Genomes and Genes
Timothy J Vyse
Affiliation: King's College London
- Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosusDeborah S Cunninghame Graham
Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, School of Medicine, King s College London, London, United Kingdom
PLoS Genet 7:e1002341. 2011..These results increase the number of established susceptibility genes for lupus to ~30 and validate the importance of using large datasets to confirm associations of loci which moderately increase the risk for disease...
- Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populationsLora Boteva
Division of Genetics and Molecular Medicine, Guy s Hospital, King s College London, UK
Am J Hum Genet 90:445-56. 2012..Thus, although complete homozygous deficiency of complement C4 is one of the strongest genetic risk factors for SLE, partial C4 deficiency states do not independently predispose to the disease...
- Determination of the loss of function complement C4 exon 29 CT insertion using a novel paralog-specific assay in healthy UK and Spanish populationsLora Boteva
Division of Molecular Medicine and Genetics, Guy s Hospital, King s College London, London, United Kingdom
PLoS ONE 6:e22128. 2011..Therefore it is important to note that, as with C4 gene CNV, disease-association due to this variant will be missed by current SNP-based genome-wide association strategies...
- Genetic dissection of spontaneous autoimmunity driven by 129-derived chromosome 1 Loci when expressed on C57BL/6 miceFrancesco Carlucci
Rheumatology Section, Faculty of Medicine, Imperial College, London, United Kingdom
J Immunol 178:2352-60. 2007..These findings have important implication for the interpretation of the autoimmune phenotype associated with gene-targeted models...
- Defining the role of the MHC in autoimmunity: a review and pooled analysisMichelle M A Fernando
Section of Molecular Genetics and Rheumatology, Faculty of Medicine, Imperial College London, London, United Kingdom
PLoS Genet 4:e1000024. 2008..Furthermore, we find a number of interesting commonalities and differences across diseases that implicate both general and disease-specific pathogenetic mechanisms in autoimmunity...
- Assessment of complement C4 gene copy number using the paralog ratio testMichelle M A Fernando
Section of Rheumatology, Faculty of Medicine, Imperial College London, London, United Kingdom
Hum Mutat 31:866-74. 2010..In addition, SNP-C4 CNV analyses show only moderate levels of correlation and therefore do not support the use of SNP genotypes as proxies for complement C4 GCN...
- Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in EuropeansDavid L Morris
Divisions of Genetics and Molecular Medicine and Immunology, Infection and Inflammatory Disease, King s College London, London, UK
Am J Hum Genet 91:778-93. 2012....
- The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytesBenjamin Rhodes
Genetics and Molecular Medicine and Immunology, Infection and Inflammatory Disease, King s College London, London, UK
Ann Rheum Dis 71:2028-34. 2012..The authors aimed to demonstrate R77H function in ex-vivo human cells...
- Large scale replication study of the association between HLA class II/BTNL2 variants and osteoarthritis of the knee in European-descent populationsAna M Valdes
Department of Twin Research and Genetic Epidemiology, King s College London, London, United Kingdom
PLoS ONE 6:e23371. 2011..07). The rs10947262 and rs7775228 variants are not associated with risk of knee OA in European descent populations and they do not appear tag the same HLA class II haplotype as they do in Japanese individuals...
- Identification of two independent risk factors for lupus within the MHC in United Kingdom familiesMichelle M A Fernando
Section of Molecular Genetics and Rheumatology, Imperial College London, London, United Kingdom
PLoS Genet 3:e192. 2007..Our class III signal importantly excludes independent association at the TNF promoter polymorphism, TNF-308G/A, in our SLE cohort and provides a potentially novel locus for future genetic and functional studies...
- A genetic association study of serum acute-phase C-reactive protein levels in rheumatoid arthritis: implications for clinical interpretationBenjamin Rhodes
Rheumatology Section, Division of Medicine, Imperial College London, London, United Kingdom
PLoS Med 7:e1000341. 2010..Little is known about the influence of genetics on acute-phase CRP, particularly in patients with chronic inflammation...
- The genetics of lupus: a functional perspectiveSandra G Guerra
Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King s College London, Great Maze Pond, London, SE1 9RT, UK
Arthritis Res Ther 14:211. 2012....
- Spontaneous autoimmunity in 129 and C57BL/6 mice-implications for autoimmunity described in gene-targeted miceAnne E Bygrave
Rheumatology Section, Eric Bywaters Centre, Imperial College, London, United Kingdom
PLoS Biol 2:E243. 2004..These background gene influences may account for some, or even all, of the autoimmune traits described in some gene-targeted models of SLE...