title: Killer cell immunoglobulin-like receptor gene-cluster 3DS1-2DL5-2DS1-2DS5 predisposes susceptibility to Vogt-Koyanagi-Harada syndrome in Japanese individuals.
abstract: Killer cell immunoglobulin-like receptors (KIR) control the effector function of natural killer (NK) cells and subsets of T cell, and the genes encoding KIRs are substantially variable among individuals. A majority (58.4%) of Japanese individuals were found to be homozygous for group A KIR haplotypes that encode only a single activating KIR2DS4. Contrarily, most of Japanese patients with Vogt-Koyanagi-Harada (VKH) disease (69.2%), a panuveitis carry Bx genotypes that encode 2-5 activating KIR receptors. Particularly, individuals carrying three activating KIR genes 3DS1, 2DS1, and 2DS5 are more frequent in patient group compared with the controls (42.2% vs 21.4%, p = 0.02). In addition, the inhibitory KIR gene 3DL1 was significantly decreased in patients compared with controls (76.9% vs 98.8%, p = 0.00006). These data suggest that the genotypes encoding a dominant activating KIR receptor repertoire predispose susceptibility to VKH disease.
authors.affiliation: Ocular Inflammatory Disease Center, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, University of California Los Angeles, Los Angeles, CA 90024, USA.
authors.forename: Ralph D
authors.initials: RD
authors.lastname: Levinson
authors.forename: Annabelle A
authors.initials: AA
authors.lastname: Okada
authors.forename: Elham
authors.initials: E
authors.lastname: Ashouri
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Keino
authors.forename: Raja
authors.initials: R
authors.lastname: Rajalingam
mesh_terms: D044466:Asian People; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D005810:Multigene Family; D054340:Receptors, KIR / Q000235:genetics*; D013577:Syndrome; D014607:Uveomeningoencephalitic Syndrome / Q000235:genetics*
chemical_list: D054340:Receptors, KIR