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Start Over Author "Catamo, Eulalia" Journal american journal of gastroenterology
4 results on '"Catamo, Eulalia"'

3. HLA-G 14 bp Deletion/Insertion Polymorphism in Celiac Disease

Author

Marcello Morgutti, Ludovica Segat, Anna Vendramin, Annalisa Fabris, Eulalia Catamo, Sergio Crovella, Fabris, A, Segat, Ludovica, Catamo, Eulalia, Morgutti, M, Vendramin, A, and Crovella, Sergio

Subjects
Adult, Male, Linkage disequilibrium, Adolescent, Genotype, RNA Stability, HLA-G, Human leukocyte antigen, Biology, Polymerase Chain Reaction, Young Adult, Celiac disease, 14 bp deletion/insertion, Antigen, HLA Antigens, Reference Values, HLA-DQ Antigens, Genetic model, Confidence Intervals, Odds Ratio, Humans, Cytotoxic T cell, Genetic Predisposition to Disease, Allele, Child, Alleles, Aged, Sequence Deletion, Aged, 80 and over, HLA-G Antigens, Polymorphism, Genetic, Hepatology, Histocompatibility Antigens Class I, Gastroenterology, Middle Aged, Celiac Disease, Mutagenesis, Insertional, Case-Control Studies, Child, Preschool, Immunology, Female
Abstract

OBJECTIVES: Nonclassical major histocompatibility class I HLA-G antigen is a tolerogenic molecule that inhibits lytic activity of natural killer (NK) cells and cytotoxic T lymphocytes. Because of its immunomodulatory and tolerogenic properties, HLA-G molecules may have a role in celiac disease (CD). We analyzed the HLA-G 14 bp deletion/insertion polymorphism, known to have a functional effect on mRNA stability, in a group of 522 CD patients, stratified for the presence of HLA-DQ2 genotype, and 400 healthy individuals to evaluate the possible effect of the polymorphism on the risk to develop the disease. METHODS: HLA-G 14 bp deletion/insertion polymorphism (rs1704) was detected by polymerase chain reaction and double-checked by direct sequencing. RESULTS: The 14 bp inserted (I) allele and the homozygous I/I genotype were significantly more frequent in CD patients than in healthy controls. The presence of I allele was associated with an increased risk of CD (OR 1.35) and the effect of I allele was consistent with a recessive genetic model (P

Published
2011
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4. The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with celiac disease.

Author

Pontillo A, Vendramin A, Catamo E, Fabris A, and Crovella S

Subjects
Adolescent, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Genotype, Glutamine, Haplotypes, Humans, Italy, Lysine, Male, NLR Family, Pyrin Domain-Containing 3 Protein, NLR Proteins, Polymorphism, Single Nucleotide, Adaptor Proteins, Signal Transducing genetics, Apoptosis Regulatory Proteins genetics, Carrier Proteins genetics, Celiac Disease genetics, Inflammasomes genetics, Mutation, Missense
Abstract

Objectives: Celiac disease (CD) is a multifactorial common disorder with several susceptibility loci. Variations in the NALP1/NLRP1 and NALP3/NLRP3 genes have been reported to confer risk for several autoimmune conditions. We hypothesized that polymorphisms in these genes, due to their role in innate immunity and inflammatory processes, may affect susceptibility to CD., Methods: Two single-nucleotide polymorphisms (SNPs) in NLRP1 (rs12150220, rs2670660) and two SNPs (rs10754558, rs35829419) in NLRP3 genes were genotyped in 504 CD Italian patients and 256 healthy controls., Results: The minor A allele of NLRP3 rs35829419 (Q705K) polymorphism appeared to exert a protective role against the development of CD (P=0.029; odds ratio (OR)=0.56). Moreover, a particular NLRP1 haplotype was associated with predisposition to CD (P=0.003; OR=1.38), even more when present in combination with the rs35829419 major C allele (P=0.002; OR=1.42)., Conclusions: We hypothesized that the deregulation of CIAS1/NALP3/NLRP3 and NALP1/NLRP1 inflammasomes could have a role in CD pathogenesis.

Published
2011
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