Highlights
- •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.
Abstract
Background
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.
Aim
To assess the role of TREM2 rs75932628 on MS risk through a genetic candidate gene
association case-control study in a Greek population.
Methods
1246 MS cases and 398 controls were genotyped for this variant.
Results
No MS or healthy subjects carried the variant.
Conclusion
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.
Keywords
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Article info
Publication history
Published online: July 20, 2019
Accepted:
July 19,
2019
Received in revised form:
June 28,
2019
Received:
March 7,
2019
Identification
Copyright
© 2019 Published by Elsevier B.V.
