Mutations
TREM2 rs9357347
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Overview
Pathogenicity: Alzheimer's Disease : Possible Risk Modifier
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr6:41182853 T>G
Position: (GRCh37/hg19):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
References
Paper Citations
- 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
- 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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