KIR2DL4 (CD158d) polymorphisms and susceptibility to multiple sclerosis.
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.
Goris
An
A
Katholieke Universiteit Leuven, Belgium. An.Goris@med.kuleuven.be
Dobosi
Rita
R
Boonen
Steven
S
Nagels
Guy
G
Dubois
Bénédicte
B
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
D019002:CD56 Antigen; D005819:Genetic Markers; C515079:KIR2DL4 protein, human; D054345:Receptors, KIR2DL4