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Functional polymorphisms of the receptor for the advanced glycation end product promoter gene in inflammatory bowel disease: a case-control study

Ciccocioppo, Rachele
Author Ciccocioppo, Rachele Gastroenterology Unit, Department of Medicine, AOUI Policlinico G.B. Rossi and University of Verona, Piazzale L.A. Scuro, 10, 37134, Verona, Italy. rachele.ciccocioppo@univr.it
Bozzini, Sara
Author Bozzini, Sara Interdipartimental Center for the Molecular Medicine Research and Cardiology Unit, Istituto di Cura Città di Pavia and University of Pavia, Pavia, Italy
Betti, Elena
Author Betti, Elena Clinica Medica I, Department of Internal Medicine and Therapeutics, I.R.C.C.S. Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy
Imbesi, Venerina
Author Imbesi, Venerina Gastroenterology and Digestive Endoscopy Unit, Legnano Hospital, ASST Ovest Milanese, Legnano, Italy
Klersy, Catherine
Author Klersy, Catherine Service of Clinical Epidemiology and Biostatistics, Fondazione I.R.C.C.S. Policlinico San Matteo, Pavia, Italy
Lakyova, Lucia Sukovska
Author Lakyova, Lucia Sukovska 1st Department of Surgery, Faculty of Medicine, Pavol Jozef Safarik University and Louis Pasteur University Hospital, Trieda SNP1, 040 11, Kosice, Slovakia. lucia.lakyova@upjs.sk
Sukovsky, Lukas
Author Sukovsky, Lukas 1st Department of Surgery, Faculty of Medicine, Pavol Jozef Safarik University and Louis Pasteur University Hospital, Trieda SNP1, 040 11, Kosice, Slovakia
Benacka, Jozef
Author Benacka, Jozef Faculty of Health and Social Work, Trnava University, Trnava, Slovakia
Kruzliak, Peter
Author Kruzliak, Peter ORCID Department of Internal Medicine, Brothers of Mercy Hospital, Polni 3, 63900, Brno, Czech Republic. kruzliakpeter@gmail.com 2nd Department of Surgery, Faculty of Medicine, Masaryk University and St. Anne's University Hospital, Brno, Czech Republic. kruzliakpeter@gmail.com
Corazza, Gino Roberto
Author Corazza, Gino Roberto Clinica Medica I, Department of Internal Medicine and Therapeutics, I.R.C.C.S. Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy
Di Sabatino, Antonio
Author Di Sabatino, Antonio Clinica Medica I, Department of Internal Medicine and Therapeutics, I.R.C.C.S. Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy
Falcone, Colomba
Author Falcone, Colomba Interdipartimental Center for the Molecular Medicine Research and Cardiology Unit, Istituto di Cura Città di Pavia and University of Pavia, Pavia, Italy

Clinical and experimental medicine. 2019 Aug ; 19 (3) : 367-375. [epub] 20190607

Clin Exp Med
ISSN 1591-9528 | 1591-8890
Source

Language English Country Italy Media print-electronic

Document type Journal Article

Persistent link https://www.medvik.cz/link/pmid31175506

PubMed 31175506
DOI 10.1007/s10238-019-00562-x
PII: 10.1007/s10238-019-00562-x
Knihovny.cz E-resources

Keywords
Gene polymorphisms, Inflammatory bowel disease, RAGE,
MeSH
Adult MeSH
Gene Frequency MeSH
Genetic Predisposition to Disease * MeSH
Genotype MeSH
Genotyping Techniques MeSH
Inflammatory Bowel Diseases genetics MeSH
Polymorphism, Single Nucleotide * MeSH
Middle Aged MeSH
Humans MeSH
Young Adult MeSH
Polymorphism, Restriction Fragment Length MeSH
Prevalence MeSH
Promoter Regions, Genetic * MeSH
Receptor for Advanced Glycation End Products genetics MeSH
Case-Control Studies MeSH
Check Tag
Adult MeSH
Middle Aged MeSH
Humans MeSH
Young Adult MeSH
Male MeSH
Female MeSH
Publication type
Journal Article MeSH
Names of Substances
AGER protein, human MeSH Browser
Receptor for Advanced Glycation End Products MeSH

The receptor for the advanced glycation end products (RAGE) is a multiligand transmembrane receptor involved in chronic inflammation whose specific polymorphisms of the promoter gene were found to increase its transcriptional activity. We investigated the association of both allelic and genotypic -374T/A and -429T/C polymorphisms with inflammatory bowel disease. The STREGA guidelines were applied for planning and reporting. We enrolled 133 patients with Crohn's disease (CD), 149 with ulcerative colitis (UC), and 128 blood donors. Genomic DNA was extracted from peripheral blood leukocytes collected from each patient and control. RAGE polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. The Hardy-Weinberg equilibrium was first assessed, and then, the Kruskal-Wallis test and the Fisher exact test were used for etiologic group comparisons. Distribution of patients' characteristics across genotypes was evaluated by the Fisher exact test, while that across alleles was analyzed with a probit model. A 2-sided value of p < 0.05 was considered significant. Following the evidence of the Hardy-Weinberg equilibrium, we found a higher prevalence of the allele A of the -374T/A haplotype in UC (p = 0.043), and of the allele C of the -429T/C haplotype in CD (p < 0.001) with respect to the other groups. Moreover, the homozygous AA genotype of the -374T/A polymorphism resulted associated with late onset of CD, while its TT genotype with early onset (p = 0.049). The allele C of the 429T/C haplotype was associated with early onset of UC (p = 0.03), while a higher frequency of the heterozygous TC haplotype was found in those with pancolitis (p = 0.026). The differing distribution of these polymorphisms in healthy donors and CD/UC patients suggests a role in the development and outcome of these pathological conditions.

1st Department of Surgery Faculty of Medicine Pavol Jozef Safarik University and Louis Pasteur University Hospital Trieda SNP1 040 11 Kosice Slovakia

2nd Department of Surgery Faculty of Medicine Masaryk University and St Anne's University Hospital Brno Czech Republic

Clinica Medica 1 Department of Internal Medicine and Therapeutics 1 R C C S Policlinico San Matteo Foundation and University of Pavia Pavia Italy

Department of Internal Medicine Brothers of Mercy Hospital Polni 3 63900 Brno Czech Republic

Faculty of Health and Social Work Trnava University Trnava Slovakia

Gastroenterology and Digestive Endoscopy Unit Legnano Hospital ASST Ovest Milanese Legnano Italy

Gastroenterology Unit Department of Medicine AOUI Policlinico G B Rossi and University of Verona Piazzale L A Scuro 10 37134 Verona Italy

Interdipartimental Center for the Molecular Medicine Research and Cardiology Unit Istituto di Cura Città di Pavia and University of Pavia Pavia Italy

Service of Clinical Epidemiology and Biostatistics Fondazione 1 R C C S Policlinico San Matteo Pavia Italy

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