Apr 27, 2020

Detection of epistasis between ACTN3 and SNAP-25 with an insight towards gymnastic aptitude identification

BioRxiv : the Preprint Server for Biology
Łukasz A. PłociennikP. Cieszczyk


In this study, we performed an analysis of the impact of performance enhancing polymorphisms (PEPs) on gymnastic aptitude while considering epistatic effects. Seven PEPs (rs1815739, rs8192678, rs4253778, rs6265, rs5443, rs1076560, rs362584) were considered in a case (gymnasts) - control (sedentary individuals) setting. The study sample comprised of two athletes' sets: 27 elite (aged 24.8 {+/-} 2.1 years) and 46 sub-elite (aged 19.7 {+/-} 2.4 years) sportsmen as well as a control group of 245 sedentary individuals (aged 22.5 {+/-} 2.1 years). The DNA was derived from saliva and PEP alleles were determined by PCR, RT-PCR. Following Multifactor Dimensionality Reduction, logistic regression models were built. The synergistic effect for rs1815739 x rs362584 reached 5.43%. The rs1815739 x rs362584 epistatic regression model exhibited a good fit to the data (Chi-squared = 33.758, p-value; {approx}0) achieving a significant improvement in sportsmen identification over naive guessing. The area under the receiver operating characteristic curve was 0.715 (Z-score = 38.917, p-value; {approx}0). In contrast, the additive ACTN3 + SNAP-25 logistic regression model has been verified as non-significant. We demonstrate that a gene involved in th...Continue Reading

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Mentioned in this Paper

ATF6 gene
ERN1 protein, human
Unfolded Protein Response
Molecular chaperone GRP78
Cross Validation
EIF2AK3 protein, human
EIF2AK3 wt Allele
Molecular Chaperones

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