Mutations

TREM2 rs9357347

Overview

Pathogenicity: Alzheimer's Disease : Possible Risk Modifier
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr6:41150591 T>G
dbSNP ID: rs9357347
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Genomic Region: Intergenic - TREM locus

Findings

The rs9357347 SNP is located 6.9 kb downstream from TREML2 and 19.6 kb upstream from TREM2, within a DNAse hypersensitive site. In the International Genomics of Alzheimer's Project stage 1 meta-analysis, this SNP was associated with a nominally decreased risk of Alzheimer’s disease (odds ratio: 0.95, p = 0.0011) (Carasquillo et al., 2017).

Biological Effect

The rs9357347 SNP was associated with an approximately 6 percent increase in expression of TREM2 and TREML1 in temporal cortex, and was predicted to influence transcription factor binding (Carasquillo et al., 2017).

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. Carrasquillo MM, Allen M, Burgess JD, Wang X, Strickland SL, Aryal S, Siuda J, Kachadoorian ML, Medway C, Younkin CS, Nair A, Wang C, Chanana P, Serie D, Nguyen T, Lincoln S, Malphrus KG, Morgan K, Golde TE, Price ND, White CC, De Jager PL, Bennett DA, Asmann YW, Crook JE, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N. A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression. Alzheimers Dement. 2017 Jun;13(6):663-673. Epub 2016 Dec 8 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. Carrasquillo MM, Allen M, Burgess JD, Wang X, Strickland SL, Aryal S, Siuda J, Kachadoorian ML, Medway C, Younkin CS, Nair A, Wang C, Chanana P, Serie D, Nguyen T, Lincoln S, Malphrus KG, Morgan K, Golde TE, Price ND, White CC, De Jager PL, Bennett DA, Asmann YW, Crook JE, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N. A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression. Alzheimers Dement. 2017 Jun;13(6):663-673. Epub 2016 Dec 8 PubMed.

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