Mutations
TREM2 c.-5030G>C (rs7759295)
Other Names: rs7759295
Quick Links
Overview
Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41168112 G>C
Position: (GRCh37/hg19):Chr6:41135850 G>C
dbSNP ID: rs7759295
Coding/Non-Coding: Non-Coding
DNA
Change: Substitution
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: 24 Jan 2023
References
Paper Citations
- Replogle JM, Chan G, White CC, Raj T, Winn PA, Evans DA, Sperling RA, Chibnik LB, Bradshaw EM, Schneider JA, Bennett DA, De Jager PL. 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
- Replogle JM, Chan G, White CC, Raj T, Winn PA, Evans DA, Sperling RA, Chibnik LB, Bradshaw EM, Schneider JA, Bennett DA, De Jager PL. A TREM1 variant alters the accumulation of Alzheimer-related amyloid pathology. Ann Neurol. 2015 Mar;77(3):469-77. PubMed.
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