rs143332484

This is a variant in the TREM2 gene that changes a arginine to an histidine.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 1.30
p 2.0e-96
N 10,708
Large GWAS
European
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele T
OR 1.25
p 1.0e-25
N 2,721
Large GWAS
European

Alzheimer disease

Bellenguez C et al. “New insights into the genetic etiology of Alzheimer's disease and related dementias.” Nature Genetics 54(4):412-436 (2022)
Allele T
OR 1.41
p 3.0e-25
N 487,511
Large GWAS
European
Dalmasso MC et al. “The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 20(2):1298-1308 (2024)
Allele T
OR 1.40
p 4.0e-19
N 488,904
Large GWAS
multi-ancestry

trem-like transcript 2 protein measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.24
p 4.0e-19
N 47,745
Large GWAS
European

late-onset Alzheimers disease

Sims R et al. “Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.” Nature Genetics 49(9):1373-1384 (2017)
Allele T
OR 1.67
p 2.0e-14
N 34,174
Large GWAS
European

Alzheimer disease, family history of Alzheimer’s disease

Jansen IE et al. “Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.” Nature Genetics 51(3):404-413 (2019)
Allele T
OR 5.54
p 3.0e-8
N 455,258
Meta-analysisLarge GWAS
European
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ClinVar annotation

Likely Benign★★★☆
9 submitters6 publications

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (PLOSL1); not specified

View on ClinVar →

About TREM2

This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

View all TREM2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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