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TREM2 R47H (rs75932628) variant is unlikely to contribute to Multiple Sclerosis susceptibility and severity in a large Greek MS cohort
dc.creator | Rikos D., Siokas V., Aloizou A.-M., Tsouris Z., Aslanidou P., Koutsis G., Anagnostouli M., Bogdanos D.P., Grigoriadis N., Hadjigeorgiou G.M., Dardiotis E. | en |
dc.date.accessioned | 2023-01-31T09:51:32Z | |
dc.date.available | 2023-01-31T09:51:32Z | |
dc.date.issued | 2019 | |
dc.identifier | 10.1016/j.msard.2019.07.007 | |
dc.identifier.issn | 22110348 | |
dc.identifier.uri | http://hdl.handle.net/11615/78514 | |
dc.description.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. © 2019 | en |
dc.language.iso | en | en |
dc.source | Multiple Sclerosis and Related Disorders | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85069872217&doi=10.1016%2fj.msard.2019.07.007&partnerID=40&md5=77da0f12e3cda10761fea46fc1ba8485 | |
dc.subject | arginine | en |
dc.subject | histidine | en |
dc.subject | triggering receptor expressed on myeloid cells 2 | en |
dc.subject | immunoglobulin receptor | en |
dc.subject | membrane protein | en |
dc.subject | TREM2 protein, human | en |
dc.subject | amino acid substitution | en |
dc.subject | Article | en |
dc.subject | case control study | en |
dc.subject | cohort analysis | en |
dc.subject | controlled study | en |
dc.subject | disease severity | en |
dc.subject | gene function | en |
dc.subject | genetic association | en |
dc.subject | genetic risk | en |
dc.subject | genetic susceptibility | en |
dc.subject | genetic variability | en |
dc.subject | genotype | en |
dc.subject | Greek (people) | en |
dc.subject | human | en |
dc.subject | major clinical study | en |
dc.subject | multiple sclerosis | en |
dc.subject | population genetics | en |
dc.subject | TREM2 gene | en |
dc.subject | female | en |
dc.subject | genetic polymorphism | en |
dc.subject | genetic predisposition | en |
dc.subject | genetics | en |
dc.subject | Greece | en |
dc.subject | male | en |
dc.subject | multiple sclerosis | en |
dc.subject | Case-Control Studies | en |
dc.subject | Female | en |
dc.subject | Genetic Predisposition to Disease | en |
dc.subject | Genotype | en |
dc.subject | Greece | en |
dc.subject | Humans | en |
dc.subject | Male | en |
dc.subject | Membrane Glycoproteins | en |
dc.subject | Multiple Sclerosis | en |
dc.subject | Polymorphism, Genetic | en |
dc.subject | Receptors, Immunologic | en |
dc.subject | Elsevier B.V. | en |
dc.title | TREM2 R47H (rs75932628) variant is unlikely to contribute to Multiple Sclerosis susceptibility and severity in a large Greek MS cohort | en |
dc.type | journalArticle | en |
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