Abstract
Favourable genetic endowment has been proposed as part of the explanation for the success of East African endurance athletes, but no evidence has yet been presented. The Y chromosome haplogroup distribution of elite Ethiopian athletes (n=62) was compared with that of the general Ethiopian population (n=95) and a control group from Arsi (a region producing a disproportionate number of athletes; n=85). Athletes belonged to three groups: marathon runners (M; n=23), 5–km to 10–km runners (5–10K; n=21) and other track and field athletes (TF; n=18). DNA was extracted from buccal swabs and haplogroups were assigned after the typing of binary markers in multiplexed minisequencing reactions. Frequency differences between groups were assessed by using contingency exact tests and showed that Y chromosome haplogroups are not distributed amongst elite Ethiopian endurance runners in the same proportions as in the general population, with statistically significant (P<0.05) differences being found in four of the individual haplogroups. The geographical origins and languages of the athletes and controls suggest that these differences are less likely to be a reflection of population structure and that Y chromosome haplogroups may play a significant role in determining Ethiopian endurance running success.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Baker J, Horton S (2003) East African running dominance revisited: a role for stereotype threat? Br J Sports Med 37:553–555
Billat V, Lepretre PM, Heugas AM, Laurence MH, Salim D, Koralsztein JP (2003) Training and bioenergetic characteristics in elite male and female Kenyan runners. Med Sci Sports Exerc 35:297–304
Blanco P, Sargent CA, Boucher CA, Mitchell M, Affara NA (2000) Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain. Mamm Genome 11:906–914
Fernandes S, Paracchini S, Meyer LH, Floridia G, Smith CT, Vogt PH (2004) A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet 74:180–187
Gayagay G, Yu B, Hambly B, Boston T, Hahn A, Celermajer DS, Trent RJ (1998) Elite endurance athletes and the ACE I allele—the role of genes in athletic performance. Hum Genet 103:48–50
Guo SW, Thompson EA (1992) Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48:361–372
Hamilton B (2000) East African running dominance: what is behind it? Br J Sports Med 34:391–394
Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598–612
Kawaguchi TK, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279–286
Larsen HB (2003) Kenyan dominance in distance running. Comp Biochem Physiol A Mol Integr Physiol 136:161–170
Manners J (1997) Kenya’s running tribe. Sports Hist 17:14–27
Myerson S, Hemingway H, Budget R, Martin J, Humphries S, Montgomery H (1999) Human angiotensin I-converting enzyme gene and endurance performance. J Appl Physiol 87:1313–1316
Nazarov IB, Woods DR, Montgomery HE, Shneider OV, Kazakov VI, Tomilin NV, Rogozkin VA (2001) The angiotensin converting enzyme I/D polymorphism in Russian athletes. Eur J Hum Genet 9:797–801
Paracchini S, Arredi B, Chalk R, Tyler-Smith C (2002) Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry. Nucleic Acids Res 30:e27
Perusse L, Rankinen T, Rauramaa R, Rivera MA, Wolfarth B, Bouchard C (2003) The human gene map for performance and health-related fitness phenotypes: the 2002 update. Med Sci Sports Exerc 35:1248–1264
Previderé C, Stuppia L, Gatta V, Fattorini P, Palka G, Tyler-Smith C (1999) Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations. Eur J Hum Genet 7:733–736
Raymond M, Rousset F (1995a) An exact test for population differentiation. Evolution 49:1280–1283
Raymond M, Rousset F (1995b) Genepop (version-1.2)—population-genetics software for exact tests and ecumenicism. J Hered 86:248–249
Repping S, Skaletsky H, Brown L, Daalen SKM van, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, Vries JWA de, Oates RD, Silber S, Veen F van der, Page DC, Rozen S (2003) Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 35:247–251
Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ (1992) The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet 50:303–316
Saltin B, Kim CK, Terrados N, Larsen H, Svedenhag J, Rolf CJ (1995a) Morphology, enzyme activities and buffer capacity in leg muscles of Kenyan and Scandinavian runners. Scand J Med Sci Sports 5:222–230
Saltin B, Larsen H, Terrados N, Bangsbo J, Bak T, Kim CK, Svedenhag J, Rolf CJ (1995b) Aerobic exercise capacity at sea level and at altitude in Kenyan boys, junior and senior runners compared with Scandinavian runners. Scand J Med Sci Sports 5:209–221
Scott RA, Georgiades E, Wilson RH, Goodwin WH, Wolde B, Pitsiladis YP (2003) Demographic characteristics of elite Ethiopian endurance runners. Med Sci Sports Exerc 35:1727–1732
Semino O, Santachiara-Benerecetti AS, Falaschi F, Cavalli-Sforza LL, Underhill PA (2002) Ethiopians and Khoisan share the deepest clades of the human Y-chromosome phylogeny. Am J Hum Genet 70:265–268
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R, McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S, Page DC (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825–837
Underhill PA, Shen PD, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonne-Tamir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd JR, Mehdi SQ, Seielstad MT, Wells RS, Piazza A, Davis RW, Feldman MW, Cavalli-Sforza LL, Oefner PJ (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26:358–361
Woods D, Hickman M, Jamshidi Y, Brull D, Vassiliou V, Jones A, Humphries S, Montgomery H (2001) Elite swimmers and the D allele of the ACE I/D polymorphism. Hum Genet 108:230–232
Y Chromosome Consortium (2002) A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 12:339–348
Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K (2003) ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 73:627–631
Acknowledgements
The authors acknowledge the help of Elena Bosch in designing SNaPshot multiplexes and the invaluable assistance of the Ethiopian Olympic Committee, Ethiopian Athletics Federation, and Kotebe College. The Royal Society, the Carnegie Trust for the Universities of Scotland, and the Wellcome Trust are gratefully acknowledged for part-funding this research. M.A.J. was supported by a Wellcome Trust Senior Fellowship in Basic Biomedical Science (grant no. 057559). The co-operation of all subjects is greatly appreciated.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Moran, C.N., Scott, R.A., Adams, S.M. et al. Y chromosome haplogroups of elite Ethiopian endurance runners. Hum Genet 115, 492–497 (2004). https://doi.org/10.1007/s00439-004-1202-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00439-004-1202-y