TREM2 R47H (rs75932628) variant is unlikely to contribute to Multiple Sclerosis susceptibility and severity in a large Greek MS cohort

Dimitrios Rikos; Vasileios Siokas; Athina-Maria Aloizou; Zisis Tsouris; Paraskevi Aslanidou; Georgios Koutsis; Maria Anagnostouli; Dimitrios P Bogdanos; Nikolaos Grigoriadis; Georgios M Hadjigeorgiou; Efthimios Dardiotis

doi:10.1016/j.msard.2019.07.007

TREM2 R47H (rs75932628) variant is unlikely to contribute to Multiple Sclerosis susceptibility and severity in a large Greek MS cohort

Mult Scler Relat Disord. 2019 Oct:35:116-118. doi: 10.1016/j.msard.2019.07.007. Epub 2019 Jul 20.

Affiliations

¹ Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, University of Thessaly, Larissa, Greece.
² Neurogenetics Unit, 1st Department of Neurology, University of Athens, Medical School, Eginition Hospital, Athens, Greece.
³ Demyelinating Diseases Unit and Immunogenetics Laboratory, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
⁴ Cellular Immunotherapy & Molecular Immunodiagnostics, Biomedical Section, Centre for Research and Technology-Hellas (CERTH), Institute for Research and Technology-Thessaly (IRETETH), Larissa, Greece.
⁵ Laboratory of Experimental Neurology and Neuroimmunology, B' Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
⁶ Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, University of Thessaly, Larissa, Greece; Department of Neurology, Medical School, University of Cyprus, Nicosia, Cyprus.
⁷ Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, University of Thessaly, Larissa, Greece. Electronic address: [email protected].

PMID: 31362167
DOI: 10.1016/j.msard.2019.07.007

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: Genetics; MS; Multiple sclerosis; TREM2; Variant.

MeSH terms

Case-Control Studies
Female
Genetic Predisposition to Disease*
Genotype
Greece
Humans
Male
Membrane Glycoproteins / genetics*
Multiple Sclerosis / genetics*
Polymorphism, Genetic*
Receptors, Immunologic / genetics*

Substances

Membrane Glycoproteins
Receptors, Immunologic
TREM2 protein, human