rs3747742

This is a protein-altering variant in the TREML2 gene.

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Research that mentions this SNP (1)

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Extreme cerebrospinal fluid amyloid β levels identify family with late‐onset Alzheimer's disease presenilin 1 mutation
ReviewJohn S. K. Kauwe et al.(2007)· Annals of Neurology

A review of genetic discoveries in Alzheimer's disease using cerebrospinal fluid (CSF) levels of amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau181) as endophenotypes. The paper discusses multiple GWAS and sequencing studies that identified novel AD risk variants including rs9877502 (3q28, p=4.89×10⁻⁹), rs514716 in GLIS3 (p=1.07×10⁻⁸), and rs6922617 in TREM cluster (p=3.58×10⁻⁸), as well as functional characterization of known AD variants including APOE, MAPT, and TREM2. The review emphasizes the increased statistical power of using quantitative CSF biomarkers compared to traditional case-control designs.

Traits studied:AD progression rateAlzheimer's diseaseAmyloid depositionCerebrospinal fluid amyloid-beta 42 levelsCerebrospinal fluid phosphorylated tau (pTau181) levelsCerebrospinal fluid tau levelsCognitive declineTau pathology
PubMedDOIMetascience Observatory

About TREML2

TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]

View all TREML2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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