CELF1 rs7120548: Understanding the Alzheimer's Disease Association
The genetic variant rs7120548 is a single nucleotide polymorphism located within the CELF1 locus. Research indicates this variant is associated with altered expression of the MTCH2 gene and has been linked to the risk of developing late-onset Alzheimer's disease.
What each genotype means
Baseline genetic profile
This genotype represents the baseline state for this variant in the CELF1 region. Current research indicates that this variant is associated with altered MTCH2 expression and potential risk for late-onset Alzheimer's disease, though the specific impact of this individual genotype remains a subject of ongoing study. Please consult with a healthcare professional to discuss how genetic factors may relate to your overall health profile.
The exact frequency of this genotype is currently unknown across major ancestral populations.
Potential risk-associated profile
This genotype includes one copy of the variant associated with altered MTCH2 expression and late-onset Alzheimer's disease risk. Because this is a complex trait influenced by many genetic and environmental factors, this result does not provide a clinical diagnosis. You should discuss any concerns regarding your long-term brain health with a qualified clinician.
The exact frequency of this genotype is currently unknown across major ancestral populations.
Potential risk-associated profile
This genotype includes two copies of the variant associated with altered MTCH2 expression and late-onset Alzheimer's disease risk. While this variant is linked to disease mechanisms in research studies, it is not a diagnostic test for Alzheimer's disease. Please consult with a healthcare professional to discuss your health history and any relevant risk factors.
The exact frequency of this genotype is currently unknown across major ancestral populations.
What is rs7120548?
A single nucleotide polymorphism, or SNP, is a variation at a single position in a DNA sequence among individuals. The variant rs7120548 is located in a gene-dense region of the human genome associated with the CELF1 gene. Because this SNP resides in a region with large linkage disequilibrium blocks—where groups of genetic markers are often inherited together—it can be challenging for researchers to pinpoint exactly which gene is being functionally modified. However, scientific studies have focused on this specific location to better understand the genetic architecture of complex traits. By analyzing how this variant correlates with biological processes, researchers aim to bridge the gap between inherited DNA sequences and the development of specific health conditions, such as neurodegenerative disorders.
The Role of CELF1 and MTCH2
The CELF1 gene, also known as CUGBP Elav-Like Family Member 1, plays a critical role in post-transcriptional regulation, including the splicing of RNA. Research has identified that the variant rs7120548 is significantly associated with the expression levels of the nearby MTCH2 gene. MTCH2, or Mitochondrial Carrier 2, is involved in mitochondrial function and has been implicated in various metabolic and neurodegenerative processes. Studies have shown that the expression of genes within the CELF1 locus, including MTCH2, are highly correlated and appear to be associated with Alzheimer's disease status. By influencing how these genes are expressed in brain tissue, particularly in cells like microglia, this genetic variant may contribute to the underlying biological pathways that influence susceptibility to late-onset Alzheimer's disease.
Evidence and Research Context
The evidence linking rs7120548 to Alzheimer's disease is considered moderate and is primarily derived from expression quantitative trait loci (eQTL) studies. These studies demonstrate that the variant acts as a regulatory switch, influencing the amount of MTCH2 protein produced in the brain. While the association between this SNP and Alzheimer's risk has been replicated in datasets such as the UKBEC, it is important to note that genetic associations are statistical in nature. They indicate a correlation across large populations rather than a direct cause-and-effect relationship for any single individual. Current research continues to investigate how these regulatory effects manifest in different brain regions and how they interact with other genetic and environmental factors to influence disease risk.
Population Frequency
Specific population frequency data for the rs7120548 variant is currently limited in public databases. As a result, the prevalence of the different genotypes across various global ancestries remains unknown.
Interpreting Genetic Information
It is essential to understand that genetic variants like rs7120548 represent only one piece of a very complex puzzle. Alzheimer's disease is a multifactorial condition influenced by a combination of genetics, lifestyle, and environmental factors. Having a specific genotype at this location does not mean an individual will or will not develop a disease. This information is intended for educational purposes to help the public understand the ongoing research into the genetic basis of health. If you have concerns about your health or family history, it is important to consult with a qualified healthcare professional or a genetic counselor. They can provide personalized guidance based on your complete medical history and clinical context, rather than relying on individual genetic markers.
How common is this variant?
Specific population frequency data for the rs7120548 variant is currently limited in public databases, and the prevalence of its genotypes across ancestries remains unknown.
Frequently asked questions
Does rs7120548 cause Alzheimer's disease?
No, rs7120548 does not cause Alzheimer's disease. It is a genetic variant associated with a statistical increase in risk, meaning it is one of many factors that may contribute to the likelihood of developing the condition.
What is the relationship between CELF1 and MTCH2?
The CELF1 locus contains the MTCH2 gene. Research has shown that the variant rs7120548, located in this region, acts as an eQTL, meaning it influences the expression levels of the MTCH2 gene.
Can I use this information to predict my risk of Alzheimer's?
No, you cannot use this information to predict your personal risk. Genetic associations are based on population-level data and do not account for the complex interplay of other genes, lifestyle, and environment that determine individual health outcomes.
Where can I find more information on Alzheimer's genetics?
You can explore resources like MedlinePlus Genetics or the NIAGADS Alzheimer's Disease Variant Portal for reliable, research-backed information on the genetic factors associated with Alzheimer's disease.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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