Distribution of killer cell immunoglobulin-like receptor (KIR) genotypes in patients with familial Mediterranean fever.
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.
Mahfouz
Rami A R
RA
Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. rm11@aub.edu.lb
Sabbagh
Amira S
AS
Shamseddine
Wael
W
Bazarbachi
Ali
A
Ibrahim
Georges
G
Arayssi
Thourayya
T
El Hajj
Nady
N
Rayes
Roni
R
Zaatari
Ghazi S
GS
Khazen
Georges
G
Khalaf
Roy A
RA
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
D054340:Receptors, KIR