title: CTLA-4 +49 and TNF-alpha-308 gene polymorphisms in celiac patients with exocrine pancreatic insufficiency.
abstract: Celiac disease (CD) is a life-long gluten sensitive autoimmune disease of the small intestine affecting genetically susceptible individuals. Human leukocyte antigen (HLA) genotype contributes to the genetic risk for CD, but "non-HLA" genes also play a role. Clinical presentation could be classical, but majority of patients present with non-classical, atypical signs and symptoms. Endocrine and/or exocrine pancreatic insufficiency (EXPI) is common in celiac patients. The aim of our study was to assess EXPI among our CD patients by measurement of faecal pancreatic elastase (FE1) and to find potential association of CTLA-4 +49 and TNF-alpha-308 gene polymorphism and EXPI. Eighty three patients entered the study. Tissue transglutaminase antibodies (anti-TTG), faecal elastase-1 (FE1) assays and genotyping for the CTLA-4 +49A/G and TNF-alpha308 were performed. Of 83 patients with CD EXPI had 13 (15.6 %). There was no statistically significant difference in frequency of polymorphisms for both genes (CTL-4 +49 i TNF-alpha-308) in the group with and without EXPI. In conclusion, EXPI is common in symptomatic CD patients, but further genetic studies with larger number of patients are needed.
authors.affiliation: University of Rijeka, University Hospital Center Rijeka, Division of Internal Medicine, Department of Gastroenterology, Rijeka, Croatia. vlicul2@yahoo.com
authors.forename: Vanja
authors.initials: V
authors.lastname: Licul
authors.affiliation: University of Rijeka, School of Medicine, Department of Biology and Medical Genetics, Rijeka, Croatia.
authors.forename: Nada Starcević
authors.initials: NS
authors.lastname: Cizmarević
authors.affiliation: University of Rijeka, School of Medicine, Department of Biology and Medical Genetics, Rijeka, Croatia.
authors.forename: Smiljana
authors.initials: S
authors.lastname: Ristić
authors.affiliation: University of Rijeka, University Hospital Center Rijeka, Division of Internal Medicine, Rijeka, Croatia.
authors.forename: Ivana
authors.initials: I
authors.lastname: Mikolasević
authors.affiliation: University of Rijeka, University Hospital Center Rijeka, Division of Internal Medicine, Department of Gastroenterology, Rijeka, Croatia.
authors.forename: Brankica Sincić
authors.initials: BS
authors.lastname: Mijandrusić
mesh_terms: D000328:Adult; D060908:CTLA-4 Antigen / Q000235:genetics*; D002446:Celiac Disease / Q000150:complications / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D014409:Tumor Necrosis Factor-alpha