Mutations

TREM2 A105V

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype:
Reference Assembly: GRCh37 (105)
Position: Chr6:41129078 C>T
dbSNP ID: rs145080901
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GCG to GTG
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

In a case-control study of almost 34,000 Caucasian individuals, the A105V variant did not associate with Alzheimer’s disease (approximately 18,000 AD and 16,000 controls; odds ratio: 2.4, p = 0.2) (Sims et al., 2017). Nor was an association between this variant and AD found in a small study of African-Americans (202 AD, 136 controls; odds ratio 0.67, p= 1) (Jin et al., 2015).

Neuropathology

No data.

Biological Effect

No data.

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. . Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017 Sep;49(9):1373-1384. Epub 2017 Jul 17 PubMed.
  2. . TREM2 is associated with increased risk for Alzheimer's disease in African Americans. Mol Neurodegener. 2015 Apr 10;10:19. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017 Sep;49(9):1373-1384. Epub 2017 Jul 17 PubMed.
  2. . TREM2 is associated with increased risk for Alzheimer's disease in African Americans. Mol Neurodegener. 2015 Apr 10;10:19. PubMed.

Other mutations at this position

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