LETTER

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

P L Bittencourt¹, S A Palacios², E L R Cançado², F J Carrilho², G Porta³, J Kalil⁴ and A C Goldberg⁴

¹ Portuguese Hospital of Salvador, Bahia and Department of Gastroenterology, University of São Paulo School of Medicine, São Paulo, Brazil
² Department of Gastroenterology, University of São Paulo School of Medicine, São Paulo, Brazil
³ Children's Institute-Liver Unit, University of São Paulo School of Medicine, São Paulo, Brazil
⁴ Laboratory of Immunology-Heart Institute, University of São Paulo School of Medicine, São Paulo, Brazil

Correspondence to:
Correspondence to:
P L Bittencourt, Rua Tamoios 314, apto 302A, Rio Vermelho, Salvador-BA, Brasil;
plbbr@uol.com.br

Keywords: primary sclerosing cholangitis; HLA-DRB1*13; tumour necrosis factor ; genetic polymorphism

The first 150 words of the full text of this article appear below.

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 colleagues⁵ have previously reported an increased frequency of TNFA*2 in another cohort of British patients with PSC. This association . . . [Full text of this article]

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