Distribution of killer cell immunoglobulin-like receptor (KIR) genotypes in patients with familial Mediterranean fever.

Rami A R Mahfouz, Amira S. Sabbagh, Wael Shamseddine, Ali Bazarbachi, Georges Ibrahim, Thurayya Arayssi, Nady El Hajj, Roni Rayes, Ghazi S. Zaatari, Georges Khazen, Roy A. Khalaf

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Abstract

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 first report on its distribution among patients with familial Mediterranean fever (FMF). We studied 56 unrelated Lebanese FMF patients, had their DNA typed using sequence-specific primer (SSP) technique for the presence of 16 KIR gene and pseudogene loci, and compared them to the general Lebanese population. The AA1 genotype was the most frequent in both the FMF and control groups. Six new KIR profiles were identified. The FMF group showed a higher prevalence of KIR 3DP1*003 (p<0.05) and an increase in the BB genotype compared with controls. The results lead to an interesting future research question of whether or not KIR genotype is involved in the predisposition to or pathogenesis of FMF. This is the first report that describes the KIR genotypic profile in this important clinical disease.

Original languageEnglish
Pages (from-to)91-95
Number of pages5
JournalGenetic Testing and Molecular Biomarkers
Volume13
Issue number1
DOIs
Publication statusPublished - Feb 2009
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Mahfouz, R. A. R., Sabbagh, A. S., Shamseddine, W., Bazarbachi, A., Ibrahim, G., Arayssi, T., El Hajj, N., Rayes, R., Zaatari, G. S., Khazen, G., & Khalaf, R. A. (2009). Distribution of killer cell immunoglobulin-like receptor (KIR) genotypes in patients with familial Mediterranean fever. Genetic Testing and Molecular Biomarkers, 13(1), 91-95. https://doi.org/10.1089/gtmb.2008.0081