A study on Finnish endurance athletes (
Niemi and Majamaa (2005)) showed that the frequencies of mtDNA haplogroups differed significantly between sprint and endurance athletes. Most notably,
none of the endurance athletes belonged to haplogroup K or subhaplogroup J2, both of which have previously been associated with longevity.
A similar study (
Maruszak 2014) analysed the mtDNA of 395 elite Polish athletes (213 endurance athletes and 182 power athletes) and 413 sedentary controls and found that mtDNA
haplogroup H and HV cluster influence endurance performance at the Olympic/World Class level of performance (P = 0.018 and P = 0.0185, respectively).
Based on the percentages in the elite vs sedentary groups in the supplementary data, it appears that haplogroups
I, K, V and W are less common among athletes, while HV, H, R0, U and X are more common. If we break down the results between endurance athletes vs power athletes, haplogroups
H and X displays an overwhelming association with endurance types. Haplogroup H represented 50% of endurance athletes vs 42.78% for power athletes and 44.75% in sedentary controls, while haplogroup X was found in 1.9% of endurance types vs 1.1% of power types and 1.2% of controls.
R0/HV and W are the most overrepresented among power athletes. R0/HV scored 2.7% for power vs 1.8% for endurance. Haplogroup W was found in 4.4% of power types vs only 1.4% of endurance types, with controls in the middle at 3.5%. Haplogroup U was slightly more common among power athletes (21.7%) than endurance ones (19%), but considerably more than in controls (17.5%).
This study did not find any difference in frequency between athletes and controls for haplogroups N1/I, J and T, although some subclades contain mutations associated with greater athletic performance. Haplogroup K was the only one that was much less common among athletes (3%) than sedentary controls (6%).
The authors reported that two mtDNA mutations were associated with achieving the elite performance level either in the total athlete's group as compared with controls (m.
16362C, 3.8% vs 9.2%, respectively, P = 0.0025, odds ratio = 0.39, 95% confidence interval: 0.21-0.72), or in the endurance athletes as compared with controls (m.
16080G, 2.35% vs 0%, respectively, P = 0.004).
-
16362C defines haplogroups
I1c, J1c2j, J2b1a1a, K1a1c, K1a5a, K1d, K1e, K1f, HV1d,
H1b1 (subclades a, b, c, d and h only), H1c3b, H1bv1, H3ak,
H6,
H8, H13b, H20a1a, R0a'b, T1a13, T2b16, T2i, U1a1d,
U2e, U3b2b, U4a2c1, U4a3, U4b1a1a1, U5a1a1c, U5a1b3, U5a1b4, U5a2e, U5b2b1a, U6a3e, V19 and
W5a.
-
16080G defines haplogroup H1b2 only.
Eynon et al. 2011 reviewed the association between certain mtDNA lineages and aerobic performance, characterized by maximal oxygen uptake (V̇o2max). Here is a summary.
Castro et al. (2007) found that mtDNA
haplogroup T is negatively associated with elite endurance athletic status.
Marcuello et al. (2008) found that
haplogroup J was related with a lower efficiency of electron transport chain (ETC), diminished ATP and ROS production, and lower V̇o2max.
Martínez-Redondo et al. (2010) confirmed that
haplogroup H had the highest VO2max of any European haplogroup (but with significantly higher mitochondrial oxidative damage), while
haplogroup J had the lowest. They point out that the variations in VO(2max) can explain some reported associations between mitochondrial haplogroups and mtOD with longevity, sperm motility, premature aging and susceptibility to different pathologies.
Tamura et al. (2010) reported that the m.5178C genotype may be favorable for endurance running performance. However that polymorphism does not define any European haplogroup, but only the East Asian and Amerindian
haplogroup D.
Mikami et al. (2010) reported that
haplogroups G1 and F are associated with elite endurance/middle-power and sprint/power athletic status, respectively.
Murakami et al. (2002) had found that associations for V̇o2max at pretraining with sites 16298, 16325, and 199 and for the training responsiveness of V̇o2max with sites 16223 and 16362. These polymorphisms are found in:
-
199C : J1b1a2, J1b5a, K1a4a1c1, K1a11, K1b1a1a, K1b1a1b, N1a1'2 (including all haplogroup I), N2a, T2b3d, U2d, U5a1f1a, U5b1d1b, W3a1c, W3a1d, W3b,
-
16298C : HV0, H6a1a8, T2f1a
-
16325C : H1an2, H5g, H6b2, H104a, R0a2k1, T1a1m, T1a8a, T3, U5b2a1b
-
16223T : all haplogroups except R (HV, H, V, J, T, U, K), so essentially I, W and X. Back mutations from R happened in U4a2b and K1a1b1d.
-
16362C : see above