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.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
CD56 Antigen / metabolism
-
Cell Membrane / genetics
-
Cell Membrane / immunology
-
Cell Membrane / metabolism
-
DNA Mutational Analysis
-
Female
-
Gene Frequency / genetics
-
Genetic Markers / genetics
-
Genetic Predisposition to Disease / genetics*
-
Genetic Testing
-
Genotype
-
Humans
-
Killer Cells, Natural / immunology
-
Male
-
Middle Aged
-
Multiple Sclerosis / genetics*
-
Multiple Sclerosis / immunology
-
Multiple Sclerosis / physiopathology
-
Polymorphism, Genetic / genetics*
-
Predictive Value of Tests
-
Receptors, KIR2DL4 / genetics*
-
Young Adult
Substances
-
CD56 Antigen
-
Genetic Markers
-
KIR2DL4 protein, human
-
Receptors, KIR2DL4