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Mitochondrial Haplogroups Associated with Elite Kenyan Athlete Status

SCOTT, ROBERT A.1,2; FUKU, NORIYUKI3; ONYWERA, VINCENT O.1,4; BOIT, MIKE1,4; WILSON, RICHARD H.1,2; TANAKA, MASASHI3; H. GOODWIN, WILLIAM1,5; PITSILADIS, YANNIS P.1,2

Medicine & Science in Sports & Exercise: January 2009 - Volume 41 - Issue 1 - pp 123-128
doi: 10.1249/MSS.0b013e31818313a2
Basic Sciences

The maternal inheritance of mitochondrial DNA (mtDNA) has enabled construction of detailed phylogenies. Analysis of key polymorphisms from these phylogenies allows mtDNA to be assigned to haplogroups, which have been associated with elite endurance performance.

Purpose: To compare the frequencies of mtDNA haplogroups found in elite Kenyan athletes with those in the general Kenyan population.

Methods: DNA samples were obtained from 221 national level Kenyan athletes (N), 70 international Kenyan athletes (I), and 85 members of the general Kenyan population (C). mtDNA haplogroups were classified by sequencing 340 bases of hypervariable section (HVS I) and by genotyping known restriction sites. Frequency differences between groups were assessed using exact tests of population differentiation.

Results: The haplogroup distribution of national (P = 0.023) and international athletes (P < 0.001) differed significantly from controls, with international athletes showing a greater proportion of L0 haplogroups (C = 15%, N = 18%, I = 30%) and lower proportion of L3* haplogroups (C = 48%, N = 36%, I = 26%). Although a high number of international athletes originated from the Rift Valley province relative to controls (C = 20%, N = 65%, I = 81%), subjects from this province did not differ in haplogroup distribution from other regions (P = 0.23). Nor did Bantu subjects differ from Nilotic (P = 0.12) despite an overrepresentation of Nilotic languages among the athletes.

Conclusions: International athletes differed in their mtDNA haplogroup distribution relative to the general Kenyan population. They displayed an excess of L0 haplogroups and a dearth of L3* haplogroups. These findings suggest that mtDNA haplogroups are influential in elite Kenyan distance running, although population stratification cannot be ruled out.

1International Centre for East African Running Science (ICEARS); 2Integrative & Systems Biology, Faculty of Biomedical and Life Sciences (FBLS), University of Glasgow, Glasgow, UNITED KINGDOM; 3Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology (TMIG), Tokyo, JAPAN; 4Kenyatta University, Nairobi, KENYA; and 5University of Central Lancashire, Preston, UNITED KINGDOM

Address for correspondence: Yannis P. Pitsiladis, Ph.D., International Centre for East African Running Science (ICEARS), Faculty of Biomedical and Life Sciences (IBLS), University of Glasgow, Glasgow, G12 8QQ, United Kingdom; E-mail: Y.Pitsiladis@bio.gla.ac.uk.

Submitted for publication December 2007.

Accepted for publication June 2008.

© 2009 American College of Sports Medicine