Mutations

TREM2 rs7748777

Overview

Pathogenicity: Alzheimer's Disease : Possible Risk Modifier
Clinical Phenotype: Alzheimer's Disease, ~ 1 year follow-up
Reference Assembly: GRCh37/hg19
Position: Chr6:41133806 C>T
dbSNP ID: rs7748777
Coding/Non-Coding: Non-Coding
Mutation Type: Point
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: 07 Feb 2018

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References

Paper Citations

  1. . 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. . Genetic determinants of disease progression in Alzheimer's disease. J Alzheimers Dis. 2015;43(2):649-55. PubMed.

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