 2 diabetes in UK European Whites, Indian Asians and Afro-Caribbean men and women
    Steve E Humphries
    Department of Medicine, Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, WC1E 6JF, UK
    J Mol Med (Berl) 84:1005-14. 2006
    ..17) and haplotype frequencies differed markedly in this group. These results extend previous observations to other ethnic groups, and strongly confirm that TCF7L2 genotype is a major risk factor for development of T2D...
  33. ncbi Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip
    Philippa J Talmud
    Centre for Cardiovascular Genetics, Department of Medicine, University College London, London WC1E 6JF, UK
    Am J Hum Genet 85:628-42. 2009
    ..These genes provide further insights into lipid metabolism and the likely effects of modifying the encoded targets therapeutically...
  34. ncbi Apolipoprotein AIV gene variant S347 is associated with increased risk of coronary heart disease and lower plasma apolipoprotein AIV levels
    Wai Man R Wong
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, UK
    Circ Res 92:969-75. 2003
    ..90+/-0.12 mg/dL) (P=0.035). These results demonstrate that genetic variation in and around APOA4, independent of the effects of triglyceride, is associated with risk of CHD and apoAIV levels, supporting an antiatherogenic role for apoAIV...
  35. ncbi Contribution of APOA5 gene variants to plasma triglyceride determination and to the response to both fat and glucose tolerance challenges
    Steve Martin
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University Street, WC1E 6JF, London, UK
    Biochim Biophys Acta 1637:217-25. 2003
    ..Our results strongly support the role of APOA5 in determining plasma TG levels in an age-independent manner and highlight the importance of the APOC3/A4/A5 gene cluster in both TG and metabolic homeostasis...
  36. ncbi Human paraoxonase gene cluster polymorphisms as predictors of coronary heart disease risk in the prospective Northwick Park Heart Study II
    Kirsty S Robertson
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University St, London WC1E 6JF, UK
    Biochim Biophys Acta 1639:203-12. 2003
    ..004). These effects were independent of classical risk factors. These data demonstrate the importance of stratifying by environmental factors and the use of multiple SNPs for genetic analysis...
  37. ncbi Tagging SNP haplotype analysis of the secretory PLA2-V gene, PLA2G5, shows strong association with LDL and oxLDL levels, suggesting functional distinction from sPLA2-IIA: results from the UDACS study
    Peter T E Wootton
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, 5 University Street, London WC1E 6JF, UK
    Hum Mol Genet 16:1437-44. 2007
    ..In conclusion, PLA2G5 tSNP haplotypes demonstrate an association with total and LDL cholesterol and oxLDL/LDL, not seen with PLA2G2A, thus confirming distinct functional roles for these two sPLA2s...
  38. ncbi The effect of APOA5 and APOC3 variants on lipid parameters in European Whites, Indian Asians and Afro-Caribbeans with type 2 diabetes
    Birgit Dorfmeister
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, London WC1E 6JF, UK
    Biochim Biophys Acta 1772:355-63. 2007
    ..However, comparison between EWs with T2D and healthy EWs suggest APOC3 1100C>T is associated with increased risk of diabetes probably through mechanisms other than direct effects on TG...
  39. ncbi Application of statistical and functional methodologies for the investigation of genetic determinants of coronary heart disease biomarkers: lipoprotein lipase genotype and plasma triglycerides as an exemplar
    Andrew J P Smith
    Division of Cardiovascular Genetics, Department of Medicine, University College London, 5 University Street, London WC1E 6JF, UK
    Hum Mol Genet 19:3936-47. 2010
    ..We believe that this methodology could be successfully applied to future re-sequencing data...
  40. ncbi Candidate gene genotypes, along with conventional risk factor assessment, improve estimation of coronary heart disease risk in healthy UK men
    Steve E Humphries
    Centre for Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, United Kingdom
    Clin Chem 53:8-16. 2007
    ..We therefore investigated whether inclusion of a set of common variants in candidate genes along with conventional risk factor (CRF) assessment enhanced coronary heart disease (CHD)-risk algorithms...
  41. ncbi Tagging-SNP haplotype analysis of the secretory PLA2IIa gene PLA2G2A shows strong association with serum levels of sPLA2IIa: results from the UDACS study
    Peter T E Wootton
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, 5 University Street, London WC1E 6JF, UK
    Hum Mol Genet 15:355-61. 2006
    ..The strong impact of PLA2G2A haplotypic variation on sPLA(2)IIa levels will help clarify the causality of this association...
  42. ncbi Use of allele-specific FAIRE to determine functional regulatory polymorphism using large-scale genotyping arrays
    Andrew J P Smith
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute of Cardiovascular Sciences, University College London, London, United Kingdom
    PLoS Genet 8:e1002908. 2012
    ..Using increasingly comprehensive genotyping chips and distinct tissues for examination, FAIRE-gen has the potential to aid the identification of many causal SNPs associated with disease from GWAS...
  43. ncbi Separating the mechanism-based and off-target actions of cholesteryl ester transfer protein inhibitors with CETP gene polymorphisms
    Reecha Sofat
    Centre for Clinical Pharmacology, Department of Medicine, University College London, London, United Kingdom
    Circulation 121:52-62. 2010
    ..We hypothesized that common single-nucleotide polymorphisms in the CETP gene could help distinguish mechanism-based from off-target actions of CETP inhibitors to inform on the validity of CETP as a therapeutic target...
  44. ncbi The functional interaction on in vitro gene expression of APOA5 SNPs, defining haplotype APOA52, and their paradoxical association with plasma triglyceride but not plasma apoAV levels
    Jutta Palmen
    Division of Cardiovascular Genetics, Department of Medicine, University College London, 5 University Street, London WC1E 6JF, UK
    Biochim Biophys Acta 1782:447-52. 2008
    ..We conclude that APOA5 expression, and not circulating plasma apoAV levels, is causatively associated with plasma TG levels...
  45. ncbi APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men
    Gie Ken-Dror
    Centre for Cardiovascular Genetics, BHF Laboratories, The Rayne Building, Department of Medicine, Royal Free and University College Medical School, 5 University Street, London, United Kingdom
    Mol Med 16:389-99. 2010
    ..While the common APOE polymorphism explains the majority of the locus genetic determinants of plasma lipid levels, additional SNPs in the APOC1/C2 region may contribute to CHD risk, but these effects require confirmation...
  46. ncbi Variable effects of the APOC3-482C > T variant on insulin, glucose and triglyceride concentrations in different ethnic groups
    D M Waterworth
    Centre for Cardiovascular Genetics, Department of Medicine, The Rayne Institute, University College, London, UK
    Diabetologia 44:245-8. 2001
    ..We evaluated the effect of this variant in different ethnic groups with different rates of Type II (non-insulin-dependent) diabetes mellitus and coronary heart disease...
  47. ncbi Chromosome 9p21.3 coronary heart disease locus genotype and prospective risk of CHD in healthy middle-aged men
    Philippa J Talmud
    Centre for Cardiovascular Genetics, Department of Medicine, University College London, London, UK
    Clin Chem 54:467-74. 2008
    ....
  48. ncbi Association of telomere length with type 2 diabetes, oxidative stress and UCP2 gene variation
    Klelia D Salpea
    Centre for Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University Street, London, UK
    Atherosclerosis 209:42-50. 2010
    ....
  49. ncbi Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk
    Fotios Drenos
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, 5 University St, London WC1E 6JF, UK
    Hum Mol Genet 18:2305-16. 2009
    ..Broader and deeper integrated analyses, linking genomic with transcriptomic, proteomic and metabolomic analysis, as well as clinical events could, in principle, better delineate CHD causing pathways amenable to treatment...
  50. ncbi Genetic determination of plasma lipids and insulin in the Czech population
    J A Hubacek
    Cardiovascular Genetic, Rayne Institute, Department of Medicine, Royal Free and University College London Medical School, WC1E 6JJ, London, England
    Clin Biochem 34:113-8. 2001
    ..To evaluate the association between plasma lipids and insulin and variation in the genes for apolipoproteins (APO) E (CfoI), B (insertion/deletion), C1 (HpaI), and C3 (C-482T, C3238G) in a population-based Czech Slavonic study...
  51. ncbi Genetic variation in complement factor H and risk of coronary heart disease: eight new studies and a meta-analysis of around 48,000 individuals
    Reecha Sofat
    Centre for Clinical Pharmacology, Division of Medicine, University College London, Rayne Building, 5 University Street, London WC1E 6JF, UK
    Atherosclerosis 213:184-90. 2010
    ..To investigate the association of polymorphisms in complement factor H (CFH) and coronary heart disease (CHD) using meta-analysis...
  52. ncbi Interaction between insulin (VNTR) and hepatic lipase (LIPC-514C>T) variants on the response to an oral glucose tolerance test in the EARSII group of young healthy men
    Dawn M Waterworth
    Department of Medicine, Rayne Institute, University College Medical School, London, UK
    Biochim Biophys Acta 1740:375-81. 2005
    ..Thus, despite a modest effect of the INS VNTR alone, the influence of this variant on insulin sensitivity was modified by gene:environment and gene:gene interactions, illustrating the biological complexity of insulin resistance...
  53. ncbi Contribution of apolipoprotein C-III gene variants to determination of triglyceride levels and interaction with smoking in middle-aged men
    D M Waterworth
    Division of Cardiovascular Genetics, Department of Medicine, The Rayne Institute, University College London, UK
    Arterioscler Thromb Vasc Biol 20:2663-9. 2000
    ..Analysis in this large group of healthy men has allowed the identification of a statistically robust APOC3 genotype-smoking interaction, which now warrants further molecular study...
  54. ncbi Variation in the lipoprotein lipase gene influences exercise-induced left ventricular growth
    David M Flavell
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, University College London, London, UK
    J Mol Med (Berl) 84:126-31. 2006
    ..Change in blood pressure accounted for a proportion of LV growth. These data suggest that increased myocardial FA availability may reduce exercise-induced LV growth...
  55. ncbi Association between the Ala379Val variant of the lipoprotein associated phospholipase A2 and risk of myocardial infarction in the north and south of Europe
    A M Abuzeid
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University St, London WC1E 6JJ, UK
    Atherosclerosis 168:283-8. 2003
    ....
  56. ncbi The relationship between plasma angiopoietin-like protein 4 levels, angiopoietin-like protein 4 genotype, and coronary heart disease risk
    Melissa C Smart-Halajko
    Centre for Cardiovascular Genetics, University College London, 5 University St, London WC1E 6JF, England
    Arterioscler Thromb Vasc Biol 30:2277-82. 2010
    ..To investigate the relationship between angiopoietin-like protein 4 (Angptl4) levels, coronary heart disease (CHD) biomarkers, and ANGPTL4 variants...
  57. ncbi Variation in USF1 shows haplotype effects, gene : gene and gene : environment associations with glucose and lipid parameters in the European Atherosclerosis Research Study II
    Wendy Putt
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, London, UK
    Hum Mol Genet 13:1587-97. 2004
    ..0002) on AUC TG and APOC3 -482C>T on plasma apoE levels (P=0.0012). Thus, in these healthy young men, variation in USF1 was the influencing feature of both glucose and lipid homeostasis showing case-control heterogeneity...
  58. ncbi ANGPTL4 variants E40K and T266M are associated with lower fasting triglyceride levels in Non-Hispanic White Americans from the Look AHEAD Clinical Trial
    Melissa C Smart-Halajko
    Division of Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Royal Free and UCL Medical School, London, UK
    BMC Med Genet 12:89. 2011
    ....
  59. ncbi Functional analysis of two PLA2G2A variants associated with secretory phospholipase A2-IIA levels
    Holly J Exeter
    Centre of Cardiovascular Genetics, Institute of Cardiovascular Sciences, University College London, London, United Kingdom
    PLoS ONE 7:e41139. 2012
    ....
  60. ncbi Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration
    Aspasia Angelakopoulou
    Faculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, Keppel Street, London, UK
    Eur Heart J 33:393-407. 2012
    ....
  61. ncbi The APOA4 T347S variant is associated with reduced plasma TAOS in subjects with diabetes mellitus and cardiovascular disease
    Wai Man R Wong
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, London WC1E 6JF, United Kingdom
    J Lipid Res 45:1565-71. 2004
    ..This study offers direct support for an antioxidant capacity of apoA-IV, thus providing some explanation for the antiatherogenic role of apoA-IV and the higher CVD risk in S347 homozygotes...
  62. ncbi Lipoprotein-associated phospholipase A2 A379V variant is associated with body composition changes in response to exercise training
    Peter T E Wootton
    Centre for Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College London Medical School, 5 University Street, London WC1E 6JF, UK
    Nutr Metab Cardiovasc Dis 17:24-31. 2007
    ..51+/-1.17%) in percentage lean mass, compared to AV (1.64+/-0.38%) and AA (1.10+/-0.24%) recruits (p=0.02). The association of this genotype with changes in body composition after training suggests a novel role for Lp-PLA2...
  63. ncbi Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding
    B Dorfmeister
    Department of Medicine, Division of Cardiovascular Genetics, UCL, London, UK
    Arterioscler Thromb Vasc Biol 28:1866-71. 2008
    ..The purpose of this study was to identify rare APOA5 variants in 130 severe hypertriglyceridemic patients by sequencing, and to test their functionality, since no patient recall was possible...
  64. ncbi Family history is a coronary heart disease risk factor in the Second Northwick Park Heart Study
    E Hawe
    Centre for Cardiovascular Genetics, Dept Medicine, Royal Free and University College London Medical School, Rayne Institute, UK
    Ann Hum Genet 67:97-106. 2003
    ..001. These data demonstrate the complex interaction between genetic and environmental factors in determining CHD risk, and suggest that the causes of the familial clustering of CHD remain largely unexplained...
  65. ncbi Circulating methylarginine levels and the decline in renal function in patients with chronic kidney disease are modulated by DDAH1 polymorphisms
    Ben Caplin
    Centre for Nephrology, Division of Medicine, University College London Medical School, London, UK
    Kidney Int 77:459-67. 2010
    ..Our findings show that DDAH1 modulates plasma asymmetric dimethylarginine and contributes to the decline in renal function. However, it appears that increases in circulating methylarginine did not mediate progressive kidney injury...
  66. ncbi Genetic testing for cardiovascular disease susceptibility: a useful clinical management tool or possible misinformation?
    Steve E Humphries
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College London Medical School, London, UK
    Arterioscler Thromb Vasc Biol 24:628-36. 2004
    ..Here we review some of the particular issues and concerns raised by CVD-risk genetic testing, and suggest areas of further research to address these issues...
  67. ncbi Common variants of apolipoprotein A-IV differ in their ability to inhibit low density lipoprotein oxidation
    Wai Man R Wong
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, London, UK
    Atherosclerosis 192:266-74. 2007
    ..The reduced inhibition of LDL oxidation by apoA-IV-S347 compared to wild type apoA-IV may account for the previous association of the APOA4 S347 variant with increased CHD risk and oxidative stress...
  68. ncbi Variants in the APOC3 promoter insulin responsive element modulate insulin secretion and lipids in middle-aged men
    D M Waterworth
    Division of Cardiovascular Genetics, Department of Medicine, The Rayne Institute, University College London, London, UK
    Biochim Biophys Acta 1637:200-6. 2003
    ..The finding of an elevated 30-min NEFA may be an important mechanistic link between triglyceride-rich lipoprotein (TRL) metabolism and glucose homeostasis...
  69. ncbi Blood pressure loci identified with a gene-centric array
    Toby Johnson
    Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK
    Am J Hum Genet 89:688-700. 2011
    ....
  70. ncbi Genetic variation in alcohol dehydrogenase 1C and the beneficial effect of alcohol intake on coronary heart disease risk in the Second Northwick Park Heart Study
    Jenan Younis
    Division of Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College Medical School, 5 University Street, London WC1E 6JF, UK
    Atherosclerosis 180:225-32. 2005
    ..These findings confirm that the cardiovascular benefit of modest alcohol consumption. ADH1C genotype modifies the relationship between alcohol consumption and CHD risk but at lower levels than previously reported...
  71. ncbi Enhanced bridging function and augmented monocyte adhesion by lipoprotein lipase N9: insights into increased risk of coronary artery disease in N9 carriers
    Rachel M Fisher
    Department of Medicine, Royal Free and University College Medical School, Rayne Institute, 5 University Street, London WC1E 6JJ, UK
    Atherosclerosis 166:243-51. 2003
    ..Thus once on the cell surface, LPL-N9 enhances bridging, as assessed both by LDL binding and internalisation, and monocyte adhesion. This augmented LPL-N9 bridging provides a mechanism for the reported increased CAD risk in N9 carriers...
  72. ncbi Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy
    F Mailly
    Department of Medicine, University College London Medical School, UK
    Hum Mutat 10:465-73. 1997
    ..Failure to identify the mutation in 11 alleles might reflect the inadequacy of the method or the possibility that mutations lie within regions of the gene not screened in the study because of lack of availability of sequence...
  73. ncbi Cardiovascular disease risk prediction using genetic information (gene scores): is it really informative?
    Steve E Humphries
    Division of Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Royal Free and UCL Medical School, London, UK
    Curr Opin Lipidol 19:128-32. 2008
    ..The efficacy of selected 'candidate' gene loci in risk algorithms, to improve the predictive accuracy for coronary heart disease, remains to be demonstrated...
  74. ncbi C-reactive protein and coronary heart disease: predictive test or therapeutic target?
    Aroon D Hingorani
    Division of Population Sciences, Department of Epidemiology and Public Health, University College London, London, UK
    Clin Chem 55:239-55. 2009
    ..The research has encompassed observational and genetic epidemiology, basic science studies with cells and tissues, experiments with animal models and humans, and randomized trials (although not of specific CRP-lowering therapies as yet)...
  75. ncbi The association of telomere length with paternal history of premature myocardial infarction in the European Atherosclerosis Research Study II
    Klelia D Salpea
    Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, WC1E 6JF, UK
    J Mol Med (Berl) 86:815-24. 2008
    ..The association with paternal history of MI is strongly seen only in the Baltic compared to the rest of Europe, but this is not explained by shorter telomere length in this region...
  76. ncbi The representation of heart development in the gene ontology
    Varsha K Khodiyar
    Cardiovascular GO Annotation Initiative, Centre for Cardiovascular Genetics, Rayne Institute, University College London, London, UK
    Dev Biol 354:9-17. 2011
    ..Additionally, we invite the heart development community to contribute to the expansion of this important dataset for the benefit of future research in this area...
  77. ncbi Analysis of gene-environment interaction in coronary artery disease: lipoprotein lipase and smoking as examples
    Philippa J Talmud
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, UK
    Ital Heart J 3:6-9. 2002
    ..The proposed mechanism for this LPL:smoking interaction on CAD risk is the subject of this review...
  78. ncbi Cardiovascular GO annotation initiative year 1 report: why cardiovascular GO?
    Ruth C Lovering
    Centre for Cardiovascular Genetics, Department of Medicine, University College London, Rayne Institute, London, UK
    Proteomics 8:1950-3. 2008
    ..This new initiative is funded by the British Heart Foundation and fully supported by the GO Consortium...
  79. ncbi Improvements to cardiovascular gene ontology
    Ruth C Lovering
    Department of Medicine, University College London, Rayne Institute, London, UK
    Atherosclerosis 205:9-14. 2009
    ..In this article we review the current uses of Gene Ontology annotation to highlight why Gene Ontology should be of interest to all those involved in cardiovascular research...
  80. ncbi SERPINA1 11478G→A variant, serum α1-antitrypsin, exacerbation frequency and FEV1 decline in COPD
    Jennifer K Quint
    Academic Unit of Respiratory Medicine, University College London, London, UK
    Thorax 66:418-24. 2011
    ..It was hypothesised that patients with chronic obstructive pulmonary disease (COPD) and this mutation have accelerated lung function decline...
  81. ncbi Lipoprotein lipase gene variation is associated with a paternal history of premature coronary artery disease and fasting and postprandial plasma triglycerides: the European Atherosclerosis Research Study (EARS)
    S E Humphries
    Centre for Genetics of Cardiovascular Disorders, Department of Medicine, UCL Medical School, The Rayne Institute, London, England, UK
    Arterioscler Thromb Vasc Biol 18:526-34. 1998
    ....
  82. ncbi APOE polymorphism, socioeconomic status and cognitive function in mid-life--the Whitehall II longitudinal study
    J H Zhao
    Dept of Epidemiology and Public Health, International Centre for Health and Society, 1 19 Torrington Place, London WC1E 6BT, UK
    Soc Psychiatry Psychiatr Epidemiol 40:557-63. 2005
    ....
  83. ncbi Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective study
    S E Humphries
    Centre for Cardiovascular Genetics, Department of Medicine, Royal Free and University College London Medical School, Rayne Institute, WC1E 6JJ, London, UK
    Lancet 358:115-9. 2001
    ..We investigated whether the effect of smoking on coronary heart disease risk is affected by APOE genotype...
  84. ncbi Loci for CETP, LPL, LIPC, and APOC3 affect plasma lipoprotein size and sub-population distribution in Hispanic and non-Hispanic white subjects: the Columbia University BioMarkers Study
    S E Humphries
    Division of Cardiovascular Genetics, Dept of Medicine, UCL Medical School, Rayne Institute, University Street, London WC1E 6JJ, UK
    Nutr Metab Cardiovasc Dis 12:163-72. 2002
    ..The effect of genetic variation on plasma lipoproteins and their subfraction distribution was examined...
  85. ncbi The 5A/6A polymorphism in the promoter of the stromelysin-1 (MMP-3) gene predicts progression of angiographically determined coronary artery disease in men in the LOCAT gemfibrozil study. Lopid Coronary Angiography Trial
    S E Humphries
    Department of Medicine, Centre for Cardiovascular Genetics, UCLMS, The Rayne Institute, London, UK
    Atherosclerosis 139:49-56. 1998
    ....
  86. ncbi APOE, CETP and LPL genes show strong association with lipid levels in Greek children
    M C Smart
    Division of Cardiovascular Genetics, British Heart Foundation Laboratories, Department of Medicine, Royal Free and UCL Medical School, London, UK
    Nutr Metab Cardiovasc Dis 20:26-33. 2010
    ....
  87. ncbi Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis
    R M Fisher
    Department of Medicine, University College London Medical School, Rayne Institute, UK
    Atherosclerosis 135:145-59. 1997
    ..Greater knowledge of the underlying mechanisms of these variations within the LPL gene may be of considerable importance in understanding genetic predisposition to atherosclerosis and heart disease...
  88. ncbi Substitution of asparagine for aspartic acid at residue 9 (D9N) of lipoprotein lipase markedly augments risk of ischaemic heart disease in male smokers
    P J Talmud
    Department of Medicine, Division of Cardiovascular Genetics, Royal Free and University College Medical School, Rayne Institute, 5 University Street, London, UK
    Atherosclerosis 149:75-81. 2000
    ..Carriers of N9 appear to be especially vulnerable to the adverse effects of cigarette smoking on IHD risk, but this susceptibility is unrelated to the influence of this variant on plasma TG levels...
  89. ncbi Characterization of the lipid-binding properties and lipoprotein lipase inhibition of a novel apolipoprotein C-III variant Ala23Thr
    H Liu
    Cardiovascular Genetics Division, Department of Medicine, Royal Free and University College London Medical School, London WC1E 6JJ, UK
    J Lipid Res 41:1760-71. 2000
    ....
  90. ncbi Lp-PLA2 activity and PLA2G7 A379V genotype in patients with diabetes mellitus
    P T E Wootton
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, Rayne Building, 5 University Street, London WC1E 6JF, UK
    Atherosclerosis 189:149-56. 2006
    ..The association of Lp-PLA2 activity with oxLDL/LDL suggests that Lp-PLA2 may be a modulating factor in the process of atherosclerosis...
  91. ncbi Variation in the human ApoB signal peptide modulates ApoB17 translocation
    F Benhizia
    Division of Cardiovascular Genetics, Department of Medicine, Royal Free and University College Medical School, London, WC1E 6JJ, United Kingdom
    Biochem Biophys Res Commun 283:149-57. 2001
    ..This implies a direct role of the SP variants in the regulation of apoB intracellular metabolism...
  92. ncbi Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia
    P J Talmud
    Charing Cross Sunley Research Centre, London, United Kingdom
    J Clin Invest 82:1803-6. 1988
    ....
  93. ncbi Polymorphisms in CYP-7A1, not APOE, influence the change in plasma lipids in response to population dietary change in an 8 year follow-up; results from the Czech MONICA study
    Jaroslav A Hubacek
    Institute for Clinical and Experimental Medicine, Laboratory for Atherosclerosis Research, Prague, Czech Republic
    Clin Biochem 36:263-7. 2003
    ..To evaluate the influence of variation in the genes for apolipoprotein E (APOE; epsilon2, epsilon3, epsilon4) and cholesterol-7alpha hydroxylase (CYP-7A1; -204A-->C) on plasma lipid level changes...
  94. ncbi Heritability of multivariate factors of the metabolic syndrome in nondiabetic Japanese americans
    Melissa A Austin
    Department of Epidemiology and Institute for Public Health Genetics, School of Public Health and Community Medicine, University of Washington, Seattle, 98195 7236, USA
    Diabetes 53:1166-9. 2004
    ..25, P = 0.026). This analysis shows that independent, multivariate factors of the metabolic syndrome are heritable, demonstrating genetic influences on the underlying pathophysiological mechanisms of the syndrome...
  95. ncbi Response to micronized fenofibrate treatment is associated with the peroxisome-proliferator-activated receptors alpha G/C intron7 polymorphism in subjects with type 2 diabetes
    Christelle Foucher
    Laboratoires Fournier S A Centre de Recherches, Department of Clinical Research and Medical Affairs, Daix, France
    Pharmacogenetics 14:823-9. 2004
    ....
  96. ncbi Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses
    Xiao-He Chen
    Human Genetics Division, School of Medicine, University of Southampton, Southampton General Hospital, England
    Hum Hered 57:142-55. 2004
    ....
  97. ncbi In search of genetic precision
    Steve E Humphries
    Lancet 361:1908-9; author reply 1909-10. 2003
  98. ncbi Association of apolipoprotein A5 variants with LDL particle size and triglyceride in Japanese Americans
    Melissa A Austin
    Department of Epidemiology and Institute for Public Health Genetics, School of Public Health and Community Medicine, University of Washington, 1959 N E Pacific Ave, Box 357236, Seattle, WA 98195 7236, USA
    Biochim Biophys Acta 1688:1-9. 2004
    ..Therefore, the haplotype containing the -1131C and -3G variants, and possibly specifically the -3A>G SNP in APOA5, may be a major genetic determinant of LDL particle size and TG levels among ethnic Asians...
  99. ncbi Haplotype analyses of the APOA5 gene in patients with familial combined hyperlipidemia
    Gerly M van der Vleuten
    Department of Medicine, Division of General Internal Medicine, 463, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Biochim Biophys Acta 1772:81-8. 2007
    ..Furthermore, the effects of variants in the APOA5 gene on carotid intima-media thickness (IMT) and cardiovascular disease (CVD) were examined...
  100. ncbi Apolipoprotein A-V, triglycerides and risk of coronary artery disease: the prospective Epic-Norfolk Population Study
    Stefan F C Vaessen
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
    J Lipid Res 47:2064-70. 2006
    ..The positive correlation of apoA-V levels with TG levels, negative correlation with LPL levels, and lack of association with CAD risk highlight the need for further human studies to clarify the role of apoA-V...
  101. ncbi Dietary long-chain n-3 PUFAs increase LPL gene expression in adipose tissue of subjects with an atherogenic lipoprotein phenotype
    Syrah Khan
    School of Biomedical and Life Sciences, University of Surrey, Guildford, United Kingdom
    J Lipid Res 43:979-85. 2002
    ..We conclude that the favorable influence of dietary n-3 PUFA on the ALP may be mediated, in part, through an increase in the plasma activity and gene expression of lipoprotein lipase in human adipose tissue...