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Transforming growth factor β1 gene (HSTGFB1) nucleotide T869C (codon 10) polymorphism is not associated with prevalence or severity of rheumatoid arthritis in a Caucasian population
  1. V Pokorny1,
  2. J Chau1,
  3. L Wu1,2,
  4. S Yeoman3,
  5. P Black2,
  6. F McQueen1,3,
  7. L McLean1,3
  1. 1Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand
  2. 2Department of Medicine, University of Auckland, Auckland, New Zealand
  3. 3Department of Rheumatology, Auckland Hospital, Auckland, New Zealand
  1. Correspondence to:
    Dr L McLean, Experimental Medicine, AstraZeneca R&D, Loughborough, Leics LE11 5RH, UK;
    lachy.mclean{at}astrazeneca.com

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In a recent report in the Annals Sugiura and colleagues found an association between rheumatoid arthritis (RA) and a single nucleotide polymorphism (SNP) of HSTGFB1 at nucleotide (nt) +869 (T869C; nt position relative to GenBank accession X05839), a coding SNP producing a Leu→ Pro substitution in codon 10.1 The CC genotype was found in 29/155 (19%) central Japanese patients with RA compared with 33/110 (30%) controls and this was significant when the CT and TT genotypes were pooled. Codon 10 is in the signalling peptide region and the Pro (869C) allele has been associated with higher transforming growth factor β1 (TGFβ1) production. TGFβ1 is present in the synovial tissue of patients with RA, and in addition to its profibrotic activities has regulatory effects on cells important in the pathogenesis of RA, including lymphocytes, dendritic cells, macrophages, chondrocytes, and osteoblasts.2–5 Administration of TGFβ suppresses collagen induced arthritis, whereas antibodies to TGFβ exaggerate the process.6 Crilly and colleagues reported an increase in the high producing codon 10 Leu (nt869T) in patients with systemic sclerosis.7 This polymorphism has also been associated with osteoporosis and with osteophytosis.8,9

METHODS AND RESULTS

To explore whether this polymorphism is associated with the prevalence and/or severity of RA in white …

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