rs1815739
| muscle performance |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.2 | Better performing muscles. Likely sprinter. |
| (C;T) | 2.1 | Mix of muscle types. Likely sprinter. |
| (T;T) | 2.2 | Impaired muscle performance. Likely endurance athlete. |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 66560624 |
| Gene | ACTN3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1815739 |
| dbSNP (classic) | rs1815739 |
| ClinGen | rs1815739 |
| ebi | rs1815739 |
| HLI | rs1815739 |
| Exac | rs1815739 |
| Gnomad | rs1815739 |
| Varsome | rs1815739 |
| LitVar | rs1815739 |
| Map | rs1815739 |
| PheGenI | rs1815739 |
| Biobank | rs1815739 |
| 1000 genomes | rs1815739 |
| hgdp | rs1815739 |
| ensembl | rs1815739 |
| geneview | rs1815739 |
| scholar | rs1815739 |
| rs1815739 | |
| pharmgkb | rs1815739 |
| gwascentral | rs1815739 |
| openSNP | rs1815739 |
| 23andMe | rs1815739 |
| SNPshot | rs1815739 |
| SNPdbe | rs1815739 |
| MSV3d | rs1815739 |
| GWAS Ctlg | rs1815739 |
| Merged from | Rs2228325 |
| GMAF | 0.3742 |
| Max Magnitude | 2.2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
This SNP, in the ACTN3 gene, encodes a premature stop codon in a muscle protein called alpha-actinin-3. The polymorphism alters position 577 of the alpha-actinin-3 protein. In publications the (C;C) genotype is often called RR, whereas the (T;T) genotype is often called XX.
According to [PMID 18043716
] (T;T) is under-represented in elite strength athletes, consistent with previous reports indicating that alpha-actinin-3 deficiency appears to impair muscle performance. However in 2016 [PMID 26824906] failed to replicate casting some doubt.
The most common nucleotide at this position, (C), encodes an arginine (amino acid code R), the alternative T allele encodes a stop codon (X). Hence, the SNP is referred to as R577X, with homozygotes being either RR or XX and heterozygotes being RX. XX individuals completely lack the expression of alpha-actinin-3.
One of the earliest report studying a relatively small number of Australian elite (i.e. ~Olympic) athletes found that, at least in females, the R allele (ie rs1815739(C)) is associated with sprinters, while the X allele (rs1815739(T)) is associated with endurance athletes. No female or Olympic-level sprinters were XX homozygotes (rs1815739(T;T)). The association tended the same way but was statistically weaker in males. [PMID 12879365]. There have been several subsequent studies, but few with large sample sizes and thus few with much statistical power. An example of a typical study: no increase in endurance ability was associated with the X allele in elite male cyclists. [PMID 16612741]
An extensive blog post from one of the original authors of this research.
One paper has found that the X allele profile of centenarians resembles that of world-class elite endurance athletes. [PMID 21407828]
This is one of the SNPs reported by NutraHacker.
| ClinVar | |
|---|---|
| Risk | Rs1815739(C;C) |
| Alt | Rs1815739(C;C) |
| Reference | Rs1815739(T;T) |
| Significance | Other |
| Disease | ACTININ ACTN3 deficiency Sprinting performance |
| Variation | info |
| Gene | ACTN3 |
| CLNDBN | ACTININ, ALPHA-3 POLYMORPHISM ACTN3 deficiency Sprinting performance |
| Reversed | 0 |
| HGVS | NC_000011.9:g.66328095T\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019974.2, RCV000019975.27, RCV000019976.27, |
[PMID 18852891] Distribution and effects of nonsense polymorphisms in human genes.
[PMID 19237423] Is there an optimum endurance polygenic profile?
[PMID 19544227] ACTN3 R577X polymorphism and Israeli top-level athletes.
[PMID 20005538] Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?
[PMID 20561285] ACTN3 R577X polymorphism does not influence explosive leg muscle power in elite volleyball players.
[PMID 20585627] Web-based, participant-driven studies yield novel genetic associations for common traits.
[PMID 20845221] ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study.
[PMID 20936592] Association between the ACTN3 R577X polymorphism and female endurance athletes in China.
[PMID 21407828] Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.
[PMID 21542061] ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies.
[PMID 22224919] ACTN3 R577X polymorphism and performance phenotypes in young Chinese male soldiers.
[PMID 22891846] Human alpha-actinin-3 genotype association with exercise-induced muscle damage and the repeated-bout effect.
[PMID 25761735] The ACTN3 R577X genotype is associated with muscle function in a Japanese population
[PMID 26324221] ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes
