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Mitochondrial DNA variation is associated with elite athletic status in the P olish population
Author(s) -
Maruszak A.,
Adamczyk J. G.,
Siewierski M.,
Sozański H.,
Gajewski A.,
Żekanowski C.
Publication year - 2014
Publication title -
scandinavian journal of medicine and science in sports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.575
H-Index - 115
eISSN - 1600-0838
pISSN - 0905-7188
DOI - 10.1111/sms.12012
Subject(s) - mitochondrial dna , human mitochondrial dna haplogroup , haplogroup , odds ratio , population , athletes , haplotype , confidence interval , genetics , biology , medicine , physical therapy , gene , allele , environmental health
There is mounting evidence that genetic factors located in mitochondrial and nuclear genomes influence sport performance. Certain mitochondrial haplogroups and polymorphisms were associated with the status of elite athlete, especially in endurance performance. The aim of our study was to assess whether selected mitochondrial DNA (mtDNA) and nuclear DNA variants are associated with elite athlete performance in a group of 395 elite P olish athletes (213 endurance athletes and 182 power athletes) and 413 sedentary controls. Our major finding was that the mtDNA haplogroup H and HV cluster influence endurance performance at the O lympic/ W orld C lass level of performance ( P  = 0.018 and P  = 0.0185, respectively). We showed that two polymorphisms located in the mtDNA control region were associated with achieving the elite performance level either in the total athlete's group as compared with controls (m.16362 C , 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.16080 G , 2.35% vs 0%, respectively, P  = 0.004). Our results indicate that mtDNA variability affects the endurance capacity rather than the power one. We also propose that mtDNA haplogroups and subhaplogroups, as well as individual mtDNA polymorphisms favoring endurance performance, could be population‐specific, reflecting complex cross‐talk between nuclear and mitochondrial genomes.

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