WRB rs2244352: Genetic Associations with Esotropia
The genetic variant rs2244352 is located within the WRB gene and has been identified by genome-wide association studies as a susceptibility locus for nonaccommodative esotropia. This variant is a common genetic marker that researchers use to better understand the biological mechanisms underlying this form of eye misalignment.
What each genotype means
Lower esotropia risk
This genotype is associated with a lower statistical risk for nonaccommodative esotropia compared to those carrying the T allele. Research suggests this variant may influence the expression of the WRB gene, though this is a complex trait influenced by multiple factors.
This is a common variant found in populations of European ancestry.
Increased esotropia risk
Carrying one copy of the T allele is associated with an increased statistical risk for nonaccommodative esotropia. Studies indicate this variant may affect the expression of the WRB and LCA5L genes, though the clinical significance for an individual remains a matter of statistical association rather than a direct diagnosis.
This is a common variant found in populations of European ancestry.
Higher esotropia risk
Carrying two copies of the T allele is associated with a higher statistical risk for nonaccommodative esotropia. Research has linked this allele to increased expression of the WRB and LCA5L genes, and some studies suggest a potential parent-of-origin effect regarding inheritance patterns.
This is a common variant found in populations of European ancestry.
What is rs2244352?
The variant rs2244352 is a single nucleotide polymorphism (SNP) situated within the first intron of the WRB (tryptophan rich basic protein) gene on chromosome 21. Introns are non-coding regions of a gene that are removed during the process of creating a protein, but they can still play critical roles in regulating gene expression. By residing in this location, rs2244352 is a subject of interest for researchers investigating how genetic variations influence the development of the visual system. Because it is a common variant, it has been extensively studied in large cohorts to determine its statistical relationship with various eye conditions. Understanding its location helps scientists map the genetic architecture of complex traits like strabismus, where the eyes do not align properly.
Research and Associations
Research, including genome-wide association studies (GWAS), has established a significant association between rs2244352 and nonaccommodative esotropia, a condition where the eyes turn inward. Studies have shown that the T allele of this variant is associated with an increased risk for this condition. The evidence for this association is considered moderate, supported by meta-analyses of discovery and replication cohorts in populations of European ancestry. Some research also suggests that this variant may be differentially methylated and could exhibit a parent-of-origin effect, meaning the risk might be influenced by which parent passed the variant to the child. While these findings provide valuable insights into the pathophysiology of comitant strabismus, they represent statistical probabilities rather than a guarantee of developing the condition.
Understanding Your Results
It is important to emphasize that genetic associations like those found for rs2244352 are tools for scientific research and do not constitute a medical diagnosis. Having a specific genotype for this variant does not mean an individual will develop esotropia, nor does the absence of it guarantee perfect eye alignment. Esotropia is a complex condition influenced by many genetic and environmental factors. This information should never be used to make medical decisions or to self-diagnose. If you or a family member have concerns regarding eye alignment or vision, it is essential to consult with an ophthalmologist or a qualified eye care professional. They can provide a proper clinical evaluation and discuss appropriate management options based on individual health needs, rather than relying on genetic data alone.
How common is this variant?
The variant rs2244352 is considered common across various populations, particularly in those of European ancestry where it has been most studied.
Frequently asked questions
What is nonaccommodative esotropia?
Nonaccommodative esotropia is a type of strabismus where the eyes turn inward, and the misalignment is not primarily caused by the eye's focusing mechanism. It is a complex condition that often requires professional evaluation by an eye specialist.
Does having the T allele mean I will have eye problems?
No, having the T allele does not mean you will have eye problems. It is a statistical risk factor identified in large studies, not a direct cause of the condition.
What does the WRB gene do?
The WRB gene encodes the tryptophan rich basic protein, which is involved in cellular processes such as protein insertion into membranes. Researchers study its role in the context of eye development.
Should I get my eyes checked if I have this variant?
Everyone should have regular eye exams regardless of their genetic profile. If you have concerns about your vision or eye alignment, consult an ophthalmologist for a professional assessment.
Sources & further reading
Educational information only, last refreshed 11/4/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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