
THERE IS NO ASSOCIATION BETWEEN THE –318 (C→T) AND +49 (A→G)
CTLA4 GENE POLYMORPHISMS AND THE COELIAC CONDITION
IN THE MALTESE POPULATION
Borg J1,*, Scerri CA1,3, Vidal C2, Xuereb Anastasi A1,2 *Corresponding Author: Joseph Borg, B.Sc (Hons) MLS, Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, Biomedical Science Building, University of Malta, Msida, Malta; Tel.: +356-2340-2774, Fax: +356-2134-3535, E-mail: joseph.borg@biotech.um.edu.mt
page: 49
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Abstract
The coeliac condition (CD) has an autoimmune component in genetically predisposed individuals which is triggered by the gliadin component of gluten found in wheat. The CD manifests itself in partial or total villus destruction of the small intestine with consequent malabsorption and malnutrition. The main triggering factor is a transglutaminated peptide within the gliadin component of wheat gluten. An established HLA component is responsible for about 35% of the genetic predisposition. The –318 (C→T) and +49 (A→G) single nucleotide polymorphisms (SNPs) were studied in 100 biopsy-confirmed coeliac patients and in 187 DNA samples from neonatal controls representing a random number of the Maltese population. No association of the SNPs or the combined haplotypes was apparent amongst the CD patients. The –318 C allele and the +49 A allele were in linkage disequilibrium in the neonatal samples.
Key words: Coeliac condition (CD); CTLA4; Linkage disequilibrium.
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1 Institute of Health Care, University of Malta, Guardamangia, Malta
2 Department of Pathology, University of Malta Medical School, Guardamangia, Malta
3 Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta
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