title: KIR2DL4 (CD158d) polymorphisms and susceptibility to multiple sclerosis.
abstract: Several lines of evidence implicate CD56(bright) NK cells in the pathogenesis of multiple sclerosis (MS). This proposed immunoregulatory pathway involves already established susceptibility genes such as interleukin-2 receptor alpha (IL2RA) and interleukin-7 receptor (IL7R). We therefore investigated the CD56(bright) NK cell effector molecule KIR2DL4 for its involvement in genetic susceptibility to MS in a study population of 763 cases and 967 controls. Whereas 26% of the study population has a genotype corresponding to a lack of any functional membrane-bound form of the molecule, no association of the KIR2DL4 transmembrane alleles with susceptibility to MS was observed.
authors.affiliation: Katholieke Universiteit Leuven, Belgium. An.Goris@med.kuleuven.be
authors.forename: An
authors.initials: A
authors.lastname: Goris
authors.forename: Rita
authors.initials: R
authors.lastname: Dobosi
authors.forename: Steven
authors.initials: S
authors.lastname: Boonen
authors.forename: Guy
authors.initials: G
authors.lastname: Nagels
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Dubois
mesh_terms: D000328:Adult; D019002:CD56 Antigen / Q000378:metabolism; D002462:Cell Membrane / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D011110:Polymorphism, Genetic / Q000235:genetics*; D011237:Predictive Value of Tests; D054345:Receptors, KIR2DL4 / Q000235:genetics*; D055815:Young Adult
chemical_list: D019002:CD56 Antigen; D005819:Genetic Markers; C515079:KIR2DL4 protein, human; D054345:Receptors, KIR2DL4