MSTN rs11333758: What Your Genotype Means for Physical Performance
The rs11333758 variant is a genetic marker located within the MSTN gene, which encodes the protein myostatin. Research has observed that this specific variant is overrepresented in certain elite athlete cohorts, suggesting a potential, though complex, role in physical performance.
What each genotype means
Typical myostatin expression
This genotype represents the most common form of the MSTN gene in the general population. Research indicates that individuals without the deletion variant do not show the specific association with endurance-oriented athletic status observed in carriers of the deletion.
This is the most common genotype found in the general population across most studied ancestries.
Potential endurance performance association
This genotype includes one copy of the intronic deletion (c.373+90delA). Some studies suggest that carriers of this deletion may have a higher likelihood of being endurance-oriented athletes compared to those without it, though the exact biological mechanism remains a subject of ongoing research.
This genotype is found at varying frequencies in the general population and is notably more prevalent in certain elite athlete cohorts.
Elevated endurance performance association
Carrying two copies of this intronic deletion has been associated with a significantly higher likelihood of being an endurance-oriented athlete in specific study cohorts. While this variant is linked to athletic status, it is not a diagnostic tool for physical performance and should be viewed as one of many factors influencing athletic potential.
This genotype is relatively rare in the general population but has been observed at higher frequencies in specific endurance-athlete groups.
Understanding the rs11333758 Variant
The rs11333758 variant is a single nucleotide polymorphism (SNP) located in the first intron of the MSTN gene. In genetic research, this variant is often identified as a deletion of an adenine nucleotide, sometimes referred to in literature as c.373+90delA. Because it sits within an intron—a non-coding region of the gene—it does not directly alter the amino acid sequence of the resulting protein. Instead, researchers investigate whether such intronic variants might influence how the gene is expressed or regulated. While many SNPs are neutral, scientists study this specific marker because of its recurring appearance in studies comparing the genetic profiles of elite athletes against non-athlete control groups. It serves as a point of interest for those exploring the polygenic nature of human physical capability.
The Role of the MSTN Gene
The MSTN gene provides instructions for making a protein called myostatin, which is a member of the transforming growth factor-beta (TGF-beta) superfamily. Myostatin acts as a negative regulator of muscle growth, meaning it essentially puts a 'brake' on muscle development to prevent excessive hypertrophy. In various animal models, the loss or inhibition of myostatin leads to significantly increased muscle mass and strength. In humans, rare, severe mutations that disrupt myostatin function have been linked to conditions of muscle hypertrophy. Because of this biological function, the MSTN gene is a primary candidate for researchers studying the genetic underpinnings of athletic performance. The hypothesis is that variations in this gene might modulate the body's natural 'brake' on muscle growth, potentially influencing how individuals respond to physical training and exercise.
Research and Athletic Performance
Evidence linking rs11333758 to athletic status is considered moderate and is primarily derived from association studies in specific populations. For instance, research involving Lithuanian and Polish cohorts has reported that the deletion genotype is more common among elite athletes, particularly those in endurance or mixed-sport disciplines, compared to the general population. One study noted that endurance-oriented athletes had significantly higher odds of carrying the deletion genotype. However, it is crucial to interpret these findings with caution. Athletic success is a complex trait influenced by hundreds of genetic markers, environmental factors, nutrition, and training history. A single SNP like rs11333758 does not determine athletic potential on its own, and findings in one population may not necessarily replicate in others. The current scientific consensus views this variant as a potential contributor to a broader genetic profile rather than a standalone predictor of success.
Interpreting Your Genetic Information
If you encounter this variant in a genetic report, it is important to understand that it is not a diagnostic tool for athletic talent or health. The presence of a specific genotype does not guarantee any particular physical outcome, nor does it replace the value of dedicated training and professional coaching. You cannot use this information to predict your future performance or to diagnose any medical condition. If you are interested in how your genetics might influence your fitness, the best approach is to focus on evidence-based training programs and consult with sports scientists or qualified trainers. Genetic testing for performance markers is an area of ongoing research, and the clinical utility of such data remains limited. Always prioritize your overall health and well-being over individual genetic markers, and remember that your lifestyle choices remain the most significant factor in your physical development.
How common is this variant?
The rs11333758 variant is relatively common in various populations, though specific frequency data varies by ancestry. It is frequently observed in studies focusing on athlete cohorts.
Frequently asked questions
Does the rs11333758 variant make me an elite athlete?
No. Athletic performance is a complex trait influenced by hundreds of genes, environmental factors, and years of training. This variant is only one small piece of a very large puzzle.
Can I use this SNP to choose a sport?
No. Genetic markers like rs11333758 are not predictive enough to guide career or sport selection. You should choose sports based on your personal interests and physical enjoyment.
Is this variant related to muscle diseases?
While the MSTN gene is involved in muscle growth, this specific intronic variant is primarily studied in the context of athletic performance. It is not typically associated with the rare, severe muscle hypertrophy conditions caused by pathogenic mutations in the coding region of the gene.
Should I change my training based on this result?
No. You should not alter your training regimen based on a single genetic variant. Always consult with a professional coach or sports scientist to develop a training plan that is safe and effective for your goals.
Sources & further reading
Educational information only, last refreshed 9/27/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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The rare R (Arg) allele of the Lys153Arg polymorphism alters myostatin bioactivity and has been associated with enhanced hypertrophic response and muscle power capacity.
A missense variant (Lys153Arg) in the myostatin gene that modulates negative regulation of skeletal muscle mass and has been correlated with individual differences in muscle volume and resistance training-induced strength gains.