Trp64Arg polymorphism in ADRB3 gene is associated with elite endurance performance

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Ruiz, Jonatan R.
Buxens, Amaya
Artieda, Marta
Arteta, David

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In this study, allele and genotype frequencies of the ADRB1 Arg389Gly (rs1801253), ADRB2 Gly16Arg (rs1042713) and Gln27Glu (rs1042714), and ADRB3 Trp64Arg (rs4994) variations were compared in the following three groups of Spanish (Caucasian) men: (1) world-class endurance athletes (E; runners and cyclists, n=100), (2) elite power athletes (P; sprinters, jumpers and throwers, n=53) and (3) non-athletic controls (C; n=100). No significant differences were observed in genotype and allele distributions among the study groups except for the ADRB3 Trp64Arg polymorphism in E versus C (27% vs 8% of carriers of the Arg allele in E and C, p<0.001; frequency of the minor Arg (C) allele of 14% vs 4% in E and C, p=0.001). Heterozygosity for the ADRB3 Trp64Arg polymorphism seems to be associated with elite endurance performance, while other variants of the β-adrenergic receptors' genes do not seem to significantly influence top-level sports performance, at least in athletes of Spanish origin.

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Santiago-Dorrego, C., Ruiz, J. R., Buxens, A., Artieda, M., Arteta, D., González-Freire, M., …, & Lucía-Mulas, A. (2011). Trp64Arg polymorphism in ADRB3 gene is associated with elite endurance performance. British Journal of Sports Medicine, 45(2), 147-149.

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