title: Genomic haplotype within the Peroxisome Proliferator-Activated Receptor Delta (PPARD) gene is associated with elite athletic status.
abstract: 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 < 0.000001), suggesting that harboring this specific haplotype is unfavorable for becoming an elite athlete. These results help to identify which genetic profiles may contribute to elite athletic performance, specifically the role of variants within the PPARD gene, and may be useful in talent identification or optimizing the response to training.
authors.affiliation: Faculty of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Maciejewska-Karlowska
authors.forename: E D
authors.initials: ED
authors.lastname: Hanson
authors.forename: M
authors.initials: M
authors.lastname: Sawczuk
authors.forename: P
authors.initials: P
authors.lastname: Cieszczyk
authors.forename: N
authors.initials: N
authors.lastname: Eynon
mesh_terms: D000328:Adult; D054874:Athletic Performance / Q000502:physiology*; D004734:Energy Metabolism / Q000235:genetics; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D053580:Muscle Strength / Q000235:genetics; D047494:PPAR delta / Q000235:genetics*; D010807:Physical Endurance / Q000235:genetics*; D011110:Polymorphism, Genetic; D055815:Young Adult
chemical_list: D047494:PPAR delta
keywords: exercise; gene variants; genes; phenotype; runners; sports