European journal of gastroenterology & hepatology · 2001
Germline mutations in TGM2 do not contribute to coeliac disease susceptibility in the Swedish population.
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Popat S, Hogberg L, McGuire S, Green H, Bevan S, Stenhammar L, Houlston R S
Аннотация
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 alpha-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 extracted from lymphocytes and all exons and intron-exon 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.
DESIGN: Blood samples were collected from 52 children with biopsy proven CD attending one Swedish centre. DNA was extracted from lymphocytes and all exons and intron-exon 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.