Killer cell immunoglobulin-like receptor genotypes in Behçet's disease patients: any role for the 3DP1*001/002 pseudogene?
| Autor: | Amira S. Sabbagh, John Nasr, Nady El Hajj, Thourayya Arayssi, Georges Ibrahim, Ghazi Zaatari, Wael Shamseddine, Layal Greige, Rami Mahfouz |
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| Rok vydání: | 2009 |
| Předmět: |
Genotype
Pseudogene Population Killer-cell immunoglobulin-like receptor chemical and pharmacologic phenomena Behcet's disease Biology Gene Frequency Receptors KIR medicine Humans Lebanon education Allele frequency Genetics (clinical) Genetics education.field_of_study Behcet Syndrome Haplotype Case-control study General Medicine medicine.disease Killer Cells Natural Haplotypes Case-Control Studies Immunology Pseudogenes |
| Zdroj: | Genetic testing and molecular biomarkers. 13(3) |
| ISSN: | 1945-0257 |
| Popis: | Genotypic profiles of the natural killer cell immunoglobulin-like receptors (KIR) have been reported to vary among different ethnic groups and variable clinical entities. This study represents the second report on its distribution among patients with Behçet's disease (BD). We studied 43 unrelated Lebanese Behçet's patients, had their DNA typed using sequence-specific primer technique for the presence of 16 KIR genes and pseudogenes loci, and compared them to the general Lebanese population.In addition to sharing common features with the general population, the AA genotype was still the most frequent--however, with five new KIR profiles identified. There was no statistically significant distribution of the different KIR genes between the cases (BD patients) and controls (Lebanese population); however, KIR3DP1*001/002 was found to be significantly different between the BD patients and the Lebanese population, but this significance was lost after correction for all KIR loci.The results lead to an interesting future research question of whether or not KIR genotype is involved in the predisposition to or pathogenesis of BD especially that a pseudogene is controversially in question. This is the second report that describes the KIR genotypic profile in such an important clinical disease but the first to shed a light on the possible role of a pseudogene. |
| Databáze: | OpenAIRE |
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