PLA2R1 rs2715926: What Your Genotype Means
The genetic variant rs2715926 is an intronic single-nucleotide polymorphism located within the PLA2R1 gene on chromosome 2. Recent multi-ancestry genome-wide association research has linked this variant to statistical variations in the likelihood of strabismus, a condition characterized by misaligned eyes. While associated with ocular alignment patterns in specific ancestral groups, it represents an indirect statistical risk marker rather than a definitive diagnostic test.
What each genotype means
Typical ocular alignment risk
You carry two copies of the C allele, which is the baseline and most frequent version of this marker across global populations. Large diversity-based genomic studies have not linked this specific genotype to an increased risk of strabismus. It represents standard population risk for ocular misalignments at this particular locus.
Carried by approximately 89% to 90% of individuals of African ancestry and over 99% of European and Admixed American populations.
Moderately elevated strabismus risk
You carry one copy of the T allele in the PLA2R1 intron, which has been identified in diversity genome-wide association studies as associated with strabismus. This association reached genome-wide significance primarily within cohorts of African ancestry, indicating a moderately increased statistical likelihood of strabismus compared to the baseline genotype. Because this variant is intronic and complex vision traits involve many contributing factors, carrying this allele does not diagnose or guarantee eye misalignment.
Found in roughly 10% of individuals of African ancestry, but rare in Admixed American (~1%) and European (<0.1%) populations.
Elevated strabismus risk
You carry two copies of the strabismus-associated T allele in the PLA2R1 locus. Population research indicates that carrying this variant correlates with a statistically higher risk of strabismus, notably discovered in individuals of African ancestry. This genetic finding describes an elevated population-level predisposition rather than a direct clinical diagnosis.
Present in roughly 0.3% of individuals of African ancestry and exceptionally rare across other continental populations.
Genomic Location and Variant Characteristics
The single nucleotide polymorphism rs2715926 is positioned within intron 1 of the phospholipase A2 receptor 1 (PLA2R1) gene on human chromosome 2. Because it resides in an intronic non-coding sequence, the variant does not directly alter the protein-coding sequence of PLA2R1. Instead, intronic variants often operate as regulatory signals that influence transcription efficiency, pre-mRNA alternative splicing, or chromatin structure. In many genome-wide discovery contexts, intronic SNPs also serve as statistical proxies for nearby causal variants due to linkage disequilibrium, reflecting ancestral patterns of inherited chromosomal blocks across generations.
Biological Role of the PLA2R1 Gene
The PLA2R1 gene provides biological instructions for producing the M-type phospholipase A2 receptor 1. This transmembrane protein belongs to the mannose receptor family and functions as a clearance and signaling receptor for secretory phospholipase A2 enzymes. PLA2R1 participates in crucial physiological processes including extracellular matrix organization, cell adhesion, cell senescence, and receptor-mediated endocytosis. While best known clinically as a major target antigen in autoimmune kidney disorders such as idiopathic membranous nephropathy, PLA2R1 is expressed across multiple human tissues where membrane remodeling and cellular coordination occur.
Research Associations with Strabismus
Recent multi-ancestry research from the All of Us Research Program identified rs2715926 as one of three significant SNPs located in intron 1 of PLA2R1 linked to strabismus. Strabismus involves an ocular misalignment where the eyes cannot focus concurrently on the same visual target, typically arising from complex interactions between neuromuscular coordination and extraocular muscle mechanics. The evidence linking rs2715926 to ocular alignment is currently rated as moderate. The statistical signal was demonstrated specifically in individuals of African ancestry, underscoring the importance of diverse cohort genetics while highlighting the need for ongoing functional replication.
Population Frequency and Diversity Findings
Population genetics data demonstrate that rs2715926 exhibits distinct frequency patterns across global lineages. In large genomic databases like gnomAD and diverse cohorts including the All of Us dataset, rs2715926 has a minor allele frequency exceeding 1% (MAF > 0.01) in African ancestry populations. In contrast, it may show differing distribution frequencies or linkage architectures in European or Admixed American cohorts. These ancestry-specific nuances emphasize that genetic background profoundly influences whether particular genomic markers correlate with specific anatomical and clinical outcomes.
Clinical Utility and Practical Interpretation
Genotype status at rs2715926 should be viewed strictly through an educational lens and cannot be used to diagnose or predict the onset of strabismus. Strabismus is a multifactorial trait influenced by polygenic architecture, neurodevelopmental factors, refractive errors, and environmental inputs. Carrying an associated allele does not guarantee eye misalignment, nor does carrying the reference genotype ensure perfect binocular vision. Anyone concerned about ocular alignment, stereoscopic vision, or visual health should seek comprehensive evaluation from an optometrist or ophthalmologist.
How common is this variant?
The variant rs2715926 maintains a minor allele frequency greater than 0.01 (1%) in African ancestry cohorts, while showing variable frequencies and linkage structures across other ancestral populations.
Frequently asked questions
Does having the rs2715926 variant mean I will develop crossed eyes?
No. The rs2715926 variant is only a statistical association found in population-level studies, not a deterministic cause. Most individuals carrying risk-associated alleles never experience strabismus because eye development depends on complex environmental and polygenic factors.
What is the function of the PLA2R1 gene in ocular health?
PLA2R1 encodes a membrane receptor involved in cellular clearance and extracellular matrix pathways. Although its precise molecular mechanisms in eye development remain under active investigation, researchers hypothesize it may influence the neuromuscular or structural architecture of extraocular muscle tissues.
Why is the association between rs2715926 and strabismus ancestry-specific?
Different ancestral populations possess unique linkage disequilibrium architectures and genetic backgrounds. Because rs2715926 was identified as statistically significant in African ancestry cohorts within the All of Us dataset, its correlation with strabismus may rely on underlying variants that differ in frequency across other ancestries.
Can an at-home DNA test use rs2715926 to screen for vision problems?
Direct-to-consumer genetic screening cannot reliably assess strabismus risk using this single marker. Routine eye examinations conducted by an eye care professional remain the sole established method to screen, identify, and manage childhood or adult strabismus.
Sources & further reading
Educational information only, last refreshed 9/12/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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