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  • Susceptibility to primary sclerosing cholangitis in Brazil is associated with HLA-DRB1*13 but not with tumour necrosis factor α −308 promoter polymorphism

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Susceptibility to primary sclerosing cholangitis in Brazil is associated with HLA-DRB1*13 but not with tumour necrosis factor α −308 promoter polymorphism
  1. P L Bittencourt1,
  2. S A Palacios2,
  3. E L R Cançado2,
  4. F J Carrilho2,
  5. G Porta3,
  6. J Kalil4,
  7. A C Goldberg4
  1. 1Portuguese Hospital of Salvador, Bahia and Department of Gastroenterology, University of São Paulo School of Medicine, São Paulo, Brazil
  2. 2Department of Gastroenterology, University of São Paulo School of Medicine, São Paulo, Brazil
  3. 3Children's Institute-Liver Unit, University of São Paulo School of Medicine, São Paulo, Brazil
  4. 4Laboratory of Immunology-Heart Institute, University of São Paulo School of Medicine, São Paulo, Brazil
  1. Correspondence to:
    P L Bittencourt, Rua Tamoios 314, apto 302A, Rio Vermelho, Salvador-BA, Brasil;
    plbbr{at}uol.com.br

https://doi.org/10.1136/gut.51.4.609

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    Susceptibility to primary sclerosing cholangitis (PSC) is linked to HLA-A1-B8-DRB1*0301-DQB1*0201 and HLA-DRB1*1301-DQB1* 0603 haplotypes in different populations of Northern European origin and also to HLA-DRB1*1501-DQB1*0602 in the UK.1–,4

    Mitchell et al have reported an association between tumour necrosis factor alpha promoter gene (TNFA) polymorphism at position −308 and PSC (Gut 2001;49:288–94). In this respect, increased distribution of the TNF*2 allele, in strong linkage disequilibrium with the HLA-A1/B8/DRB1*0301 haplotype, was observed in PSC patients from Norway but not from the UK. However, analysis of the combined data confirmed a significant association of TNFA*2 with PSC. This overrepresentation of TNFA*2 was seen only in subjects with HLA-A1-B8-DRB1*0301, indicating that the observed association of PSC with TNFA*2 might in fact be secondary to linkage disequilibrium within this haplotype.

    Bernal and …

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