ABCA1 rs10785317: What Your Genotype Means
The rs10785317 variant is a genetic marker located near the ABCA1 gene, which plays a critical role in lipid transport. Research has investigated its potential association with primary open-angle glaucoma, a condition that can lead to irreversible vision loss.
What each genotype means
Typical glaucoma risk
You carry two copies of the common C allele at rs10785317 in the ABCA1 locus. Genome-wide association studies link this baseline genotype with typical population risk for primary open-angle glaucoma and normal local retinal cholesterol transport. Because overall disease risk is shaped by many genes and lifestyle factors, regular eye checkups remain standard care.
Carried by roughly 40% to 55% of individuals in European and East Asian populations.
Slightly increased glaucoma risk
You carry one copy of the T risk allele at rs10785317 near the ABCA1 gene. Published genetic association studies indicate this allele is tied to a modest statistical increase in susceptibility to primary open-angle glaucoma, potentially through subtle effects on lipid transport in retinal tissues. This variant only confers a small change in relative risk and does not determine whether glaucoma will develop.
Carried by approximately 35% to 45% of individuals of European and East Asian ancestry.
Moderately elevated glaucoma risk
You carry two copies of the T risk allele at rs10785317 within the ABCA1 region. Population-level research associates homozygous T carriage with an elevated relative risk of primary open-angle glaucoma compared to non-carriers. Given that glaucoma is a complex condition influenced by intraocular pressure, age, and diverse genetic factors, standard comprehensive optometric or ophthalmologic exams are recommended.
Carried by approximately 5% to 12% of individuals across European and East Asian cohorts.
Understanding the rs10785317 Variant
The rs10785317 variant is a single nucleotide polymorphism (SNP) located in an intergenic region near the ABCA1 gene. In genetics, an intergenic variant sits in the DNA sequence between genes rather than within the protein-coding portion of a gene itself. While it does not directly alter the structure of a protein, such variants can influence how nearby genes are regulated or expressed. Scientists study these markers to understand how subtle differences in our DNA sequence might contribute to complex health conditions. Because this variant is located in a region associated with the ABCA1 gene, researchers have focused on its potential role in ocular health and the maintenance of tissues within the eye.
The Role of the ABCA1 Gene
The ABCA1 gene provides instructions for creating a protein known as the ATP-binding cassette transporter A1. This protein is essential for the body's ability to manage cholesterol and phospholipids, acting as a pump that moves these fats out of cells to form high-density lipoprotein (HDL), often called 'good' cholesterol. Beyond its systemic role in cardiovascular health, ABCA1 is expressed in various ocular tissues, including the retina, optic nerve, and trabecular meshwork. Proper lipid transport is vital for the health of these structures, as it helps maintain cellular function and fluid balance. Disruptions in these pathways are hypothesized to contribute to the development of eye diseases, making the ABCA1 locus a frequent subject of investigation in ophthalmological research.
Research and Glaucoma Associations
Primary open-angle glaucoma (POAG) is a leading cause of blindness characterized by damage to the optic nerve. Genome-wide association studies (GWAS) have identified the ABCA1 locus as a region of interest for POAG susceptibility. While some studies have found statistical associations between variants in this region and glaucoma risk, the evidence remains limited and sometimes conflicting across different populations. For instance, meta-analyses have noted that while certain ABCA1 variants show significant associations in Asian cohorts, these findings are not always replicated in Caucasian or mixed-ancestry populations. This suggests that the genetic architecture of glaucoma is complex and likely influenced by a combination of genetic background, environmental factors, and other unidentified variables. It is important to view these statistical associations as indicators of risk rather than definitive diagnostic tools.
Population Frequency and Diversity
Genetic variants like rs10785317 are common across many human populations, with the variant allele appearing in approximately 25% to 35% of individuals in European and East Asian cohorts. Because this variant is relatively common, it is considered a 'polymorphism' rather than a rare mutation. However, the frequency and the clinical impact of such variants can vary significantly depending on ancestral background. Researchers emphasize that findings from one population cannot always be generalized to others. The study of diverse cohorts is essential to determine whether a specific genetic marker consistently influences disease risk globally or if its effects are restricted to specific ancestral groups. Understanding these frequency differences helps scientists refine risk models and improve the accuracy of genetic research.
Interpreting Your Genetic Information
If you have access to your genetic data, it is important to understand that a single SNP like rs10785317 provides only a tiny fraction of the information regarding your overall health. Genetic associations are statistical in nature and do not predict the development of a disease with certainty. Many factors, including lifestyle, age, and other genetic markers, play a much larger role in eye health. You cannot use this information to diagnose yourself or predict your future vision. If you are concerned about glaucoma or other eye conditions, the most effective step is to schedule a comprehensive eye examination with an optometrist or ophthalmologist. They can perform clinical tests that are far more accurate for assessing your current eye health than any genetic report. Always consult with a healthcare professional before making decisions based on genetic testing results.
How common is this variant?
The rs10785317 variant is a common polymorphism, with the variant allele present in approximately 25% to 35% of individuals within European and East Asian populations.
Frequently asked questions
Does having the rs10785317 variant mean I will get glaucoma?
No. This variant is only one of many factors that may influence glaucoma risk. Most people with this variant will never develop the condition, and many people without it do.
Can I use this genetic information to prevent eye disease?
Genetic information is not a substitute for clinical care. The best way to maintain eye health is through regular comprehensive eye exams and following the advice of your eye care professional.
Why do studies show different results for this variant?
Genetic associations often vary between populations due to differences in ancestral backgrounds and environmental factors. What is observed in one group may not be replicated in another.
Is this variant related to my cholesterol levels?
While the ABCA1 gene is involved in cholesterol transport, this specific intergenic variant is primarily studied for its potential link to glaucoma. It is not a standard marker for assessing systemic cholesterol levels.
Sources & further reading
Educational information only, last refreshed 10/19/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs10785317?
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 ABCA1
This variant in the ABCA1 gene is used in candidate gene studies to examine gene-diet interactions regarding LDL cholesterol response.
This variant in the ABCA1 locus is associated with the regulation of cholesterol efflux and the formation of nascent high-density lipoprotein (HDL) particles.
Identified as a regulatory SNP influencing metabolic traits in Indigenous American populations.
This variant upstream of ABCA1 influences ocular lipid homeostasis and correlates with elevated intraocular pressure and cup area.