Academic Editor: Qiu-Lan Ma
Background: Triggering receptor expressed on myeloid cells 2 (TREM2) is
an important modulator of innate immune responses. In the human brain, TREM2 is
primarily expressed on microglia and is involved in cell survival, phagocytosis,
and regulation of inflammation. TREM2 dysfunction has been linked to the
pathogenesis of various neurodegenerative diseases including Alzheimer’s disease
(AD). Rare coding variants of the TREM2 gene have been reported to
modulate AD risk in several populations, however, data on their association with
susceptibility to AD in the Slovak population have been missing.
Methods: We have analyzed 10 non-synonymous coding variants located
in TREM2 exon 2 by direct sequencing in 270 late-onset Alzheimer’s
disease (LOAD) patients and 331 controls. Results: Four out of
10 TREM2 mutant variants have been identified in the analyzed groups,
namely rs75932628 C