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ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.

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  • معلومة اضافية
    • المصدر:
      Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: London : BioMed Central, [2000-
    • الموضوع:
      Athletes* ; Athletic Performance* ; Running*; Actinin/*genetics ; Peptidyl-Dipeptidase A/*genetics; Alleles ; Black People ; Cohort Studies ; Female ; Genotype ; Humans ; Male ; Polymorphism, Genetic ; White People
    • نبذة مختصرة :
      Background: To date, studies investigating the association between ACTN3 R577X and ACE I/D gene variants and elite sprint/power performance have been limited by small cohorts from mixed sport disciplines, without quantitative measures of performance.
      Aim: To examine the association between these variants and sprint time in elite athletes.
      Methods: We collected a total of 555 best personal 100-, 200-, and 400-m times of 346 elite sprinters in a large cohort of elite Caucasian or African origin sprinters from 10 different countries. Sprinters were genotyped for ACTN3 R577X and ACE ID variants.
      Results: On average, male Caucasian sprinters with the ACTN3 577RR or the ACE DD genotype had faster best 200-m sprint time than their 577XX (21.19 ± 0.53 s vs. 21.86 ± 0.54 s, p = 0.016) and ACE II (21.33 ± 0.56 vs. 21.93 ± 0.67 sec, p = 0.004) counterparts and only one case of ACE II, and no cases of ACTN3 577XX, had a faster 200-m time than the 2012 London Olympics qualifying (vs. 12 qualified sprinters with 577RR or 577RX genotype). Caucasian sprinters with the ACE DD genotype had faster best 400-m sprint time than their ACE II counterparts (46.94 ± 1.19 s vs. 48.50 ± 1.07 s, p = 0.003). Using genetic models we found that the ACTN3 577R allele and ACE D allele dominant model account for 0.92 % and 1.48 % of sprint time variance, respectively.
      Conclusions: Despite sprint performance relying on many gene variants and environment, the % sprint time variance explained by ACE and ACTN3 is substantial at the elite level and might be the difference between a world record and only making the final.
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    • Contributed Indexing:
      Keywords: ACE; ACTN3; Athletes; Athletic performance; Exercise; Genomics; Sprint; α-actinin-3
    • الرقم المعرف:
      0 (ACTN3 protein, human)
      11003-00-2 (Actinin)
      EC 3.4.15.1 (ACE protein, human)
      EC 3.4.15.1 (Peptidyl-Dipeptidase A)
    • الموضوع:
      Date Created: 20160415 Date Completed: 20161024 Latest Revision: 20221207
    • الموضوع:
      20240829
    • الرقم المعرف:
      PMC4831144
    • الرقم المعرف:
      10.1186/s12864-016-2462-3
    • الرقم المعرف:
      27075997