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Rs1815739

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muscle performance
Orientationplus
is asnp
is mentioned by
dbSNPrs1815739
PheGenIrs1815739
nextbiors1815739
hapmaprs1815739
1000 genomesrs1815739
hgdprs1815739
ensemblrs1815739
gopubmedrs1815739
geneviewrs1815739
scholarrs1815739
googlers1815739
pharmgkbrs1815739
gwascentralrs1815739
openSNPrs1815739
23andMers1815739
23andMe allrs1815739
SNP Nexus

SNPshotrs1815739
SNPdbers1815739
MSV3drs1815739
GeneACTN3
Merged fromRs2228325
Chromosome11
Orientationplus
GMAF0.3742
Position66560624
ReferenceGRCh38 38.1/141
Max Magnitude2.3
Geno Mag Summary
(C;C) 2.2 Better performing muscles. Likely sprinter.
(C;T) 2.1 Mix of muscle types. Likely sprinter.
(T;T) 2.3 Impaired muscle performance. Likely endurance athlete.
? (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 the (C;C) genotype is often called RR. The truncated (T;T) is often called XX.

[PMID 18043716OA-icon.png] (T;T) is under-represented in elite strength athletes, consistent with previous reports indicating that alpha-actinin-3 deficiency appears to impair muscle performance.

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.

An earlier 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 12879365OA-icon.png]

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.

This is one of the SNPs reported by NutraHacker.

OMIM102574
Desc
Variant0001
Relatedalso


ClinVar
Risk rs1815739(C;C)
Alt rs1815739(C;C)
Reference rs1815739(T;T)
Significance 255
Disease ACTININ, Actn3 deficiency, Sprinting performance
ClinVar info
Gene ACTN3
CLNDBN ACTININ, ALPHA-3 POLYMORPHISM, Actn3 deficiency, Sprinting performance
Reversed 0
CLNHGVS NC_000011.9:g.66328095T\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000019974.1, RCV000019975.26, RCV000019976.26



[PMID 18852891OA-icon.png] Distribution and effects of nonsense polymorphisms in human genes.

[PMID 19237423OA-icon.png] 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 20585627OA-icon.png] 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 21407828OA-icon.png] Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.

[PMID 21542061OA-icon.png] 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.


GET Evidence
ACTN3-R577X
aa_change Arg577Stop
aa_change_short R577X
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 22891846] Human alpha-actinin-3 genotype association with exercise-induced muscle damage and the repeated-bout effect.