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- Title
Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease.
- Authors
POPAT, S.; HEARLE, N.; HOGBERG, L.; BRAEGGER, C. P.; O'DONOGHUE, D.; FALTH-MAGNUSSON, K.; HOLMES, G. K. T.; HOWDLE, P. D.; JENKINS, H.; JOHNSTON, S.; KENNEDY, N. P.; KUMAR, P. J.; LOGAN, R. F. A.; MARSH, M. N.; MULDER, C. J.; TORINSSON NALUAI, A.; SJOBERG, K.; STENHAMMAR, L.; WALTERS, J. R. F.; JEWELL, D. P.
- Abstract
Susceptibility to coeliac disease involves HLA and non-HLA-linked genes. The CTLA4/CD28 gene region encodes immune regulatory T-cell surface molecules and is a strong candidate as a susceptibility locus. We evaluated CTLA4/CD28 in coeliac disease by genetic linkage and association and combined our findings with published studies through a meta-analysis. 116 multiplex families were genotyped across CTLA4/CD28 using eight markers. The contribution of CTLA4/CD28 to coeliac disease was assessed by non-parametric linkage and association analyses. Seven studies were identified that had evaluated the relationship between CTLA4/CD28 and coeliac disease and a pooled analysis of data undertaken. In our study there was evidence for a relationship between variation in the CTLA4/CD28 region and coeliac disease by linkage and association analyses. However, the findings did not attain formal statistical significance (p = 0·004 and 0·039, respectively). Pooling findings with published results showed significant evidence for linkage (504 families) and association (940 families): p values, 0·0001 and 0·0014 at D2S2214, respectively, and 0·0008 and 0·0006 at D2S116, respectively. These findings suggest that variation in the CD28/CTLA4 gene region is a determinant of coeliac disease susceptibility. Dissecting the sequence variation underlying this relationship will depend on further analyses utilising denser sets of markers.
- Publication
Annals of Human Genetics, 2002, Vol 66, Issue 2, p125
- ISSN
0003-4800
- Publication type
Article
- DOI
10.1017/S0003480002001021