KDM5D rs2032622: Understanding This Y-Chromosome Marker
The variant rs2032622 is a single nucleotide polymorphism located on the human Y chromosome within the KDM5D gene. It is primarily recognized as a genetic marker used by researchers to distinguish specific sub-clades within the R1a1a Y-DNA haplogroup.
What each genotype means
Ancestral Y-chromosome marker
This genotype represents the ancestral allele for this specific Y-chromosome position. It is used by researchers to help identify specific paternal lineages and is not associated with a clinical condition.
This allele is found in male lineages that do not carry the derived T mutation associated with specific R1a1a sub-clades.
Derived Y-chromosome marker
This genotype is a derived mutation on the Y chromosome used as a marker to distinguish specific sub-clades within the R1a1a haplogroup. It is a tool for genealogical and population genetics research and does not indicate a medical diagnosis.
This allele is specific to male lineages and is used to identify individuals belonging to certain branches of the R1a1a haplogroup.
What is rs2032622?
The variant rs2032622 is a specific change in the DNA sequence located on the Y chromosome at position 19,711,000 (GRCh38). In the context of human genetics, SNPs like rs2032622 serve as signposts for ancestry. Because the Y chromosome is passed from father to son with very little recombination, these markers are highly stable over generations. Researchers use this specific SNP to categorize male lineages, specifically helping to identify and differentiate sub-clades within the R1a1a haplogroup. It is important to note that this variant is a tool for population genetics and genealogical research rather than a marker for a specific health condition or physical trait.
The Role of the KDM5D Gene
The rs2032622 variant sits within the KDM5D gene, which encodes a histone demethylase. This protein plays a critical role in epigenetic regulation by removing methyl groups from histone H3 lysine 4, a process that influences how genes are turned on or off. Because it is located on the Y chromosome, KDM5D is expressed exclusively in males. Scientific research has investigated the function of KDM5D in various biological contexts, including its role in spermatogenesis and its potential function as a tumor suppressor in certain cancers. By modifying chromatin structure, KDM5D helps regulate sex-biased gene expression, contributing to the biological differences observed between males and females at the cellular level.
Research and Evidence Strength
The evidence linking rs2032622 to specific health outcomes is currently limited. While the KDM5D gene itself is the subject of active research regarding its role in cancer biology—such as its potential involvement in prostate or gastric cancer pathways—rs2032622 is primarily documented as a phylogenetic marker. Most published literature regarding this specific SNP focuses on its utility in mapping human migration patterns and defining Y-chromosome haplogroups. There is no robust evidence in the GWAS Catalog or clinical databases suggesting that this specific SNP acts as a functional variant that directly causes disease. Consequently, it is categorized as a trait-related marker for ancestry rather than a clinical diagnostic tool.
Population Frequency
As a Y-chromosome marker, rs2032622 is found only in males. Its frequency is highly dependent on the specific ancestral population being studied, as it is tied to the distribution of the R1a1a haplogroup. This haplogroup is found at varying frequencies across different geographic regions, particularly in parts of Eurasia. Because it is a lineage-specific marker, it is not distributed evenly across the global male population. Individuals interested in their own status for this variant typically obtain this information through commercial genetic ancestry testing services, which analyze Y-DNA to determine paternal lineage. It is not a variant that is routinely tested in a clinical or medical setting.
What This Information Means for You
If you have identified your genotype for rs2032622, it is important to understand that this information is primarily for genealogical interest. It provides insight into your paternal ancestry by helping to place your lineage within the R1a1a haplogroup tree. This variant does not provide information about your health, disease risk, or medication response. Because the evidence for this SNP is limited to its role as an ancestral marker, it should not be used to make medical decisions or health assumptions. If you have concerns about your health or family history, always consult with a qualified healthcare professional or a genetic counselor who can provide context based on your overall clinical picture rather than a single genetic marker.
How common is this variant?
This variant is specific to male lineages and its frequency varies significantly based on the prevalence of the R1a1a haplogroup within specific ancestral populations.
Frequently asked questions
Is rs2032622 associated with any diseases?
No, rs2032622 is primarily used as a marker for paternal ancestry and haplogroup classification. There is no current evidence linking this specific SNP to the development of any disease.
Can I use this SNP to predict my health risks?
No. This variant is a tool for genealogical research and does not provide information about your health, disease susceptibility, or physical traits.
Why is this variant only found in men?
The rs2032622 variant is located on the Y chromosome. Since the Y chromosome is typically only present in biological males, this marker is exclusive to male lineages.
What is the R1a1a haplogroup?
Haplogroup R1a1a is a major Y-chromosome lineage found in many populations across Eurasia. It is used by geneticists to trace paternal migration patterns throughout human history.
Sources & further reading
Educational information only, last refreshed 9/20/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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