Analysis of the CTLA4 gene in Swedish coeliac disease patients.

Abstract:

BACKGROUND:A genetic susceptibility to coeliac disease is well established, involving HLA and non-HLA components. CTLA4 is an important regulator of T-cell function and some studies have suggested that sequence variation in the gene might be a determinant of disease susceptibility, although the evidence is conflicting. METHODS:Sixty-two children with biopsy-proven coeliac disease attending a single centre in Sweden were studied. All were genotyped for presence of the HLA-DQA1*0501, B 1*0201 alleles. Those who carried the HLA-DQ heterodimer (58/62) were genotyped for the +49 (A/G) exon I polymorphism. The transmission disequilibrium test (TDT) was used to test for association between coeliac disease and the A allele. The entire CTLA4 gene was screened for other sequence variants using a combination of conformation-sensitive gel electrophoresis and direct sequencing. RESULTS:A significant association between the exon I polymorphism and coeliac disease was observed (P = 0.02). No other sequence variants in CTLA4 were detected. CONCLUSIONS:This study provides further evidence that variation in CTLA4 is a determinant of coeliac disease susceptibility. If not mediated through the +49 (A/G) dimorphism directly, then the effect is likely to be mediated through linkage disequilibrium.

journal_name

Scand J Gastroenterol

authors

Popat S,Hearle N,Wixey J,Hogberg L,Bevan S,Lim W,Stenhammar L,Houlston RS

doi

10.1080/003655202753387310

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

28-31

issue

1

eissn

0036-5521

issn

1502-7708

journal_volume

37

pub_type

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