CDKN2B-AS1 rs10965235: Understanding Genetic Associations
The rs10965235 variant is a single nucleotide polymorphism located within the CDKN2B-AS1 gene locus. Research has identified this variant as having a statistical association with the development of endometriosis in certain populations.
What each genotype means
Baseline endometriosis risk
This genotype represents the absence of the specific risk-associated allele identified in certain populations. Research indicates that individuals without the risk allele may have a lower statistical association with endometriosis development compared to carriers. Please note that endometriosis is a complex, multifactorial condition influenced by many genetic and environmental factors.
This genotype is common in European populations where the risk allele is rare or absent.
Increased endometriosis risk
Carrying one copy of this variant is associated with an increased statistical risk of developing endometriosis, particularly moderate-to-severe forms. This variant is located in the CDKN2B-AS1 gene, which is involved in regulating cell cycle progression. Because this is a complex trait, this result should not be used for diagnosis; discuss any health concerns with your physician.
This genotype is frequently observed in East Asian populations where the variant is common.
Elevated endometriosis risk
Carrying two copies of this variant is associated with a higher statistical risk of developing endometriosis compared to non-carriers. The association is particularly noted for moderate-to-severe disease stages, likely due to the variant's role in tissue remodeling and cell cycle regulation. This association is ancestry-specific and is not observed in populations where the variant is monomorphic.
This genotype is found in East Asian populations, with a minor allele frequency of approximately 0.35.
What is rs10965235?
The rs10965235 variant is a specific genetic change, or single nucleotide polymorphism (SNP), located on chromosome 9. In the human genome, SNPs represent positions where a single building block of DNA—a nucleotide—differs between individuals. This particular variant sits within the CDKN2B-AS1 gene, a region known for producing a long non-coding RNA molecule. Because this SNP is located in a non-coding region, it does not provide instructions for making a protein directly. Instead, scientists study such variants to understand how they might influence the activity of nearby genes. By analyzing large groups of people, researchers have identified that this specific position in the DNA sequence shows variation across the human population, making it a subject of interest for those studying the genetic architecture of complex traits and conditions.
The Role of CDKN2B-AS1
The CDKN2B-AS1 gene, also frequently referred to as ANRIL, produces a long non-coding RNA that acts as a regulator within the cell. This gene is situated in a critical region of the genome known as the INK4b/ARF/INK4a locus, which is essential for controlling the cell cycle, cellular senescence, and inflammation. By interacting with various proteins and epigenetic machinery, the RNA produced by CDKN2B-AS1 helps determine how and when cells divide or stop dividing. Because of these fundamental roles, the gene is involved in many biological processes, including tissue remodeling and the regulation of cell growth. When the expression or structure of this gene is altered, it can potentially impact how tissues respond to stress or injury, which is why researchers investigate this locus when studying conditions characterized by abnormal cell proliferation or inflammatory responses.
Research and Endometriosis
The primary research interest surrounding rs10965235 stems from its association with endometriosis, a condition where tissue similar to the lining of the uterus grows outside of it. Genome-wide association studies (GWAS) have identified this SNP as a susceptibility locus, meaning individuals carrying certain alleles may have a statistically higher likelihood of developing the condition compared to those who do not. For example, studies in Japanese and Korean populations have reported significant associations between this variant and endometriosis risk. It is important to note that the evidence for this association is considered limited in scope, as it may not be consistent across all global ancestries. Furthermore, while the statistical link is documented, the exact biological mechanism—how this specific DNA change leads to the clinical manifestation of endometriosis—remains an area of active scientific investigation, with researchers focusing on how it might influence local tissue remodeling.
Interpreting Your Genetic Information
Understanding a genetic variant like rs10965235 requires a balanced perspective on what genetic data can and cannot tell you. While research has identified a statistical association between this variant and endometriosis, having a specific genotype does not mean an individual will develop the condition, nor does the absence of the variant guarantee protection. Endometriosis is a complex, multifactorial condition influenced by a combination of genetic, environmental, and lifestyle factors. Genetic testing for such variants is generally used for research purposes to better understand disease mechanisms rather than for individual clinical diagnosis. If you have concerns about your health or symptoms related to endometriosis, it is essential to consult with a healthcare professional. They can provide a proper evaluation based on your medical history and clinical presentation, which are far more informative than any single genetic marker.
How common is this variant?
The minor allele frequency for rs10965235 is approximately 0.35 in European and Asian populations, indicating that the variant is relatively common.
Frequently asked questions
Does having the rs10965235 variant mean I have endometriosis?
No. This variant is associated with a statistical increase in risk in some populations, but it is not a diagnostic test for endometriosis. Many factors contribute to the development of the condition.
Can I use this information to prevent endometriosis?
There are no known preventative measures based specifically on this genetic variant. You should discuss any health concerns or symptoms with your doctor.
Why is this variant associated with different diseases?
The CDKN2B-AS1 gene is involved in fundamental cellular processes like cell cycle regulation. Because these processes are used throughout the body, variations in this gene can be linked to multiple different health conditions.
Is the association with endometriosis the same for everyone?
No. Genetic associations can vary significantly between different ancestral groups. The link between rs10965235 and endometriosis has been primarily studied in specific Asian populations.
Sources & further reading
Educational information only, last refreshed 10/9/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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