Mutations

TREM2 rs7759295

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype:
Reference Assembly: GRCh37/hg19
Position: Chr6:41135850 G>C
dbSNP ID: rs7759295
Coding/Non-Coding: Non-Coding
Mutation Type: Point
Genomic Region: Upstream

Findings

The rs7759295 SNP, located approximately 5 kb upstream of TREM2, was associated with a higher burden of neurofibrillary tangles and a more rapid rate of cognitive decline in subjects from three prospective cohort studies—the Religious Orders Study, the Rush Memory and Aging Project, and the Chicago Health and Aging Project (Replogle et al., 2015). In this study, the variant did not associate with amyloid plaques, amyloid angiopathy, Lewy body pathology, terminally activated microglia, cerebral infarcts, or a clinical diagnosis of Alzheimer’s disease.

Last Updated: 27 Mar 2019

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References

Paper Citations

  1. . A TREM1 variant alters the accumulation of Alzheimer-related amyloid pathology. Ann Neurol. 2015 Mar;77(3):469-77. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . A TREM1 variant alters the accumulation of Alzheimer-related amyloid pathology. Ann Neurol. 2015 Mar;77(3):469-77. PubMed.

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