The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes

被引:95
作者
Ahmetov, Ildus I. [1 ,2 ]
Williams, Alun G. [3 ]
Popov, Daniil V. [1 ]
Lyubaeva, Ekaterina V. [1 ]
Hakimullina, Albina M. [2 ]
Fedotovskaya, Olga N. [2 ]
Mozhayskaya, Irina A. [2 ]
Vinogradova, Olga L. [1 ]
Astratenkova, Irina V. [2 ]
Montgomery, Hugh E. [4 ]
Rogozkin, Viktor A. [2 ]
机构
[1] Russian Acad Sci, Inst Biomed Problems, SSC RF, Lab Muscle Performance, Moscow 123007, Russia
[2] St Petersburg Res Inst Phys Culture, Sports Genet Lab, St Petersburg 191040, Russia
[3] Manchester Metropolitan Univ, Dept Exercise & Sport Sci, Alsager ST7 2HL, Cheshire, England
[4] UCL Inst Human Hlth & Performance, London N19 5LW, England
关键词
PROLIFERATOR-ACTIVATED-RECEPTOR; MITOCHONDRIAL TRANSCRIPTION FACTOR; SKELETAL-MUSCLE; PROMOTER REGION; PPAR-ALPHA; EXERCISE; PERFORMANCE; PGC-1-BETA; EXPRESSION; ASSOCIATION;
D O I
10.1007/s00439-009-0728-4
中图分类号
Q3 [遗传学];
学科分类号
071007 [遗传学];
摘要
Endurance performance is a complex phenotype subject to the influence of both environmental and genetic factors. Although the last decade has seen a variety of specific genetic factors proposed, many in metabolic pathways, each is likely to make a limited contribution to an 'elite' phenotype: it seems more likely that such status depends on the simultaneous presence of multiple such variants. The aim of the study was to investigate individually and in combination the association of common metabolic gene polymorphisms with endurance athlete status, the proportion of slow-twitch muscle fibers and maximal oxygen consumption. A total of 1,423 Russian athletes and 1,132 controls were genotyped for 15 gene polymorphisms, of which most were previously reported to be associated with athlete status or related intermediate phenotypes. Muscle fiber composition of m. vastus lateralis in 45 healthy men was determined by immunohistochemistry. Maximal oxygen consumption of 50 male rowers of national competitive standard was determined during an incremental test to exhaustion on a rowing ergometer. Ten 'endurance alleles' (NFATC4 Gly160, PPARA rs4253778 G, PPARD rs2016520 C, PPARGC1A Gly482, PPARGC1B 203Pro, PPP3R1 promoter 5I, TFAM 12Thr, UCP2 55Val, UCP3 rs1800849 T and VEGFA rs2010963 C) were first identified showing discrete associations with elite endurance athlete status. Next, to assess the combined impact of all 10 gene polymorphisms, all athletes were classified according to the number of 'endurance' alleles they possessed. The proportion of subjects with a high (a parts per thousand yen9) number of 'endurance' alleles was greater in the best endurance athletes compared with controls (85.7 vs. 37.8%, P = 7.6 x 10(-6)). The number of 'endurance' alleles was shown to be positively correlated (r = 0.50; P = 4.0 x 10(-4)) with the proportion of fatigue-resistant slow-twitch fibers, and with maximal oxygen consumption (r = 0.46; P = 7.0 x 10(-4)). These data suggest that the likelihood of becoming an elite endurance athlete depends on the carriage of a high number of endurance-related alleles.
引用
收藏
页码:751 / 761
页数:11
相关论文
共 64 条
[1]
ACUTE AND CHRONIC RESPONSES OF SKELETAL-MUSCLE TO ENDURANCE AND SPRINT EXERCISE - A REVIEW [J].
ABERNETHY, PJ ;
THAYER, R ;
TAYLOR, AW .
SPORTS MEDICINE, 1990, 10 (06) :365-389
[2]
AHMETOV, 2008, ROSS FIZIOL ZH IM SE, V94, P915
[3]
AHMETOV, 2007, ROSS FIZIOL ZH IM SE, V93, P837
[4]
Association of a PPARD polymorphism with human physical performance [J].
Ahmetov, I. I. ;
Astratenkova, I. V. ;
Rogozkin, V. A. .
MOLECULAR BIOLOGY, 2007, 41 (05) :776-780
[5]
Polymorphism of the vascular endothelial growth factor gene (VEGF) and aerobic performance in athletes [J].
Ahmetov I.I. ;
Khakimullina A.M. ;
Popov D.V. ;
Missina S.S. ;
Vinogradova O.L. ;
Rogozkin V.A. .
Human Physiology, 2008, 34 (4) :477-481
[6]
The use of molecular genetic methods for prognosis of aerobic and anaerobic performance in athletes [J].
Ahmetov I.I. ;
Popov D.V. ;
Astratenkova I.V. ;
Druzhevskaya A.M. ;
Missina S.S. ;
Vinogradova O.L. ;
Rogozkin V.A. .
Human Physiology, 2008, 34 (3) :338-342
[7]
PPARα gene variation and physical performance in Russian athletes [J].
Ahmetov, II ;
Mozhayskaya, IA ;
Flavell, DM ;
Astratenkova, IV ;
Komkova, AI ;
Lyubaeva, EV ;
Tarakin, PP ;
Shenkman, BS ;
Vdovina, AB ;
Netreba, AI ;
Popov, DV ;
Vinogradova, OL ;
Montgomery, HE ;
Rogozkin, VA .
EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY, 2006, 97 (01) :103-108
[8]
Ahmetov II, 2009, MED SPORT SCI, V54, P43, DOI 10.1159/000235696
[9]
Different pathways regulate expression of the skeletal myosin heavy chain genes [J].
Allen, DL ;
Sartorius, CA ;
Sycuro, LK ;
Leinwand, LA .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (47) :43524-43533
[10]
Alvarez V, 2008, J ALZHEIMERS DIS, V13, P275