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Sökning: WFRF:(Buxens A)

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  • Gomez-Gallego, F, et al. (författare)
  • Are elite endurance athletes genetically predisposed to lower disease risk?
  • 2010
  • Ingår i: Physiological genomics. - : American Physiological Society. - 1531-2267 .- 1094-8341. ; 41:1, s. 82-90
  • Tidskriftsartikel (refereegranskat)abstract
    • We compared a polygenic profile that combined 33 disease risk-related mutations and polymorphisms among nonathletic healthy control subjects and elite endurance athletes. The study sample comprised 100 healthy Spanish male nonathletic (sedentary) control subjects and 100 male elite endurance athletes. We analyzed 33 disease risk-related mutations and polymorphisms. We computed a health-related total genotype score (TGS, 0–100) from the accumulated combination of the 33 variants. We did not observe significant differences in genotype or allele distributions among groups, except for the rs4994 polymorphism ( P < 0.001). The computed health-related TGS was similar among groups (23.8 ± 1.0 vs. 24.2 ± 0.8 in control subjects and athletes, respectively; P = 0.553). Similar results were obtained when computing specific TGSs for each main disease category (cardiovascular disease and cancer). We observed no evidence that male elite endurance athletes are genetically predisposed to have lower disease risk than matched nonathletic control subjects.
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  • Ruiz, JR, et al. (författare)
  • Can we identify a power-oriented polygenic profile?
  • 2010
  • Ingår i: Journal of applied physiology (Bethesda, Md. : 1985). - : American Physiological Society. - 1522-1601 .- 8750-7587. ; 108:3, s. 561-566
  • Tidskriftsartikel (refereegranskat)abstract
    • Using the model originally developed by Williams and Folland ( J Physiol 586: 113–121, 2008), we determined 1) a “total genotype score” (TGS, from the accumulated combination of the 6 polymorphisms, with a maximum value of “100” for the theoretically optimal polygenic score) in a group of elite power athletes, endurance athletes, and nonathletic controls, and 2) the probability for the occurrence of Spanish individuals with the “perfect” power-oriented profile (i.e., TGS = 100). We analyzed six polymorphism that are candidates to explain individual variations in elite power athletic status or power phenotypes ( ACE I/D, ACTN3 R577X, AGT Met235Thr, GDF-8 K153R, IL6 −174 G/C, and NOS3 −786T>C) in 53 elite track and field power athletes (jumpers, sprinters), 100 nonathletic controls, and 100 elite endurance athletes (distance runners and road cyclists) (all Spanish Caucasian males). The mean TGS was significantly higher in power athletes (70.8 ± 17.3) compared with endurance athletes (60.4 ± 15.9; P < 0.001) and controls (63.3 ± 13.2; P = 0.012), whereas it did not differ between the latter two groups ( P = 0.366). A total of five power athletes (9.4%, all sprinters) had a theoretically “optimal” TGS of 100 vs. 0 subjects in the other two groups. The probability of a Spanish individual possessing a theoretically optimal polygenic profile for up to the six candidate polymorphisms we studied was very small, i.e., ∼0.2% (or 1 in 500 Spanish individuals). We have identified a polygenic profile that allows us, at least partly, to distinguish elite power athletes from both endurance athletes and nonathletic population.
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