Polymorphism: rs1815739
rs1815739
(
SNPedia |
23andMe
)
Location: 11q13.1
Factor:
- Symbol: ACTN3
- Name: actinin, alpha 3
- Entrez ID: 89
- Ensembl ID: ENSG00000248746
Factors:
ACTN3
actinin, alpha 3
(
89
/
ENSG00000248746
)
Description:
The SNP is C/T = Arg/Stop-Codon_x000D_. a comparison between Elite endurance athletes vs centenarians and Elite power athletes vs centenarians was also performed_x000D_. the frequency of T (stop-codon) carriers and T allele was higher in the centenarians compared with the power athletes group.
Ethnicity:
Caucasian,
Spaniard
Age of cases: centenarians (aged 100–108 years)
Statistics
- Number of cases/controls: 59 vs 283 (initial)
- Odds ratio: 1.032
- p-value:
0.1
[>0.1]
- Significant: No
Study Design
- Classifications:
No Age Effect
- Study type: Candidate Region/Gene
- Technology: ABI Prism 310 genetic analyzer; Applied Biosystems & replicared with low-density DNA microarray based on allele-specific probes
Reference:
21407828: Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.
Choice: Curate
Created: July 2, 2013, 2:48 a.m.
Updated: Aug. 8, 2014, 1:06 p.m.
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