Are ‘Endurance’ Alleles ‘Survival’ Alleles? Insights from the ACTN3 R577X Polymorphism
Author Information
Author(s): Fiuza-Luces Carmen, Ruiz Jonatan R., Rodríguez-Romo Gabriel, Santiago Catalina, Gómez-Gallego Félix, Yvert Thomas, Cano-Nieto Amalia, Garatachea Nuria, Morán María, Lucia Alejandro
Primary Institution: Universidad Europea de Madrid, Madrid, Spain
Hypothesis
The XX genotype tends to be overrepresented in centenarians compared with the general population.
Conclusion
The ACTN3 genotype of centenarians resembles that of elite endurance athletes and differs from that of elite power athletes.
Supporting Evidence
- The frequency of the null XX genotype in centenarians was the highest ever reported in non-athletic Caucasian populations.
- Centenarians showed a significantly higher frequency of the X allele compared to power athletes.
- The ACTN3 genotype profile of centenarians resembles that of elite endurance athletes.
Takeaway
This study looked at the genes of very old people to see if certain genes help them live longer. It found that some genes linked to endurance sports are also found in these centenarians.
Methodology
The study compared ACTN3 R577X genotype frequencies among centenarians, young healthy controls, and elite athletes.
Potential Biases
The study only included male athletes in the elite cohorts, which may introduce gender bias.
Limitations
The sample size of centenarians was relatively low, which may limit the statistical power of the findings.
Participant Demographics
Centenarians were aged 100-108 years, primarily female; young controls were aged 21±2 years, mixed gender.
Statistical Information
P-Value
0.011; 0.019
Confidence Interval
95% CI: 0.484–1.803
Statistical Significance
p=0.011; p=0.019
Digital Object Identifier (DOI)
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