Population-based case-control study of alpha 1-antitrypsin and SLC11A1 in Crohn's disease and ulcerative colitis. - Publication - Bridge of Knowledge

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Population-based case-control study of alpha 1-antitrypsin and SLC11A1 in Crohn's disease and ulcerative colitis.

Abstract

Background: Crohn’s disease (CD) and ulcerative colitis (UC) are chronic inflammatory diseases of the digestive tract. Genetic factors and an abnormal immune response to infections are suspected to be involved in inflammatory bowel diseases. Methods: In the present study 300 blood samples from CD patients (n 100), UC patients (n 100), and healthy controls (n 100) were taken from a population-based case-control study. PCR assays and capillary electrophoresis were used to detect alpha 1 antitrypsin M, S, and Z alleles and the C-to-T transition at the 237 nucleotide position of the SLC11A1 promoter. Additionally, length polymorphism of (gt)n alleles in the promoter region and TGTG and CAAA insertion/deletion in the untranslated region (3 UTR) of the SLC11A1 gene were evaluated. Results: The Z allele only for AAT was associated (P 0.05) with CD. No other significant results were detected for AAT alleles. For SLC11A1, alleles 1 and 2 were significant (P 0.05) for UC, but only allele 3 was significant (P 0.05) for CD. There was a significant (P 0.05) association of a CAAA insertion with CD but not for deletion in the 3 UTR. No differences (P 0.05) were detected for TAAA. Conclusions: Because AAT and SLC11A1 proteins directly or indirectly function as inhibitors of human leukocyte elastase, mutations in the AAT and SLC11A1 genes may change the balance between elastase produced by leukocytes during phagocytosis.

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Category:
Articles
Type:
artykuł w czasopiśmie wyróżnionym w JCR
Published in:
INFLAMMATORY BOWEL DISEASES no. 14, pages 1112 - 1117,
ISSN: 1078-0998
Language:
English
Publication year:
2008
Bibliographic description:
Kotłowski R., Bernstein C., Silverberg M., Krause D.: Population-based case-control study of alpha 1-antitrypsin and SLC11A1 in Crohn's disease and ulcerative colitis.// INFLAMMATORY BOWEL DISEASES. -Vol. 14, nr. 8 (2008), s.1112-1117
DOI:
Digital Object Identifier (open in new tab) 10.1002/ibd.20425
Verified by:
Gdańsk University of Technology

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