{{Rsnum
|rsid=75932628
|Gene=TREM2
|Chromosome=6
|position=41161514
|Orientation=plus
|GMAF=0.002755
|Gene_s=TREM2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}[[rs75932628]](T), a SNP in the [[TREM2]] gene on chromosome 6 resulting in an R47H substitution, was found to confer a significantly higher risk of [[Alzheimer's disease]] based on two articles published together in the New Engl. J. of Med.

In one study, the odds ratio for [[rs75932628]](T) was 2.9 (CI: 2.09 to 4.09, P=3.42×10−10). The mutation had a frequency of 0.46% in controls 85 years of age or older. The authors also observed the association in additional sample sets (odds ratio, 2.90; 95% CI, 2.16 to 3.91; P=2.1×10−12 in combined discovery and replication samples), and found that carriers of rs75932628-T between the ages of 80 and 100 years without Alzheimer's disease had poorer cognitive function than noncarriers (P=0.003).{{doi|10.1056/NEJMoa1211103}}

In the other study, analysis of the [[rs75932628]](T) in a series that included 1887 patients with [[Alzheimer's disease]] showed a strong, highly significant association (odds ratio, 5.05, CI: 2.77 to 9.16; P=9.0×10−9). Four other [[TREM2]] gene variants (D87N, T66M, Y38C, and Q33X) were also associated with higher risk for a frontotemporal dementia–like syndrome when homozygous.{{doi|10.1056/NEJMoa1211851}}
{{PMID Auto
|PMID=23150934
|Title=TREM2 Variants in Alzheimer's Disease
|OA=1
}}
{{PMID Auto
|PMID=23150908
|Title=Variant of TREM2 Associated with the Risk of Alzheimer's Disease
|OA=1
}}
{{PMID Auto
|PMID=23391427
|Title=TREM2 is associated with the risk of Alzheimer's disease in Spanish population
}}
{{PMID Auto
|PMID=23800361
|Title=TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease
|OA=1
}}
{{PMID Auto
|PMID=24041969
|Title=Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia
}}
{{PMID Auto
|PMID=24602511
|Title=Triggering receptor expressed on myeloid cells 2 variants are rare in Parkinson's disease in a Han Chinese cohort
}}{{PMID Auto
|PMID=23380991
|Title=TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.
}}

{{PMID Auto
|PMID=23510020
|Title=Have we learnt all we need to know from genetic studies - is genetics over in Alzheimer's disease?
|OA=1
}}

{{PMID Auto
|PMID=23855982
|Title=Assessment of TREM2 rs75932628 association with Alzheimer's disease in a population-based sample: the Cache County Study.
}}
{{PMID Auto
|PMID=25027412
|Title=Frontobasal gray matter loss is associated with the TREM2 p.R47H variant
}}