Variant of TREM2 Associated with the Risk of Alzheimer's Disease
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Implication
Genetic association study reveals increased Alzheimer's disease risk linked to the TREM2 R47H variant, indicating impaired containment of neuroinflammatory processes.
Key Points
- To investigate whether genetic variation in TREM2, particularly the R47H substitution, contributes to the pathogenesis and risk of Alzheimer's disease.
- Evaluated the relationship between the TREM2 R47H genetic variant and susceptibility to Alzheimer's disease.
- Assessed the putative functional impact of the variant on neuroinflammatory regulation based on the known antiinflammatory properties of TREM2.
- The R47H variant in TREM2 strongly associates with an elevated predisposition to developing Alzheimer's disease.
- The genetic alteration appears to compromise the containment of cerebral inflammatory responses, implicating neuroinflammation as a key driver of disease pathogenesis.
Cite This Study
Jónsson et al. (2012) studied this question.