TREM2 rs75932628: What Your Genotype Means
The rs75932628 variant is a rare genetic change located in the TREM2 gene. It is widely studied for its significant association with an increased risk of developing late-onset Alzheimer’s disease.
What each genotype means
Typical TREM2 profile
This is the most common genotype for this variant. It does not carry the specific genetic change associated with the increased risk of Alzheimer's disease described in research for this location.
This is the predominant genotype found in the vast majority of the global population.
Increased Alzheimer's risk
This genotype contains one copy of the T allele, also known as the R47H variant. Research indicates that carriers of this variant have a significantly increased risk of developing Alzheimer's disease, potentially due to impaired inflammatory regulation in the brain. Please discuss any concerns regarding cognitive health or family history with your healthcare provider.
This genotype is rare, typically found in less than 0.5% to 1% of individuals in most studied populations.
Elevated Alzheimer's risk
This genotype contains two copies of the T allele, also known as the R47H variant. While research primarily focuses on the increased risk associated with carrying at least one copy, this genotype is extremely rare in the general population. Please consult with a medical professional or genetic counselor to discuss what this means for your personal health profile.
This genotype is extremely rare and is seldom observed in standard population-based research cohorts.
Understanding the rs75932628 Variant
The rs75932628 variant is a single nucleotide polymorphism (SNP) located within the TREM2 gene on chromosome 6. In genetic terms, this variant is often referred to as the R47H mutation because it results in an amino acid substitution where arginine is replaced by histidine at position 47 of the protein. Because this change occurs in the coding region of the gene, it can alter the structure and function of the resulting protein. This specific variant is considered rare in the general population, meaning it is not found in the vast majority of individuals. Researchers identify this variant by analyzing DNA sequences to see if an individual carries the common cytosine (C) base or the less common thymine (T) base at this specific position. Understanding the location and nature of this SNP is a foundational step in investigating how specific genetic changes contribute to complex neurological conditions.
The Role of the TREM2 Gene
The TREM2 gene provides instructions for making a protein called the triggering receptor expressed on myeloid cells 2. This protein is primarily found on the surface of microglia, which are specialized immune cells residing in the brain. Microglia act as the brain's primary defense system, responsible for clearing out cellular debris, managing inflammation, and supporting overall neuronal health. When the TREM2 protein functions correctly, it helps these immune cells recognize and respond to damage or toxic protein buildup. Research suggests that the R47H substitution caused by the rs75932628 variant may impair the ability of microglia to effectively contain inflammatory processes or clear harmful deposits associated with neurodegeneration. By studying how this variant affects microglial behavior, scientists hope to better understand the biological pathways that lead to cognitive decline and identify potential targets for future therapeutic interventions.
Research and Alzheimer’s Disease Association
Since its discovery in 2013, the rs75932628 variant has been the subject of extensive research. Multiple large-scale studies have consistently identified a strong statistical association between the presence of the T allele and an increased risk of late-onset Alzheimer’s disease. Some studies have reported odds ratios suggesting that carriers of this variant face a risk increase comparable to that of the well-known APOE ε4 allele. However, it is important to note that while the association is statistically significant, the evidence can vary across different study populations and cohorts. Some research has indicated that the effect size may be more modest in certain groups, and the role of this variant in other neurodegenerative conditions remains a subject of ongoing investigation. Because this is a rare variant, researchers often require very large sample sizes to confirm these associations, and findings continue to evolve as more diverse populations are included in genetic studies.
Interpreting Your Genetic Information
If you have received information about your status for the rs75932628 variant, it is essential to understand that genetic risk is not a medical diagnosis. Carrying a risk-associated variant does not mean an individual will inevitably develop Alzheimer’s disease, nor does the absence of the variant guarantee protection. Alzheimer’s is a complex, multifactorial condition influenced by a combination of genetics, lifestyle, and environmental factors. This information is primarily used in research settings to understand disease mechanisms rather than for clinical screening or predictive testing. If you have concerns about your cognitive health or family history, the most appropriate step is to consult with a healthcare professional or a genetic counselor. They can provide context based on your personal health history and help you navigate the complexities of genetic testing. Never use genetic data to make independent medical decisions or to alter your health management without professional guidance.
How common is this variant?
The rs75932628 variant is rare, with a global minor allele frequency typically reported at less than 0.5%.
Frequently asked questions
Does having the rs75932628 variant mean I will get Alzheimer's?
No, having this variant does not mean you will develop Alzheimer's disease. It is considered a risk factor, meaning it may increase the statistical likelihood of developing the condition, but it is not a deterministic cause.
How common is the rs75932628 variant?
The variant is quite rare, appearing in less than 0.5% of the general population. Because it is so uncommon, it is not typically included in standard, broad-spectrum genetic screening panels.
What should I do if I know I have this variant?
If you are aware you carry this variant, you should discuss it with a healthcare provider or a genetic counselor. They can help you understand what this means in the context of your overall health and family history.
Is there a test to see if I have this variant?
Yes, this variant can be identified through specific genetic testing. However, because it is not a diagnostic test for Alzheimer's disease, it is generally not recommended for routine clinical use.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs75932628?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in TREM2
A recently annotated (2024) rare variant in TREM2 that increases the risk for Alzheimer's disease in specific sub-populations.
A rare but potent variant that significantly increases the risk of developing late-onset Alzheimer’s disease.
The p.R62H variant in the TREM2 gene is significantly associated with an increased risk of developing Alzheimer's disease.