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Understanding rs287235: A Genetic Variant and Parkinson's Research

rs287235
Trait
Moderate evidence

The genetic variant rs287235 is a common single-nucleotide polymorphism located on chromosome 1. It has been the subject of scientific investigation regarding its potential association with the risk of developing late-onset Parkinson's disease.

What each genotype means

C/CLower attention

Common genetic variant

This genotype represents one of the common forms of this variant. Research into this specific location has explored its potential role in regulatory processes, though current evidence does not link this genotype to a specific clinical condition or trait with high certainty.

This is a common genotype found across diverse global populations.

C/GLower attention

Common genetic variant

This genotype represents a heterozygous state for this variant. While this site has been studied in the context of gene expression regulation, there is no definitive evidence suggesting this specific combination of alleles results in a distinct clinical phenotype.

This genotype is frequently observed in many populations worldwide.

G/GLower attention

Common genetic variant

This genotype represents the alternative common form of this variant. Scientific literature has investigated this region for its potential influence on tissue-specific gene expression, but it is not currently associated with any specific health outcomes or diagnostic traits.

This genotype is common and widely distributed across various ancestral groups.

What is rs287235?

A single-nucleotide polymorphism, or SNP, is a variation at a single position in a DNA sequence among individuals. The variant rs287235 is located on chromosome 1 at position 55,212,826 (GRCh38). This specific location places it within the region of the USP24 gene. In genomics, SNPs like rs287235 are often studied to determine if they correlate with specific physical traits or health conditions. Because this variant is common in the human population, researchers have utilized it in various genome-wide association studies to see if it acts as a marker for underlying biological processes. It is important to note that being a 'common' variant means it is found frequently across diverse ancestral groups, rather than being a rare mutation that causes a specific disease on its own.

The Role of the USP24 Gene

The variant rs287235 is associated with the USP24 gene, which encodes a protein known as Ubiquitin Specific Peptidase 24. This protein belongs to a family of enzymes that play a critical role in the ubiquitin-proteasome system, a cellular mechanism responsible for breaking down and recycling proteins. By removing ubiquitin molecules from target proteins, USP24 helps regulate protein stability and turnover within the cell. Because the accumulation of misfolded or damaged proteins is a hallmark of several neurodegenerative conditions, researchers have long been interested in genes that manage protein quality control. While the presence of rs287235 does not necessarily mean the USP24 protein is malfunctioning, scientists investigate whether such variants might influence the expression levels or efficiency of this important cellular maintenance system.

Research and Evidence Strength

The evidence linking rs287235 to health outcomes is considered moderate and primarily based on statistical associations observed in research studies. Specifically, some early research, such as studies published in the mid-2000s, suggested that the (G) allele of this SNP might be linked to a slightly increased risk of late-onset Parkinson's disease. However, genetic associations can be complex and sometimes vary between different ethnic populations. For instance, subsequent studies have looked at this variant in specific groups, such as the Han Chinese population, to see if the association holds true across different genetic backgrounds. It is crucial to understand that these findings represent statistical correlations rather than direct causation. Many factors, including environmental influences and other genetic markers, contribute to the development of complex conditions like Parkinson's disease, and a single SNP is rarely a definitive predictor of health.

Interpreting Your Genetic Information

When you encounter information about variants like rs287235, it is important to maintain a balanced perspective. Genetic data provides a snapshot of your biological blueprint, but it does not function as a medical diagnosis. Because the association between this variant and Parkinson's disease is based on population-level statistics, it cannot predict an individual's personal health outcome. You cannot 'do' anything to change your genotype, nor should you use this information to make medical decisions. If you are concerned about your risk for neurodegenerative conditions or have a family history of Parkinson's disease, the most effective step is to consult with a qualified healthcare provider or a genetic counselor. They can help you interpret your overall health profile, discuss appropriate screenings, and provide guidance based on your complete medical history rather than a single genetic marker.

How common is this variant?

The rs287235 variant is common, with a Global Minor Allele Frequency (GMAF) reported at approximately 0.26, meaning it is widely distributed across various global populations.

Frequently asked questions

Does having the G allele mean I will get Parkinson's disease?

No. The association between rs287235 and Parkinson's disease is based on statistical trends in large groups of people, not individual prediction. Most people with the G allele will never develop the condition.

Can I change my risk associated with this SNP?

You cannot change your genetic sequence. However, you can focus on general healthy lifestyle choices, such as regular exercise and a balanced diet, which are recommended for overall brain health.

Where can I find more information about my specific genetic results?

If you have received results from a direct-to-consumer testing company, consult their provided educational materials. For medical concerns, always speak with a doctor or a certified genetic counselor.

Is rs287235 the only gene involved in Parkinson's risk?

No. Parkinson's disease is a complex condition influenced by many different genes, as well as environmental and lifestyle factors. No single genetic variant is responsible for the disease.

Sources & further reading

Educational information only, last refreshed 10/4/2026. Not medical advice — these associations describe population statistics, not individual predictions.

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