Association analysis of MICA gene polymorphism and MICA-129 dimorphism with inflammatory bowel disease susceptibility in a Spanish population
| Autor: | Alfredo Minguela, Ruth López-Hernández, José A. Campillo, María R. Álvarez-López, Manuela López, Manuel Muro, Carmen Botella, Gema Salgado, Mariano Valdés, Manuel Miras, Pedro Martinez-Garcia, Daniel Lucas, Hortensia Salama, Fernando Carballo |
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| Rok vydání: | 2009 |
| Předmět: |
Immunology
Population Single-nucleotide polymorphism Biology Inflammatory bowel disease Polymerase Chain Reaction Polymorphism Single Nucleotide Genotype medicine Immunology and Allergy Humans Genetic Predisposition to Disease Allele education Genotyping Genetic association Genetics education.field_of_study Haplotype Histocompatibility Antigens Class I General Medicine medicine.disease Inflammatory Bowel Diseases Molecular biology stomatognathic diseases Spain |
| Zdroj: | Human immunology. 71(5) |
| ISSN: | 1879-1166 |
| Popis: | MICA is located at 46 kb centromeric of HLA-B, is highly polymorphic and interactions with NKG2D, its receptor on the surface of NK, Tgammadelta, and T CD8 lymphocytes. A variation at amino acid position 129 of the alpha2-heavy chain domain seems to categorize MICA alleles into strong and weak binder of NKG2D receptor, and thereby to influence effector cell function. Our aim was to study allele polymorphism of MICA and the functionally relevant dimorphism (129val/met) of MICA gene in inflammatory bowel disease (IBD) patients in our population. DNA was obtained from IBD patients (n = 88) and unrelated healthy Murcians (n = 154) and used to MICA genotyping using polymerase chain reaction-sequence-specific oligonucleotides. We did not find statistical differences in the distribution of MICA alleles between the IBD and control groups. However, we found a higher frequency of MICA-129met/met and a lower frequency of MICA-129val/met genotypes in IBD patients (mainly in ulcerative colitis) than in controls (pc = 0.02). These preliminary data could suggest a relevant role of MICA-129-val/met SNP (weak/strong binders of NKG2D receptor) in the pathogenesis of IBD. |
| Databáze: | OpenAIRE |
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