Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Reference Assembly: GRCh37/hg19
Position: Chr6:41126395 G>T
dbSNP ID: rs530314472
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GAG to GAT
Reference Isoform: TREM2 Isoform 2 (219 aa)
Genomic Region: Exon 4 of transcript variant 2

Findings

In two cohorts of Caucasians, the E202 variant was found in one of 2077 Alzheimer’s patients and none of 1642 controls (p = 1) (Jin et al., 2014) and in none of 31 AD patients and one of 245 controls (Sirkis et al., 2016). In a study of African-Americans, the variant was found in none of 202 AD patients and one of 136 controls (p = 0.4) (Jin et al., 2015).

Neuropathology

No data.

Biological Effect

No data.

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References

Paper Citations

1. Jin SC, Benitez BA, Karch CM, Cooper B, Skorupa T, Carrell D, Norton JB, Hsu S, Harari O, Cai Y, Bertelsen S, Goate AM, Cruchaga C. Coding variants in TREM2 increase risk for Alzheimer's disease. Hum Mol Genet. 2014 Nov 1;23(21):5838-46. Epub 2014 Jun 4 PubMed.
2. Sirkis DW, Bonham LW, Aparicio RE, Geier EG, Ramos EM, Wang Q, Karydas A, Miller ZA, Miller BL, Coppola G, Yokoyama JS. Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression. Acta Neuropathol Commun. 2016 Sep 2;4(1):98. PubMed.
3. Jin SC, Carrasquillo MM, Benitez BA, Skorupa T, Carrell D, Patel D, Lincoln S, Krishnan S, Kachadoorian M, Reitz C, Mayeux R, Wingo TS, Lah JJ, Levey AI, Murrell J, Hendrie H, Foroud T, Graff-Radford NR, Goate AM, Cruchaga C, Ertekin-Taner N. 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