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