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Association analysis of TGFBR3 gene with Behçet's disease and idiopathic intermediate uveitis in a Caucasian population
  1. Robert J Barry1,2,
  2. Jawaher A Alsalem1,2,
  3. Juliet Faassen1,
  4. Philip I Murray1,2,3,
  5. S John Curnow1,2,
  6. Graham R Wallace1,2
  1. 1Centre for Translational Inflammation Research, College of Medical and Dental Sciences, University of Birmingham, Queen Elizabeth Hospital, Birmingham, UK
  2. 2Academic Unit of Ophthalmology, University of Birmingham, Birmingham and Midland Eye Centre, City Hospital, Birmingham, UK
  3. 3Behçet's Centre of Excellence, City Hospital, Sandwell & West Birmingham Hospitals NHS Trust, Birmingham, UK
  1. Correspondence to Dr Graham R Wallace, Centre for Translational Inflammation Research, College of Medical and Dental Sciences, University of Birmingham Research Laboratories, Queen Elizabeth Hospital Birmingham, Mindelsohn Way, Edgbaston, Birmingham B15 2WB, UK; g.r.wallace{at}


Background Transforming growth factor β (TGFβ) is an important immunoregulatory cytokine in regulatory T cell (Treg) and Th17-mediated pathology, including uveitis due to Behçet's disease (BD). Of the three isoforms, TGFβ2 is found at highest levels in the aqueous humour of uninflamed eyes. TGFβ signals through a cell-surface receptor comprising three subunits (TGFBR1, 2 and 3). TGFBR3 is considered necessary for TGFβ2 signal transduction, but not for other isoforms. A polymorphism in TGFBR3 (rs1805110) has previously been identified in Han Chinese patients with BD. We investigated the frequency of this polymorphism in a Caucasian population with BD and idiopathic intermediate uveitis (IIU).

Methods The single-nucleotide polymorphism (SNP) rs1805110 in TGFBR3 was genotyped in 75 BD patients, 92 IIU disease controls and 85 disease-free controls. The association with both diseases was analysed using Fisher's exact test.

Results No significant difference in rs1805110 allele or genotype frequency was observed. A low frequency of the T allele was observed (5.88% control, 9.33% BD, 10.33% IIU) with the TT genotype absent in patients with BD and IIU (1.18% control, 0% BD and 0% IIU). Stratification analysis according to clinical features of BD did not associate with the tested SNP.

Conclusions RS1805110 is not associated with BD or IIU in Caucasian patients. The T allele frequency is consistent with that presented for Caucasian populations in the HapMap database (p>0.05). Our results differ from the previous analysis in Han Chinese patients (p<0.0001), however, the possibility of having a much smaller effect due to the low minority frequency cannot be excluded.

  • Genetics
  • Immunology
  • Inflammation

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