ENO4 rs139862664: What Your Genotype Means
The rs139862664 variant is a rare genetic change located in the ENO4 gene. It has been identified in research as a potential factor associated with male infertility, specifically involving issues with sperm motility and morphology.
What each genotype means
Typical reproductive profile
This is the most common genotype observed in the general population. There is no evidence suggesting this genotype is associated with the increased risk of male infertility linked to this variant.
Carried by the vast majority of individuals across all studied global populations.
Increased infertility risk
This genotype is associated with a statistically higher risk of male infertility compared to the common genotype. Research indicates this variant may affect sperm motility and morphology, though individual outcomes vary and this is not a diagnostic result.
This genotype is rare, occurring in less than 1.5% of the population based on current aggregate data.
Elevated infertility risk
This genotype is associated with a significantly increased risk of male infertility and potential issues with sperm function. If you are concerned about reproductive health, please consult with a fertility specialist or urologist to discuss your specific situation.
This genotype is very rare, appearing in a small fraction of a percent of the global population.
Understanding the Variant and Gene
The rs139862664 variant is a single nucleotide polymorphism (SNP) located within the ENO4 gene on chromosome 10. The ENO4 gene encodes enolase 4, a protein that functions as a glycolytic enzyme. This enzyme is specifically expressed in the sperm principal piece, a critical region of the sperm flagellum. Glycolysis is the metabolic process that provides the necessary energy for sperm cells to move effectively. Because ENO4 is essential for the organization and motility of the flagellum, changes in the gene that disrupt its function can have significant impacts on reproductive health. By studying this variant, researchers aim to better understand the molecular mechanisms that govern sperm physiology and the underlying causes of male factor infertility.
Research and Clinical Associations
Current research into rs139862664 is limited but provides important insights into its potential clinical impact. Studies have identified this variant in the context of asthenozoospermia, a condition characterized by reduced sperm motility, and abnormal sperm morphology. In one reported case, a homozygous variant in the ENO4 gene was found to segregate with infertility within a family, suggesting that the variant may impair the energy production required for sperm to swim. While the evidence strength is currently considered moderate, the association highlights the importance of ENO4 in male reproductive function. It is important to note that infertility is a complex condition influenced by many genetic and environmental factors, and the presence of this variant does not guarantee a specific clinical outcome.
What This Information Means for You
Genetic information regarding variants like rs139862664 is intended for educational purposes and should not be used for self-diagnosis. If you are concerned about fertility, the most appropriate step is to consult with a reproductive endocrinologist, urologist, or a qualified fertility specialist. These professionals can perform comprehensive semen analyses and clinical evaluations to determine the cause of any reproductive issues. Genetic testing is a tool that may be used in a clinical setting to help identify potential underlying causes, but it must be interpreted in the context of a full medical history. You cannot change your genetic code, but understanding your reproductive health status can help you and your clinician make informed decisions about family planning and potential medical interventions.
How common is this variant?
The rs139862664 variant is rare, with a reported minor allele frequency of approximately 0.72% in the GWAS Catalog.
Frequently asked questions
What is the ENO4 gene?
The ENO4 gene provides instructions for making the enolase 4 enzyme, which is vital for energy production in sperm cells. It is specifically located in the sperm flagellum.
Is rs139862664 a cause of infertility?
Research has associated this variant with male infertility in specific cases, particularly involving sperm motility. However, infertility is multifactorial, and this variant is only one of many potential contributors.
Should I get tested for this variant?
Routine testing for this specific variant is not standard practice. If you are experiencing fertility challenges, consult a fertility specialist who can recommend appropriate diagnostic testing.
Can I change my genotype?
No, your genotype is determined at conception and cannot be altered. Genetic information is used to understand health risks rather than to change your underlying DNA.
Sources & further reading
Educational information only, last refreshed 11/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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