Genomic haplotype within the Peroxisome Proliferator-Activated Receptor Delta (PPARD) gene is associated with elite athletic status

Peroxisome proliferator‐activated receptor delta (PPARδ; encoded by the PPARD gene) plays a role in energy metabolism and mitochondrial function. We have investigated the distribution of PPARD rs2267668, rs2016520 and rs1053049 polymorphisms, individually and in haplotype, in a cohort of 660 elite a...

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Bibliographic Details
Published in:Scandinavian journal of medicine & science in sports 2014-06, Vol.24 (3), p.e148-e155
Main Authors: Maciejewska-Karlowska, A., Hanson, E. D., Sawczuk, M., Cieszczyk, P., Eynon, N.
Format: Article
Language:English
Subjects:
Adult
Athletes
Athletic Performance - physiology
Energy Metabolism - genetics
exercise
Female
gene variants
genes
Genomics
Haplotypes
Humans
Male
Muscle Strength - genetics
phenotype
Physical Endurance - genetics
Polymorphism, Genetic
PPAR delta - genetics
runners
sports
Sports medicine
Young Adult
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Summary:Peroxisome proliferator‐activated receptor delta (PPARδ; encoded by the PPARD gene) plays a role in energy metabolism and mitochondrial function. We have investigated the distribution of PPARD rs2267668, rs2016520 and rs1053049 polymorphisms, individually and in haplotype, in a cohort of 660 elite athletes which was subdivided into four different groups based on the different metabolic demands of their respective sports and 704 healthy controls. PPARD rs2016529 and rs1053049 were individually associated with overall elite athletic performance (P = 0.00002; and P = 0.0002) and also with athletes grouped as strength endurance (P = 0.00008; and P = 0.0003). Furthermore, PPARD A/C/C haplotype (rs2267668/rs2016520/rs1053049) was significantly underrepresented in all athletes and each subgroup of athletes when compared with controls (P 
ISSN:0905-7188
1600-0838
DOI:10.1111/sms.12126