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| 2. |
- Popat, S, et al.
(författare)
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Genome screening of coeliac disease.
- 2001
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Ingår i: Journal of Medical Genetics. - 0022-2593 .- 1468-6244. ; 39, s. 328-331
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Popat, S, et al.
(författare)
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Germline mutations in TGM2 do not contribute to coeliac disease susceptibility in the Swedish population
- 2001
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Ingår i: European Journal of Gastroenterology and Hepathology. - : Ovid Technologies (Wolters Kluwer Health). - 0954-691X .- 1473-5687. ; 13:12, s. 1477-1479
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Coeliac disease (CD) shows a strong genetic predisposition involving HLA-DQ2 and non-HLA components. Tissue transglutaminase, encoded by TGM2, occupies a central role in the CD pathogenesis, necessary for the deamidation of specific glutamine residues of a-gliadin creating a T-cell epitope that binds with increased affinity to DQ2. To investigate whether germline mutations in TGM2 contribute to disease susceptibility we have carried out a comprehensive analysis of the gene in 52 patients with CD. Design: Blood samples were collected from 52 children with biopsy proven CD attending one Swedish centre. DNA was estracted from lymphocytes and all exons and intronexon boundaries of the TGM2 gene and the alternatively spliced form of the gene were screened for mutations. Methods: Mutational analysis was undertaken by a combination of conformational specific gel electrophoresis and direct sequencing. Results: Three novel polymorphisms were identified but no pathogenic mutations were detected. Conclusions: There is no evidence from this study that mutations in TGM2, which lead to an altered protein, contribute to CD susceptibility.
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| 4. |
- Popat, S, et al.
(författare)
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Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease
- 2002
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Ingår i: Annals of Human Genetics. - : Wiley. - 1469-1809 .- 0003-4800. ; 66:2, s. 125-137
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Tidskriftsartikel (refereegranskat)abstract
- Susceptibility to coeliae 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 coeliae 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 (910 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.
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