TREM2 coding variants in Slovak Alzheimer's disease patients

Abstract

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 > T (R47H), rs142232675 C > T (D87N), rs143332484 C > T (R62H), and rs2234253 G > T (T96K). R47H was found only in the AD group, while T96K was present only in the controls. Although no significant association between TREM2 coding variants and LOAD susceptibility has been detected, the observed odds ratio (OR) of 3.69 for R47H carriers suggests an increased risk of LOAD for this variant in the Slovak population. Moreover, we also found a higher OR for the rs143332484-T allele in APOE ε4 non-carriers (1.99) when compared to APOE ε4 carriers (0.62). Conclusions: Our results suggest an impact of specific TREM2 rare coding variants on AD risk in the Slovak population.

Triggering Receptor Expressed on Myeloid Cells 2 Mediates the Involvement of M2-Type Macrophages in Pulmonary Tuberculosis Infection

“… 15 , 16 Additionally, increased TREM2 expression in monocytes from Alzheimer’s disease patients has been found to play an important role in the progression of the disease. 17 Some scholars believe that TREM2 plays a key role in promoting the inflammatory Th1 response when infected with Mtb . 18 This study aims to explore the expression level of TREM2 in pulmonary tuberculosis patients and its relationship with macrophage polarization.…”