A J P Smith

Summary

Affiliation: University College London
Country: UK

Publications

  1. doi request reprint Effects of genetic variation on chromatin structure and the transcriptional machinery: analysis of the IL6 gene locus
    A J P Smith
    Centre for Cardiovascular Genetics, UCL Institute of Cardiovascular Science, University College London, London, UK
    Genes Immun 13:583-6. 2012
  2. pmc 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
  3. ncbi request reprint INSIG2 gene polymorphism is not associated with obesity in Caucasian, Afro-Caribbean and Indian subjects
    A J P Smith
    Department of Medicine, Centre for Cardiovascular Genetics, University College London, London, UK
    Int J Obes (Lond) 31:1753-5. 2007
  4. ncbi request reprint A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia
    Andrew J P Smith
    Department of Medicine, Centre for Cardiovascular Genetics, University College London, London, UK
    Eur J Hum Genet 15:1186-9. 2007
  5. doi request reprint Association of serum interleukin-6 concentration with a functional IL6 -6331T>C polymorphism
    Andrew J P Smith
    Centre for Cardiovascular Genetics, Department of Medicine, University College London, London, UK
    Clin Chem 54:841-50. 2008
  6. doi request reprint Cytokine and cytokine receptor gene polymorphisms and their functionality
    Andrew J P Smith
    Centre for Cardiovascular Genetics, Department of Medicine, University College London, United Kingdom
    Cytokine Growth Factor Rev 20:43-59. 2009
  7. doi request reprint Characterization of DNA-binding proteins using multiplexed competitor EMSA
    Andrew J P Smith
    Center for Cardiovascular Genetics, Department of Medicine, University College London, 5 University Street, London WC1E 6JF, UK
    J Mol Biol 385:714-7. 2009
  8. pmc Functional analysis of TCF7L2 genetic variants associated with type 2 diabetes
    D X Pang
    BHF Centre for Cardiovascular Genetics, Department of Medicine, University College London, London, United Kingdom
    Nutr Metab Cardiovasc Dis 23:550-6. 2013
  9. doi request reprint 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
  10. doi request reprint Identification of a novel regulatory region in the interleukin-6 gene promoter
    J M Samuel
    Department of Immunology and Molecular Pathology, University College London, 46, Cleveland Street, London W1T4 JF, UK
    Cytokine 42:256-64. 2008

Detail Information

Publications11

  1. doi request reprint Effects of genetic variation on chromatin structure and the transcriptional machinery: analysis of the IL6 gene locus
    A J P Smith
    Centre for Cardiovascular Genetics, UCL Institute of Cardiovascular Science, University College London, London, UK
    Genes Immun 13:583-6. 2012
    ..These studies highlight the importance of examining chromatin under different environmental conditions when studying the functionality of regulatory polymorphisms...
  2. pmc 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...
  3. ncbi request reprint INSIG2 gene polymorphism is not associated with obesity in Caucasian, Afro-Caribbean and Indian subjects
    A J P Smith
    Department of Medicine, Centre for Cardiovascular Genetics, University College London, London, UK
    Int J Obes (Lond) 31:1753-5. 2007
    ..This suggests that, at the least, the true size of the effect on obesity of this SNP is likely to be considerably less than reported previously...
  4. ncbi request reprint A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia
    Andrew J P Smith
    Department of Medicine, Centre for Cardiovascular Genetics, University College London, London, UK
    Eur J Hum Genet 15:1186-9. 2007
    ..Analysis using electrophoretic mobility shift assay demonstrated the loss of Sp1 binding to the variant sequence in vitro, explaining the reduction of transcription...
  5. doi request reprint Association of serum interleukin-6 concentration with a functional IL6 -6331T>C polymorphism
    Andrew J P Smith
    Centre for Cardiovascular Genetics, Department of Medicine, University College London, London, UK
    Clin Chem 54:841-50. 2008
    ..Interleukin-6 (IL-6) concentrations vary substantially among individuals. This study aimed to identify novel genetic markers to explain these differences...
  6. doi request reprint Cytokine and cytokine receptor gene polymorphisms and their functionality
    Andrew J P Smith
    Centre for Cardiovascular Genetics, Department of Medicine, University College London, United Kingdom
    Cytokine Growth Factor Rev 20:43-59. 2009
    ....
  7. doi request reprint Characterization of DNA-binding proteins using multiplexed competitor EMSA
    Andrew J P Smith
    Center for Cardiovascular Genetics, Department of Medicine, University College London, 5 University Street, London WC1E 6JF, UK
    J Mol Biol 385:714-7. 2009
    ..We show utility for the method to identify a previously unreported hepatocyte nuclear factor-3 site created in intron 8 of the lipoprotein lipase gene by a common single-nucleotide polymorphism (rs327)...
  8. pmc Functional analysis of TCF7L2 genetic variants associated with type 2 diabetes
    D X Pang
    BHF Centre for Cardiovascular Genetics, Department of Medicine, University College London, London, United Kingdom
    Nutr Metab Cardiovasc Dis 23:550-6. 2013
    ..An islet-specific functional polymorphism has been identified, although this does not explain the association between genotype and gene expression in other cell types. This study sought to identify these other functional TCF7L2 variants...
  9. doi request reprint 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...
  10. doi request reprint Identification of a novel regulatory region in the interleukin-6 gene promoter
    J M Samuel
    Department of Immunology and Molecular Pathology, University College London, 46, Cleveland Street, London W1T4 JF, UK
    Cytokine 42:256-64. 2008
    ....
  11. ncbi request reprint Accuracy of haplotype association studies is enhanced by increasing number of polymorphic loci examined: comment on the article by Meulenbelt et al
    Andrew J P Smith
    Arthritis Rheum 52:675; author reply 675-6. 2005