Mutations

TREM2 c.-2986T>C (rs7748777)

Other Names: rs7748777

Overview

Pathogenicity: Alzheimer's Disease : Possible Risk Modifier
Clinical Phenotype: Alzheimer's Disease, ~ 1 year follow-up
Position: (GRCh38/hg38):Chr6:41166068 C>T
Position: (GRCh37/hg19):Chr6:41133806 C>T
dbSNP ID: rs7748777
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Genomic Region: Upstream

Findings

The rs7748777 SNP, located approximately 3 kb upstream of TREM2, may be associated with slower clinical progression of Alzheimer’s disease. Patients from the University of Pittsburgh Alzheimer’s Disease Research Center were classified as slowly progressing (change of < 2 points on the MMSE over the course of 12 months, N = 373) or rapidly progressing (change of > 3 points on the MMSE over the course of 12 months, N = 307). The rs7748777 SNP was nominally associated with slower disease progression (odds ratio 1.34, p = 0.011) (Wang et al., 2015).

Last Updated: 24 Jan 2023

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References

Paper Citations

  1. Wang X, Lopez OL, Sweet RA, Becker JT, DeKosky ST, Barmada MM, Demirci FY, Kamboh MI. Genetic determinants of disease progression in Alzheimer's disease. J Alzheimers Dis. 2015;43(2):649-55. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. Wang X, Lopez OL, Sweet RA, Becker JT, DeKosky ST, Barmada MM, Demirci FY, Kamboh MI. Genetic determinants of disease progression in Alzheimer's disease. J Alzheimers Dis. 2015;43(2):649-55. PubMed.

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