Genetic influences in sport and physical performance

Sports Medicine

Volumn 41, Issue 10, 2011, Pages 845-859

  Puthucheary, Zudin ^a   Skipworth, James R A ^a   Rawal, Jai ^a   Loosemore, Mike ^b   Van Someren, Ken ^b   Montgomery, Hugh E ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b ENGLISH INSTITUTE OF SPORT   (United Kingdom)

Author keywords

Genetic polymorphism; Sports; Sports injuries; Sports medicine

Indexed keywords

COLLAGEN; SIGNAL PEPTIDE; VITAMIN D;

ATHLETIC PERFORMANCE; FEMALE; GENE; GENETIC POLYMORPHISM; GENETICS; GROWTH, DEVELOPMENT AND AGING; HEART; HISTOLOGY; HUMAN; LUNG; MALE; MUSCLE STRENGTH; ORGAN SIZE; PHYSIOLOGY; REVIEW; SKELETAL MUSCLE; SPORT INJURY;

ATHLETIC INJURIES; ATHLETIC PERFORMANCE; COLLAGEN; FEMALE; GENES; HEART; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; LUNG; MALE; MUSCLE STRENGTH; MUSCLE, SKELETAL; ORGAN SIZE; POLYMORPHISM, GENETIC; VITAMIN D;

EID: 80052972225     PISSN: 01121642     EISSN: 11792035     Source Type: Journal    
DOI: 10.2165/11593200-000000000-00000     Document Type: Review

References (182)

1. Goldstein DB, Cavalleri GL. Genomics: understanding human diversity. Nature 2005; 437 (7063): 1241-2
2. Montgomery HE, Marshall R, Hemingway H, et al. Human gene for physical performance. Nature 1998; 393 (6682): 221-2
3. Williams AG, Dhamrait SS, Wootton PT, et al. Bradykinin receptor gene variant and human physical performance. J Appl Physiol 2004; 96 (3): 938-42 (Pubitemid 38248666)
4. Woods DR, Montgomery HE. Angiotensin-converting enzyme and genetics at high altitude. High Alt Med Biol 2001; 2 (2): 201-10 (Pubitemid 32677858)
5. Jones A, Montgomery HE, Woods DR. Human performance: a role for the ACE genotype? Exerc Sport Sci Rev 2002; 30 (4): 184-90 (Pubitemid 35204534)
6. Wang P, Fedoruk MN, Rupert JL. Keeping pace with ACE: are ACE inhibitors and angiotensin II type 1 receptor antagonists potential doping agents? Sports Med 2008; 38 (12): 1065-79
7. Woods D. Angiotensin-converting enzyme, renin-angiotensin system and human performance. Med Sport Sci 2009; 54: 72-87
8. Arden NK, Spector TD. Genetic influences on muscle strength, lean body mass, and bone mineral density: a twin study. J Bone Miner Res 1997; 12 (12): 2076-81 (Pubitemid 27524484)
9. Beunen G, Thomis M. Gene powered? Where to go from heritability (h2) in muscle strength and power? Exerc Sport Sci Rev 2004; 32 (4): 148-54 (Pubitemid 39362878)
10. Bouchard C, Malina RM, Perusse L. Genetics of fitness and physical performance. Champaign (IL): Human Kinetics, 1997
11. Frederiksen H, Bathum L, Worm C, et al. ACE genotype and physical training effects: a randomized study among elderly Danes. Aging Clin Exp Res 2003; 15 (4): 284-91 (Pubitemid 37441513)
12. Tiainen K, Sipila S, Alen M, et al. Heritability of maximal isometric muscle strength in older female twins. J Appl Physiol 2004; 96 (1): 173-80 (Pubitemid 38031998)
13. Maes HH, Beunen GP, Vlietinck RF, et al. Inheritance of physical fitness in 10-yr-old twins and their parents. Med Sci Sports Exerc 1996; 28 (12): 1479-91 (Pubitemid 26424672)
14. Cupeiro R, Benito PJ, Maffulli N, et al. MCT1 genetic polymorphism influence in high intensity circuit training: a pilot study. J Sci Med Sport 2010; 13 (5): 526-30
15. Riechman SE, Balasekaran G, Roth SM, et al. Association of interleukin-15 protein and interleukin-15 receptor genetic variation with resistance exercise training responses. J Appl Physiol 2004; 97 (6): 2214-9 (Pubitemid 39552462)
16. Tsujinaka T, Fujita J, Ebisui C, et al. Interleukin 6 receptor antibody inhibits muscle atrophy and modulates proteolytic systems in interleukin 6 transgenic mice. J Clin Invest 1996; 97 (1): 244-9 (Pubitemid 26022595)
17. Goodman MN. Interleukin-6 induces skeletal muscle protein breakdown in rats. Proc Soc Exp Biol Med 1994; 205 (2): 182-5 (Pubitemid 24130273)
18. Visser M, Pahor M, Taaffe DR, et al. Relationship of interleukin-6 and tumor necrosis factor-alpha with muscle mass and muscle strength in elderly men and women: the Health ABC Study. J Gerontol A Biol Sci Med Sci 2002; 57 (5): M326-32 (Pubitemid 34464974)
19. Roth SM, Schrager MA, Lee MR, et al. Interleukin-6 (IL6) genotype is associated with fat-free mass in men but not women. J Gerontol A Biol Sci Med Sci 2003; 58 (12): B1085-8
20. Vergara C, Ramirez B. CNTF, a pleiotropic cytokine: emphasis on its myotrophic role. Brain Res Brain Res Rev 2004; 47 (1-3): 161-73 (Pubitemid 39574318)
21. Helgren ME, Squinto SP, Davis HL, et al. Trophic effect of ciliary neurotrophic factor on denervated skeletal muscle. Cell 1994; 76 (3): 493-504 (Pubitemid 24064170)
22. Guillet C, Auguste P, Mayo W, et al. Ciliary neurotrophic factor is a regulator of muscular strength in aging. J Neurosci 1999; 19 (4): 1257-62 (Pubitemid 29088908)
23. Roth SM, Metter EJ, Lee MR, et al. C174T polymorphism in the CNTF receptor gene is associated with fat-free mass in men and women. J Appl Physiol 2003; 95 (4): 1425-30 (Pubitemid 37169284)
24. Roth SM, SchragerMA, Ferrell RE, et al. CNTF genotype is associated with muscular strength and quality in humans across the adult age span. J Appl Physiol 2001; 90 (4): 1205-10 (Pubitemid 32220900)
25. Schrager MA, Roth SM, Ferrell RE, et al. Insulin-like growth factor-2 genotype, fat-free mass, and muscle performance across the adult life span. J Appl Physiol 2004; 97 (6): 2176-83 (Pubitemid 39552457)
26. Sayer AA, Syddall H, O'Dell SD, et al. Polymorphism of the IGF2 gene, birth weight and grip strength in adult men. Age Ageing 2002; 31 (6): 468-70 (Pubitemid 35452793)
27. Weiss RE, Refetoff S. Effect of thyroid hormone on growth: lessons from the syndrome of resistance to thyroid hormone. Endocrinol Metab Clin North Am 1996; 25 (3): 719-30 (Pubitemid 26304482)
28. Erkintalo M, Bendahan D, Mattéi J-P, et al. Reduced metabolic efficiency of skeletal muscle energetics in hyperthyroid patients evidenced quantitatively by in vivo phosphorus-31 magnetic resonance spectroscopy. Metabolism 1998; 47 (7): 769-76 (Pubitemid 28313179)
29. Ceda GP, Fielder PJ, Donovan SM, et al. Regulation of insulin-like growth factor-binding protein expression by thyroid hormone in rat GH3 pituitary tumor cells. Endocrinology 1992; 130 (3): 1483-9
30. Crew MD, Spindler SR. Thyroid hormone regulation of the transfected rat growth hormone promoter. J Biol Chem 1986; 261 (11): 5018-22 (Pubitemid 17204296)
31. Shapiro LE, Samuels HH, Yaffe BM. Thyroid and glucocorticoid hormones synergistically control growth hormone mRNA in cultured GH1 cells. Proc Natl Acad Sci USA 1978; 75 (1): 45-9 (Pubitemid 8290445)
32. Peeters AC, Netea MG, Kullberg BJ, et al. The effect of renin-angiotensin system inhibitors on pro-and antiinflammatory cytokine production. Immunology 1998; 94 (3): 376-9 (Pubitemid 28318603)
33. van Rossum EF, Koper JW, Huizenga NA, et al. A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels. Diabetes 2002; 51 (10): 3128-34
34. van Rossum EF, Voorhoeve PG, te Velde SJ, et al. The ER22/23EK polymorphism in the glucocorticoid receptor gene is associated with a beneficial body composition and muscle strength in young adults. J Clin EndocrinolMetab 2004; 89 (8): 4004-9 (Pubitemid 39071507)
35. Uitterlinden AG, Fang Y, Van Meurs JB, et al. Genetics and biology of vitamin D receptor polymorphisms. Gene 2004; 338 (2): 143-56 (Pubitemid 39094759)
36. Baker AR, McDonnell DP, Hughes M, et al. Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc Natl Acad Sci USA 1988; 85 (10): 3294-8
37. Norman AW, Nemere I, Zhou LX, et al. 1,25(OH)2-vitamin D3, a steroid hormone that produces biologic effects via both genomic and nongenomic pathways. J Steroid Biochem Mol Biol 1992; 41 (3-8): 231-40
38. Walters MR. Newly identified actions of the vitamin D endocrine system. Endocr Rev 1992; 13 (4): 719-64 (Pubitemid 23037213)
39. Harant H, Wolff B, Lindley IJ. 1Alpha,25-dihydroxyvitamin D3 decreases DNA binding of nuclear factorkappaB in human fibroblasts. FEBS Lett 1998; 436 (3): 329-34 (Pubitemid 28482955)
40. Pfeifer M, Begerow B, Minne HW. Vitamin D and muscle function. Osteoporos Int 2002; 13 (3): 187-94 (Pubitemid 34408183)
41. Janssen HC, Samson MM, Verhaar HJ. Vitamin D deficiency, muscle function, and falls in elderly people. Am J Clin Nutr 2002; 75 (4): 611-5 (Pubitemid 34250675)
42. Endo I, Inoue D, Mitsui T, et al. Deletion of vitamin D receptor gene in mice results in abnormal skeletal muscle development with deregulated expression of myoregulatory transcription factors. Endocrinology 2003; 144 (12): 5138-44 (Pubitemid 37476038)
43. Holick MF.Noncalcemic actions of 1,25-dihydroxyvitamin D3 and clinical applications. Bone 1995; 17 (2 Suppl.): 107S-11S
44. Morelli S, Buitrago C, Vazquez G, et al. Involvement of tyrosine kinase activity in 1alpha,25(OH)2-vitamin D3 signal transduction in skeletal muscle cells. J Biol Chem 2000; 275 (46): 36021-8
45. Buitrago CG, Pardo VG, de Boland AR, et al. Activation of RAF-1 through Ras and protein kinase Calpha mediates 1alpha,25(OH)2-vitamin D3 regulation of the mitogenactivated protein kinase pathway in muscle cells. J Biol Chem 2003; 278 (4): 2199-205 (Pubitemid 36801286)
46. de Boland AR, Morelli S, Boland R. 1,25(OH)2-vitamin D3 signal transduction in chick myoblasts involves phosphatidylcholine hydrolysis. J Biol Chem 1994; 269 (12): 8675-9
47. Buitrago C, VazquezG,De BolandAR, et al. The vitamin D receptor mediates rapid changes in muscle protein tyrosine phosphorylation induced by 1,25(OH)(2)D(3). Biochem Biophys Res Commun 2001; 289 (5): 1150-6 (Pubitemid 34076311)
48. Schott GD, Wills MR. Muscle weakness in osteomalacia. Lancet 1976; 1 (7960): 626-9
49. Yoshikawa S, Nakamura T, Tanabe H, et al. Osteomalacic myopathy. Endocrinol Jpn 1979; 26 Suppl.: 65-72
50. Russell JA. Osteomalacic myopathy. Muscle Nerve 1994; 17 (6): 578-80 (Pubitemid 24157380)
51. Ziambaras K, Dagogo-Jack S. Reversible muscle weakness in patients with vitamin D deficiency. West J Med 1997; 167 (6): 435-9 (Pubitemid 128752619)
52. Birge SJ, Haddad JG. 25-hydroxycholecalciferol stimulation of muscle metabolism. J Clin Invest 1975; 56 (5): 1100-7
53. Bischoff HA, Stahelin HB, Dick W, et al. Effects of vitamin D and calcium supplementation on falls: a randomized controlled trial. J Bone Miner Res 2003; 18 (2): 343-51 (Pubitemid 36125927)
54. Dukas L, Bischoff HA, Lindpaintner LS, et al. Alfacalcidol reduces the number of fallers in a community-dwelling elderly population with a minimumcalcium intake of more than 500mg daily. J Am Geriatr Soc 2004; 52 (2): 230-6 (Pubitemid 38233485)
55. Bunout D, Barrera G, Leiva L, et al. Effects of vitamin D supplementation and exercise training on physical performance in Chilean vitamin D deficient elderly subjects. Exp Gerontol 2006; 41 (8): 746-52 (Pubitemid 44223892)
56. Fang Y, van Meurs JB, d'Alesio A, et al. Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the Rotterdam study. Am J Hum Genet 2005; 77 (5): 807-23 (Pubitemid 41513282)
57. Crofts LA, Hancock MS, Morrison NA, et al. Multiple promoters direct the tissue-specific expression of novel N-terminal variant human vitamin D receptor gene transcripts. Proc Natl Acad Sci USA 1998; 95 (18): 10529-34
58. Faraco JH, Morrison NA, Baker A, et al. ApaI dimorphism at the human vitamin D receptor gene locus. Nucleic Acids Res 1989; 17 (5): 2150 (Pubitemid 19084283)
59. Morrison NA, Yeoman R, Kelly PJ, et al. Contribution of trans-acting factor alleles to normal physiological variability: vitamin D receptor gene polymorphism and circulating osteocalcin. Proc Natl Acad Sci USA 1992; 89 (15): 6665-9
60. Morrison NA, Qi JC, Tokita A, et al. Prediction of bone density from vitamin D receptor alleles. Nature 1994; 367 (6460): 284-7 (Pubitemid 24051146)
61. Ye WZ, Reis AF, Velho G. Identification of a novel Tru9 I polymorphism in the human vitamin D receptor gene. J Hum Genet 2000; 45 (1): 56-7 (Pubitemid 30029659)
62. Arai H, Miyamoto K, Taketani Y, et al. A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 1997; 12 (6): 915-21 (Pubitemid 27225001)
63. McCullough ML, Stevens VL, Diver WR, et al. Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study. Breast Cancer Res 2007; 9 (1): R9
64. Bahat G, Saka B, Erten N, et al. BsmI polymorphism in the vitamin D receptor gene is associated with leg extensor muscle strength in elderly men. Aging Clin Exp Res 2010; 22 (3): 198-205
65. Grundberg E, Brandstrom H, Ribom EL, et al. Genetic variation in the human vitamin D receptor is associated with muscle strength, fat mass and body weight in Swedish women. Eur J Endocrinol 2004; 150 (3): 323-8 (Pubitemid 38443782)
66. Bischoff-Ferrari HA, Borchers M, Gudat F, et al. Vitamin D receptor expression in human muscle tissue decreases with age. J Bone Miner Res 2004; 19 (2): 265-9 (Pubitemid 38116740)
67. Roth SM, Zmuda JM, Cauley JA, et al. Vitamin Dreceptor genotype is associated with fat-free mass and sarcopenia in elderly men. J Gerontol A Biol SciMed Sci 2004; 59 (1): 10-5 (Pubitemid 38082824)
68. Geusens P, Vandevyver C, Vanhoof J, et al. Quadriceps and grip strength are related to vitamin D receptor genotype in elderly nonobese women. J Bone Miner Res 1997; 12 (12): 2082-8 (Pubitemid 27524485)
69. Visser M, Deeg DJ, Lips P. Low vitamin D and high parathyroid hormone levels as determinants of loss of muscle strength and muscle mass (sarcopenia): the Longitudinal Aging Study Amsterdam. J Clin Endocrinol Metab 2003; 88 (12): 5766-72 (Pubitemid 38033048)
70. Flicker L, Mead K, MacInnis RJ, et al. Serum vitamin D and falls in older women in residential care in Australia. J Am Geriatr Soc 2003; 51 (11): 1533-8 (Pubitemid 37409586)
71. Tajima O, Ashizawa N, Ishii T, et al. Interaction of the effects between vitamin D receptor polymorphism and exercise training on bone metabolism. J Appl Physiol 2000; 88 (4): 1271-6 (Pubitemid 30217425)
72. Nakamura O, Ishii T, Ando Y, et al. Potential role of vitaminDreceptor gene polymorphism in determining bone phenotype in young male athletes. J Appl Physiol 2002; 93 (6): 1973-9 (Pubitemid 35379322)
73. Rabon-Stith KM, Hagberg JM, Phares DA, et al. Vitamin Dreceptor FokI genotype influences bone mineral density response to strength training, but not aerobic training. Exp Physiol 2005; 90 (4): 653-61 (Pubitemid 40980167)
74. Diogenes ME, Bezerra FF, Cabello GM, et al. Vitamin D receptor gene FokI polymorphisms influence bone mass in adolescent football (soccer) players. Eur J Appl Physiol 2010; 108 (1): 31-8
75. Chatzipapas C, Boikos S, Drosos GI, et al. Polymorphisms of the vitamin D receptor gene and stress fractures. Horm Metab Res 2009; 41 (8): 635-40
76. Simoneau JA, Bouchard C. Human variation in skeletal muscle fiber-type proportion and enzyme activities. Am J Physiol 1989; 257 (4 Pt 1): E567-72
77. Simoneau JA, Bouchard C. Genetic determinism of fiber type proportion in human skeletal muscle. FASEB J 1995; 9 (11): 1091-5
78. Staron RS, Malicky ES, LeonardiMJ, et al. Muscle hypertrophy and fast fiber type conversions in heavy resistancetrained women. Eur J Appl Physiol Occup Physiol 1990; 60 (1): 71-9 (Pubitemid 20056265)
79. Williamson DL, Gallagher PM, Carroll CC, et al. Reduction in hybrid single muscle fiber proportions with resistance training in humans. J Appl Physiol 2001; 91 (5): 1955-61 (Pubitemid 33015042)
80. Booth FW, Thomason DB. Molecular and cellular adaptation of muscle in response to exercise: perspectives of various models. Physiol Rev 1991; 71 (2): 541-85
81. Gosker HR, van Mameren H, van Dijk PJ, et al. Skeletal muscle fibre-type shifting and metabolic profile in patients with chronic obstructive pulmonary disease. Eur Respir J 2002; 19 (4): 617-25 (Pubitemid 34285157)
82. Bouchard C, Simoneau JA, LortieG, et al. Genetic effects in human skeletal muscle fiber type distribution and enzyme activities. Can J Physiol Pharmacol 1986; 64 (9): 1245-51 (Pubitemid 17201502)
83. Ahmetov II, Mozhayskaya IA, Flavell DM, et al. PPARalpha gene variation and physical performance in Russian athletes. Eur J Appl Physiol 2006; 97 (1): 103-8 (Pubitemid 43949793)
84. Vincent B, De Bock K, Ramaekers M, et al. ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol. Genomics 2007; 32 (1): 58-63
85. Ahmetov II, Druzhevskaya AM, Astratenkova IV, et al. The ACTN3 R577X polymorphism in Russian endurance athletes. Br J Sports Med 2010; 44 (9): 649-52
86. Hanson ED, Ludlow AT, Sheaff AK, et al. ACTN3 genotype does not influence muscle power. Int J Sports Med 2010; 31 (11): 834-8
87. Ruiz JR, Fernandez Del Valle M, Verde Z, et al. ACTN3 R577X polymorphism does not influence explosive leg muscle power in elite volleyball players. Scand J Med Sci Sports. Epub 2010 Jun 18
88. Santiago C, Rodriguez-Romo G, Gomez-Gallego F, et al. Is there an association between ACTN3 R577X polymorphism and muscle power phenotypes in young, non-athletic adults? Scand J Med Sci Sports 2010; 20 (5): 771-8
89. Zempo H, Tanabe K, Murakami H, et al. ACTN3 polymorphism affects thigh muscle area. Int J Sports Med 2010; 31 (2): 138-42
90. Rodriguez-Romo G, Ruiz JR, Santiago C, et al. Does the ACE I/Dpolymorphism, alone or in combination with the ACTN3 R577X polymorphism, influence muscle power phenotypes in young, non-athletic adults? Eur J Appl Physiol 2010; 110 (6): 1099-106
91. Ahmetov II, Hakimullina AM, Popov DV, et al. Association of the VEGFR2 gene His472Gln polymorphism with endurance-related phenotypes. Eur J Appl Physiol 2009; 107 (1): 95-103
92. Jarvinen TA, Jozsa L, Kannus P, et al. Organization and distribution of intramuscular connective tissue in normal and immobilized skeletal muscles: an immunohistochemical, polarization and scanning electron microscopic study. J Muscle Res CellMotil 2002; 23 (3): 245-54 (Pubitemid 35402071)
93. Takala TE VP. Biochemical composition of muscle extracellular matrix: the effect of loading. Scand J Med Sci Sports 2000; 10 (6): 321-5
94. Van Pottelbergh I GS, Nuytinck L, De Paepe A, et al. Association of the type I collagen alpha1 Sp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men. Osteoporos Int 2001; 12 (10): 895-901 (Pubitemid 33086279)
95. Kiel DP, Myers RH, Cupples LA, et al. The BsmI vitamin Dreceptor restriction fragment length polymorphism (bb) influences the effect of calcium intake on bone mineral density. J Bone Miner Res 1997; 12 (7): 1049-57 (Pubitemid 27264218)
96. Jones BH, Thacker SB, Gilchrist J, et al. Prevention of lower extremity stress fractures in athletes and soldiers: a systematic review. Epidemiol Rev 2002; 24 (2): 228-47 (Pubitemid 36553842)
97. Smith DM, Nance WE, Kang KW, et al. Genetic factors in determining bone mass. J Clin Invest 1973; 52 (11): 2800-8
98. Pocock NA, Eisman JA, Hopper JL, et al. Genetic determinants of bone mass in adults: a twin study. J Clin Invest 1987; 80 (3): 706-10 (Pubitemid 18003941)
99. Torgerson DJ, Campbell MK, Thomas RE, et al. Prediction of perimenopausal fractures by bone mineral density and other risk factors. J Bone Miner Res 1996; 11 (2): 293-7 (Pubitemid 26054186)
100. Cummings SR, Nevitt MC, Browner WS, et al. Risk factors for hip fracture in white women: Study of Osteoporotic Fractures Research Group. N Engl J Med 1995; 332 (12): 767-73
101. Zhao L, Zhao M, Fang Q. Spironolactone ameliorates rat pulmonary fibrosis induced by bleomycin A5 [in Chinese]. Zhonghua Jie He He Hu Xi Za Zhi 1998; 21 (5): 300-2
102. Hosoi T, Miyao M, Inoue S, et al. Association study of parathyroid hormone gene polymorphism and bone mineral density in Japanese postmenopausal women. Calcif Tissue Int 1999; 64 (3): 205-8 (Pubitemid 29107236)
103. Van Pottelbergh I, Goemaere S, Kaufman JM. Bioavailable estradiol and an aromatase gene polymorphism are determinants of bone mineral density changes in men over 70 years of age. J Clin Endocrinol Metab 2003; 88 (7): 3075-81 (Pubitemid 36877475)
104. Salmen T, Heikkinen AM, Mahonen A, et al. Relation of aromatase gene polymorphism and hormone replacement therapy to serum estradiol levels, bone mineral density, and fracture risk in early postmenopausal women. Ann Med 2003; 35 (4): 282-8 (Pubitemid 36791696)
105. Kobayashi S, Inoue S, Hosoi T, et al. Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 1996; 11 (3): 306-11 (Pubitemid 26076380)
106. Mizunuma H, Hosoi T, Okano H, et al. Estrogen receptor gene polymorphism and bone mineral density at the lumbar spine of pre-and postmenopausal women. Bone 1997; 21 (5): 379-83 (Pubitemid 27485305)
107. Feng D IH, Yamamoto S, Hosoi T, et al. Association between bone loss and promoter polymorphism in the IL-6 gene in elderly Japanese women with hip fracture. J Bone Miner Metab 2003; 21 (4): 225-8 (Pubitemid 41184288)
108. Liu XH LY, Jiang DK, Li YM, et al. No evidence for linkage and/or association of human alpha2-HS glycoprotein gene with bone mineral density variation in Chinese nuclear families. Calcif Tissue Int 2003; 73 (3): 244-50 (Pubitemid 37152885)
109. Sainz J, Van Tornout JM, Loro ML, et al. Vitamin Dreceptor gene polymorphisms and bone density in prepubertal American girls of Mexican descent. N Engl J Med 1997; 337 (2): 77-82 (Pubitemid 27284392)
110. Ferrari S, Rizzoli R, Manen D, et al. Vitamin D receptor gene start codon polymorphisms (FokI) and bone mineral density: interaction with age, dietary calcium, and 3'-end region polymorphisms. J Bone Miner Res 1998; 13 (6): 925-30 (Pubitemid 28265270)
111. Cooper GS, Umbach DM. Are vitamin D receptor polymorphisms associated with bone mineral density? A metaanalysis. J Bone Miner Res 1996; 11 (12): 1841-9 (Pubitemid 26425675)
112. Ferrari SL, Rizzoli R. Gene variants for osteoporosis and their pleiotropic effects in aging. Mol Aspects Med 2005; 26 (3): 145-67 (Pubitemid 40462024)
113. Thakkinstian A, D'Este C, Attia J. Haplotype analysis of VDR gene polymorphisms: a meta-analysis. Osteoporos Int 2004; 15 (9): 729-34 (Pubitemid 39222656)
114. Thakkinstian A, D'Este C, Eisman J, et al. Meta-analysis of molecular association studies: vitamin D receptor gene polymorphisms and BMD as a case study. J Bone Miner Res 2004; 19 (3): 419-28 (Pubitemid 38787397)
115. Gong G, Stern HS, Cheng SC, et al. The association of bone mineral density with vitamin D receptor gene polymorphisms. Osteoporos Int 1999; 9 (1): 55-64 (Pubitemid 29086165)
116. Zofkova I. Hormonal aspects of the muscle-bone unit. Physiol Res 2008; 57 Suppl. 1: S159-69
117. Young LE, Rogers K, Wood JL. Left ventricular size and systolic function in thoroughbred racehorses and their relationships to race performance. J Appl Physiol 2005; 99 (4): 1278-85 (Pubitemid 43014330)
118. Koren MJ, Devereux RB, Casale PN, et al. Relation of left ventricularmass and geometry to morbidity and mortality in uncomplicated essential hypertension. Ann Intern Med 1991; 114 (5): 345-52
119. Levy D, Garrison RJ, Savage DD, et al. Prognostic implications of echocardiographically determined left ventricular mass in the Framingham Heart Study. N Engl J Med 1990; 322 (22): 1561-6 (Pubitemid 20176696)
120. Vakili BA, Okin PM, Devereux RB. Prognostic implications of left ventricular hypertrophy. Am Heart J 2001; 141 (3): 334-41 (Pubitemid 32200259)
121. Buhl R, Ersbøll AK, Eriksen L, et al. Changes over time in echocardiographic measurements in young standardbred racehorses undergoing training and racing and association with racing performance. J Am Vet Med Assoc 2005; 226 (11): 1881-7 (Pubitemid 40746064)
122. Issemann I, Green S. Activation of a member of the steroid hormone receptor superfamily by peroxisome proliferators. Nature 1990; 347 (6294): 645-50
123. Fruchart JC, Duriez P, Staels B. Peroxisome proliferatoractivated receptor-alpha activators regulate genes governing lipoprotein metabolism, vascular inflammation and atherosclerosis. Curr Opin Lipidol 1999; 10 (3): 245-57 (Pubitemid 29405915)
124. Sack MN, Rader TA, Park S, et al. Fatty acid oxidation enzyme gene expression is downregulated in the failing heart. Circulation 1996; 94 (11): 2837-42 (Pubitemid 26411749)
125. Barger PM, Brandt JM, Leone TC, et al. Deactivation of peroxisome proliferator-activated receptor-alpha during cardiac hypertrophic growth. J Clin Invest 2000; 105 (12): 1723-30 (Pubitemid 30421753)
126. Binas B, Danneberg H, McWhir J, et al. Requirement for the heart-type fatty acid binding protein in cardiac fatty acid utilization. FASEB J 1999; 13 (8): 805-12 (Pubitemid 29220693)
127. Chiu HC, Kovacs A, Ford DA, et al. A novel mouse model of lipotoxic cardiomyopathy. J Clin Invest 2001; 107 (7): 813-22 (Pubitemid 32274034)
128. Jamshidi Y, Montgomery HE, Hense HW, et al. Peroxisome proliferator: activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertension. Circulation 2002; 105 (8): 950-5 (Pubitemid 34184573)
129. Schunkert H, Hengstenberg C, Holmer SR, et al. Lack of association between a polymorphism of the aldosterone synthase gene and left ventricular structure. Circulation 1999; 99 (17): 2255-60 (Pubitemid 29201131)
130. Reinhard C, Meyer B, Fuchs H, et al. Genomewide linkage analysis identifies novel genetic loci for lung function in mice. Am J Respir Crit Care Med 2005; 171 (8): 880-8 (Pubitemid 40562719)
131. Lewiiter FI, Tager IB, McGue M, et al. Genetic and environmental determinants of level of pulmonary function. Am J Epidemiol 1984; 120 (4): 518-30 (Pubitemid 14041859)
132. Chen Y, Rennie DC, Lockinger LA, et al. Major genetic effect on forced vital capacity: the Humboldt Family Study. Genet Epidemiol 1997; 14 (1): 63-76 (Pubitemid 27088134)
133. Coultas DB, Hanis CL, Howard CA, et al. Heritability of ventilatory function in smoking and nonsmoking New Mexico Hispanics. Am Rev Respir Dis 1991; 144 (4): 770-5
134. Joost O, Wilk JB, Adrienne Cupples L, et al. Genetic loci influencing lung function: a genomewide scan in the Framingham Study. Am J Respir Crit Care Med 2002; 165 (6): 795-9 (Pubitemid 34229649)
135. Palmer LJ, Knuiman MW, Divitini ML, et al. Familial aggregation and heritability of adult lung function: results from the Busselton Health Study. Eur Respir J 2001; 17 (4): 696-702 (Pubitemid 32492559)
136. Dempsey JA, Johnson BD, Saupe KW. Adaptations and limitations in the pulmonary system during exercise. Chest 1990; 97 (3 Suppl.): 81S-7S (Pubitemid 20082306)
137. Dempsey JA, Wagner PD. Exercise-induced arterial hypoxemia. J Appl Physiol 1999; 87 (6): 1997-2006
138. Gavin TP, Stager JM. The effect of exercise modality on exercise-induced hypoxemia. Respir Physiol 1999; 115 (3): 317-23 (Pubitemid 29255899)
139. Nielsen HB. Arterial desaturation during exercise in man: implication for O-2 uptake and work capacity. Scand JMed Sci Sports 2003; 13 (6): 339-58 (Pubitemid 37494412)
140. Holmberg HC, Rosdahl H, Svedenhag J. Lung function, arterial saturation and oxygen uptake in elite cross country skiers: influence of exercise mode. Scand J Med Sci Sports 2007; 17 (4): 437-44
141. Doherty M, Dimitriou L. Comparison of lung volume in Greek swimmers, land based athletes, and sedentary controls using allometric scaling. Br J Sports Med 1997; 31 (4): 337-41 (Pubitemid 27528731)
142. Lippi G, Longo UG, Maffulli N. Genetics and sports. Br Med Bull 2010; 93: 27-47
143. Wilcoxon JS, Nadolski GJ, Samarut J, et al. Behavioral inhibition and impaired spatial learning and memory in hypothyroid mice lacking thyroid hormone receptor alpha. Behav Brain Res 2007; 177 (1): 109-16 (Pubitemid 46075154)
144. Bryan A, Hutchison KE, Seals DR, et al. A transdisciplinary model integrating genetic, physiological, and psychological correlates of voluntary exercise. Health Psychol 2007; 26 (1): 30-9 (Pubitemid 46072022)
145. Maliuchenko NV, Sysoeva OV, Vediakov AM, et al. Effect of 5HTT genetic polymorphism on aggression in athletes [in Russian]. Zh Vyssh Nerv Deiat Im I P Pavlova 2007; 57 (3): 276-81
146. Tschenett A, Singewald N, Carli M, et al. Reduced anxiety and improved stress coping ability in mice lackingNPY-Y2 receptors. Eur J Neurosci 2003; 18 (1): 143-8 (Pubitemid 36920855)
147. Gerlai R, Roder JC, Hampson DR. Altered spatial learning and memory in mice lacking the mGluR4 subtype of metabotropic glutamate receptor. Behav Neurosci 1998; 112 (3): 525-32 (Pubitemid 28309145)
148. Gimenez-Llort L, Masino SA, Diao L, et al. Mice lacking the adenosine A1 receptor have normal spatial learning and plasticity in the CA1 region of the hippocampus, but they habituate more slowly. Synapse 2005; 57 (1): 8-16 (Pubitemid 40756330)
149. Trejo JL, Llorens-Martin MV, Torres-Aleman I. The effects of exercise on spatial learning and anxiety-like behavior are mediated by an IGF-I-dependent mechanism related to hippocampal neurogenesis. Mol Cell Neurosci 2008; 37 (2): 402-11
150. Mogil JS, Lichtensteiger CA, Wilson SG. The effect of genotype on sensitivity to inflammatory nociception: characterization of resistant (A/J) and sensitive (C57BL/6J) inbred mouse strains. Pain 1998; 76 (1-2): 115-25 (Pubitemid 28304947)
151. Foulkes T, Wood JN. Pain genes. PLoS Genet 2008; 4 (7): e1000086
152. Priest BT, Murphy BA, Lindia JA, et al. Contribution of the tetrodotoxin-resistant voltage-gated sodium channel NaV1.9 to sensory transmission and nociceptive behavior. Proc Natl Acad Sci USA 2005; 102 (26): 9382-7 (Pubitemid 40923572)
153. Nassar MA, Stirling LC, Forlani G, et al. Nociceptorspecific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain. Proc Natl Acad Sci USA 2004; 101 (34): 12706-11 (Pubitemid 39122087)
154. Zimmermann K, Leffler A, Babes A, et al. Sensory neuron sodium channel Nav1.8 is essential for pain at low temperatures. Nature 2007; 447 (7146): 855-8 (Pubitemid 46920141)
155. Cox JJ, Reimann F, Nicholas AK, et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature 2006; 444 (7121): 894-8 (Pubitemid 46024997)
156. CollinsM, Xenophontos SL, Cariolou MA, et al. The ACE gene and endurance performance during the South African Ironman Triathlons. Med Sci Sports Exerc 2004; 36 (8): 1314-20 (Pubitemid 39014814)
157. Costa A, Silva A, Garrido N, et al. Association between ACE D allele and elite short distance swimming. Eur J Appl Physiol 2009; 106 (6): 785-90
158. Gayagay G, Yu B, Hambly B, et al. Elite endurance athletes and the ACE I allele: the role of genes in athletic performance. Hum Genet 1998; 103 (1): 48-50 (Pubitemid 28398384)
159. Jones A, Woods DR. Skeletal muscle RAS and exercise performance. Int J Biochem Cell Biol 2003; 35 (6): 855-66 (Pubitemid 36379327)
160. Williams AG, RaysonMP, JubbM, et al. TheACE gene and muscle performance [letter]. Nature 2000; 403 (6770): 614 (Pubitemid 30103990)
161. Woods DR, Humphries SE, Montgomery HE. The ACE I/D polymorphism and human physical performance. Trends Endocrinol Metab 2000; 11 (10): 416-20
162. Moran CN, Yang N, BaileyMES, et al. Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet 2006; 15 (1): 88-93 (Pubitemid 44921671)
163. Yang N, MacArthur DG, Gulbin JP, et al. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 2003; 73 (3): 627-31 (Pubitemid 37076274)
164. Ahmetov II, Williams AG, Popov DV, et al. The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes. Hum Genet 2009; 126 (6): 751-61
165. Williams AG, Folland JP. Similarity of polygenic profiles limits the potential for elite human physical performance. J Physiol 2008; 586 (1): 113-21
166. Kannus P, Natri A. Etiology and pathophysiology of tendon ruptures in sports. Scand J Med Sci Sports 1997; 7 (2): 107-12 (Pubitemid 127521858)
167. Gwilym SE, Watkins B, Cooper CD, et al. Genetic influences in the progression of tears of the rotator cuff. J Bone Joint Surg Br 2009; 91 (7): 915-7
168. Harvie P, Ostlere SJ, Teh J, et al. Genetic influences in the aetiology of tears of the rotator cuff: sibling risk of a fullthickness tear. J Bone Joint Surg Br 2004; 86 (5): 696-700 (Pubitemid 39077218)
169. Sharma P, Maffulli N. Tendon injury and tendinopathy: healing and repair. J Bone Joint Surg Am 2005; 87 (1): 187-202 (Pubitemid 40094160)
170. Mokone GG, Schwellnus MP, Noakes TD, et al. The COL5A1 gene and Achilles tendon pathology. Scand J Med Sci Sports 2006; 16 (1): 19-26 (Pubitemid 43433301)
171. Mokone GG, Gajjar M, September AV, et al. The guaninethymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with achilles tendon injuries. Am J Sports Med 2005; 33 (7): 1016-21 (Pubitemid 40917551)
172. Waggett AD, Ralphs JR, Kwan AP, et al. Characterization of collagens and proteoglycans at the insertion of the human Achilles tendon. Matrix Biol 1998; 16 (8): 457-70 (Pubitemid 28132525)
173. Vogel KG. What happens when tendons bend and twist? Proteoglycans. J Musculoskelet Neuronal Interact, 2004; 4 (2): 202-3 (Pubitemid 38877777)
174. Lysholm J, Wiklander J. Injuries in runners. Am J Sports Med 1987; 15 (2): 168-71 (Pubitemid 17061170)
175. Knobloch K, Yoon U, Vogt PM. Acute and overuse injuries correlated to hours of training in master running athletes. Foot Ankle Int 2008; 29 (7): 671-6 (Pubitemid 351957227)
176. Jones GC, Corps AN, Pennington CJ, et al. Expression profiling of metalloproteinases and tissue inhibitors of metalloproteinases in normal and degenerate human achilles tendon. Arthritis Rheum 2006; 54 (3): 832-42
177. Karousou E, Ronga M, Vigetti D, et al. Collagens, proteoglycans, MMP-2, MMP-9 and TIMPs in human achilles tendon rupture. Clin Orthop Relat Res 2008; 466 (7): 1577-82
178. Corps AN, Jones GC, Harrall RL, et al. The regulation of aggrecanase ADAMTS-4 expression in human Achilles tendon and tendon-derived cells. Matrix Biol 2008; 27 (5): 393-401
179. Pufe T, Petersen WJ, Mentlein R, et al. The role of vasculature and angiogenesis for the pathogenesis of degenerative tendons disease. Scand JMed Sci Sports 2005; 15 (4): 211-22 (Pubitemid 41032385)
180. Petersen W, Pufe T, Zantop T, et al. Expression of VEGFR-1 and VEGFR-2 in degenerative Achilles tendons. Clin Orthop Relat Res 2004; (420): 286-91 (Pubitemid 38436590)
181. Posthumus M, September AV, Schwellnus MP, et al. Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls. J Sci Med Sport 2009; 12 (1): 184-9
182. Bray MS, Hagberg JM, Perusse L, et al. The human gene map for performance and health-related fitness phenotypes: the 2006-2007 update. Med Sci Sports Exerc 2009; 41 (1): 35-73