HIF1A P582S gene association with endurance training responses in young women

• Published in: European journal of applied physiology 2011-09, Vol.111 (9), p.2339-2347
• Main Authors: McPhee, J. S., Perez-Schindler, J., Degens, H., Tomlinson, D., Hennis, P., Baar, K., Williams, A. G.
• Format: Article
• Language: English
• Subjects: Adaptations; Age Factors; Amino acid sequence; Amino Acid Substitution; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cell culture; Codons; Cyclooxygenase-1; Cytochrome-c oxidase; Endurance; Enzymes; Exercise; Exercise (intensity); Exercise Test; Fatty acids; Female; Fundamental and applied biological sciences. Psychology; Gene polymorphism; Genetic Association Studies; Glycolysis; Homozygotes; Human Physiology; Humans; Hypoxia; Hypoxia-inducible factor 1 alpha; Hypoxia-Inducible Factor 1, alpha Subunit - genetics; Lipids; Metabolism; Mitochondria; Muscles; Musculoskeletal system; Nucleotide sequence; Occupational Medicine/Industrial Medicine; Original Article; Oxidation; phosphofructokinase; Physical Education and Training; Physical Endurance - genetics; Physical Endurance - physiology; Physical fitness; Physical training; Polymorphism; Polymorphism, Single Nucleotide; Proline; Proline - genetics; Proteins; Serine; Serine - genetics; Sex Factors; Sports Medicine; Training (programs); Vertebrates: body movement. Posture. Locomotion. Flight. Swimming. Physical exercise. Rest. Sports; Women; Young Adult; Young adults; Youth
• ISSN: 1439-6319; 1439-6327
• DOI: 10.1007/s00421-011-1869-4

Sequence variations in the gene encoding the hypoxia-inducible factor-1alpha, HIF1A, have been associated with physiologic function and could be associated with exercise responses. In the HIF1A P582S gene polymorphism (C1772T; rs 11549465 C/T), a single nucleotide transition from C → T alters the codon sequence from the usual amino acid; proline (C-allele), to serine (T-allele). This polymorphism was examined for association with endurance training responses in 58 untrained young women who completed a 6-week laboratory-based endurance training programme. Participant groups were defined as CC homozygotes versus carriers of a T-allele (CC vs. CT genotypes). Adaptations were examined at the systemic-level, by measuring and the molecular-level by measuring enzymes determined from vastus lateralis ( n  = 20): 3-hydroacyl-CoA-dehydrogenase (HAD), which regulates mitochondrial fatty acid oxidation; cytochrome C oxidase (COX-1), a marker of mitochondrial density; and phosphofructokinase (PFK), a marker of glycolytic capacity. CT genotypes showed 45% higher training-induced gains in compared with CC genotypes ( P