TREM2 R47H（rs75932628）变异不太可能导致大型希腊多发性硬化症队列的多发性硬化症易感性和严重程度增加。

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

机构信息

Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, University of Thessaly, Larissa, Greece.

Neurogenetics Unit, 1st Department of Neurology, University of Athens, Medical School, Eginition Hospital, Athens, Greece.

出版信息

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

DOI:10.1016/j.msard.2019.07.007

PMID:31362167

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.

摘要

背景

多发性硬化症是一种中枢神经系统的多因素自身免疫性疾病，其特征是局灶性炎症、脱髓鞘和继发性轴索损伤。TREM2 是一种信号蛋白，通过参与炎症、增殖和吞噬作用而参与固有免疫系统。TREM2 基因的 R47H（rs75392628）稀有变体与各种神经疾病有关，并导致信号转导受损、脂蛋白结合、脂蛋白摄取和表面摄取受损。