title: Distribution of killer cell immunoglobulin-like receptor (KIR) genotypes in patients with familial Mediterranean fever.
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.
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. rm11@aub.edu.lb
authors.forename: Rami A R
authors.initials: RA
authors.lastname: Mahfouz
authors.forename: Amira S
authors.initials: AS
authors.lastname: Sabbagh
authors.forename: Wael
authors.initials: W
authors.lastname: Shamseddine
authors.forename: Ali
authors.initials: A
authors.lastname: Bazarbachi
authors.forename: Georges
authors.initials: G
authors.lastname: Ibrahim
authors.forename: Thourayya
authors.initials: T
authors.lastname: Arayssi
authors.forename: Nady
authors.initials: N
authors.lastname: El Hajj
authors.forename: Roni
authors.initials: R
authors.lastname: Rayes
authors.forename: Ghazi S
authors.initials: GS
authors.lastname: Zaatari
authors.forename: Georges
authors.initials: G
authors.lastname: Khazen
authors.forename: Roy A
authors.initials: RA
authors.lastname: Khalaf
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000276:immunology*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology; D007861:Lebanon; D008297:Male; D008875:Middle Aged; D054340:Receptors, KIR / Q000235:genetics*; D055815:Young Adult
chemical_list: D054340:Receptors, KIR