- •Multiple sclerosis is a multifactorial disease of the central nervous system.
- •TREM2 protein is implicatied to inflammation, proliferation and phagocytosis.
- •Rs75392628 variant across TREM2 gene has been related to neurological diseases.
- •None of the 1246 MS cases and 398 controls carried this variant.
- •Rs75392628 does not seem to play a determining role in the pathogenesis of MS.
Multiple Sclerosis is a multifactorial autoimmune disease of the central nervous system, characterized by focal inflammation, demyelination and secondary axonal injury. TREM2 is a signaling protein which participates in the innate immune system by implication to inflammation, proliferation and phagocytosis. The R47H (rs75392628) rare variant of the TREM2 gene has been related to various neurological diseases and leads to impaired signaling, lipoprotein binding, lipoprotein uptake and surface uptake.
To assess the role of TREM2 rs75932628 on MS risk through a genetic candidate gene association case-control study in a Greek population.
1246 MS cases and 398 controls were genotyped for this variant.
No MS or healthy subjects carried the variant.
This variant does not seem to play a determining role in the pathogenesis of MS, although further studies examining the presence of TREM2 mutations in other, phylogenetically different populations and the epigenetic regulation of this gene are needed in order to thoroughly investigate its role in MS.
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Published online: July 20, 2019
Accepted: July 19, 2019
Received in revised form: June 28, 2019
Received: March 7, 2019
© 2019 Published by Elsevier B.V.