Association analysis of TGFBR3 gene with Behçet's disease and idiopathic intermediate uveitis in a Caucasian population

Robert J Barry, Jawaher A Alsalem, Juliet Faassen, Philip I Murray, Stephen Curnow, Graham R Wallace

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)696-9
Number of pages4
JournalBritish Journal of Ophthalmology
Issue number5
Early online date12 Feb 2015
Publication statusPublished - May 2015


  • Behcet Syndrome
  • European Continental Ancestry Group
  • Female
  • Gene Frequency
  • Genotype
  • Genotyping Techniques
  • Humans
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide
  • Proteoglycans
  • Receptors, Transforming Growth Factor beta
  • Uveitis, Intermediate


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