liu.seSearch for publications in DiVA
Change search
ReferencesLink to record
Permanent link

Direct link
Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease
Linköping University, Faculty of Health Sciences. Linköping University, Department of Molecular and Clinical Medicine, Pediatrics.
Show others and affiliations
2002 (English)In: Annals of Human Genetics, ISSN 0003-4800, E-ISSN 1469-1809, Vol. 66, no 2, 125-137 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2002. Vol. 66, no 2, 125-137 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-26468DOI: 10.1017/S0003480002001021Local ID: 11019OAI: diva2:247017
Available from: 2009-10-08 Created: 2009-10-08 Last updated: 2016-03-22

Open Access in DiVA

No full text

Other links

Publisher's full text

Search in DiVA

By author/editor
Högberg, LottaFälth-Magnusson, KarinStenhammar, Lars
By organisation
Faculty of Health SciencesPediatricsBarn
In the same journal
Annals of Human Genetics
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 47 hits
ReferencesLink to record
Permanent link

Direct link