title: Elite athletes' genetic predisposition for altered risk of complex metabolic traits.
abstract: BACKGROUND
  Genetic variants may predispose humans to elevated risk of common metabolic morbidities such as obesity and Type 2 Diabetes (T2D). Some of these variants have also been shown to influence elite athletic performance and the response to exercise training. We compared the genotype distribution of five genetic Single Nucleotide Polymorphisms (SNPs) known to be associated with obesity and obesity co-morbidities (IGF2BP2 rs4402960, LPL rs320, LPL rs328, KCJN rs5219, and MTHFR rs1801133) between athletes (all male, n = 461; endurance athletes n = 254, sprint/power athletes n = 207), and controls (all male, n = 544) in Polish and Russian samples. We also examined the association between these SNPs and the athletes' competition level ('elite' and 'national' level). Genotypes were analysed by Single-Base Extension and Real-Time PCR. Multinomial logistic regression analyses were conducted to assess the association between genotypes and athletic status/competition level.
  
  
  RESULTS
  IGF2BP2 rs4402960 and LPL rs320 were significantly associated with athletic status; sprint/power athletes were twice more likely to have the IGF2BP2 rs4402960 risk (T) allele compared to endurance athletes (OR = 2.11, 95% CI = 1.03-4.30, P <0.041), and non-athletic controls were significantly less likely to have the T allele compared to sprint/power athletes (OR = 0.62, 95% CI =0.43-0.89, P <0.0009). The control group was significantly more likely to have the LPL rs320 risk (G) allele compared to endurance athletes (OR = 1.26, 95% CI = 1.05-1.52, P <0.013). Hence, endurance athletes were the "protected" group being significantly (p < 0.05) less likely to have the risk allele compared to sprint/power athletes (IGF2BP2 rs4402960) and significantly (p < 0.05) less likely to have the risk allele compared to controls (LPL rs320). The other 3 SNPs did not show significant differences between the study groups.
  
  
  CONCLUSIONS
  Male endurance athletes are less likely to have the metabolic risk alleles of IGF2BP2 rs4402960 and LPL rs320, compared to sprint/power athletes and controls, respectively. These results suggest that some SNPs across the human genome have a dual effect and may predispose endurance athletes to reduced risk of developing metabolic morbidities, whereas sprint/power athletes might be predisposed to elevated risk.
authors.affiliation: Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Melbourne, Australia, , VIC, 8001. lauren.banting@vu.edu.au.
authors.forename: Lauren K
authors.initials: LK
authors.lastname: Banting
authors.affiliation: Ural State University of Physical Culture, Chelyabinsk, Russia. v.p.pushkarev@gmail.com.
authors.forename: Vladimir P
authors.initials: VP
authors.lastname: Pushkarev
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland. cieszczyk@poczta.onet.pl.
authors.forename: Pawel
authors.initials: P
authors.lastname: Cieszczyk
authors.affiliation: Academy of Physical Education and Sport, Department of Sport Education, Gdansk, Poland. olazarebska@o2.pl.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Zarebska
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland. maciejewska.us@wp.pl.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Maciejewska-Karlowska
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland. sawczuk_marek@wp.pl.
authors.forename: M-Arek
authors.initials: MA
authors.lastname: Sawczuk
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland. leonska.duniec@gmail.com.
authors.forename: Agata
authors.initials: A
authors.lastname: Leońska-Duniec
authors.affiliation: Ural State University of Physical Culture, Chelyabinsk, Russia. valeas1@yandex.ru.
authors.forename: Dmitry A
authors.initials: DA
authors.lastname: Dyatlov
authors.affiliation: Ural State University of Physical Culture, Chelyabinsk, Russia. e.f.orekhov@gmail.com.
authors.forename: Evgeniy F
authors.initials: EF
authors.lastname: Orekhov
authors.affiliation: Ural State University of Physical Culture, Chelyabinsk, Russia. goalkiper-29@mail.ru.
authors.forename: Aleksandr V
authors.initials: AV
authors.lastname: Degtyarev
authors.affiliation: South Ural State Medical University, Chelyabinsk, Russia. upush@mail.ru.
authors.forename: Yuliya E
authors.initials: YE
authors.lastname: Pushkareva
authors.affiliation: Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Melbourne, Australia, , VIC, 8001. xu.yan@vu.edu.au.|Murdoch Childrens Research Institute, The Royal Children's Hospital, Melbourne, Australia. xu.yan@vu.edu.au.
authors.forename: Xu
authors.initials: X
authors.lastname: Yan
authors.affiliation: Department of Nutrition, Faculty of Health Sciences, Ariel University, Ariel, Israel. ruthb@ariel.ac.il.
authors.forename: Ruth
authors.initials: R
authors.lastname: Birk
authors.affiliation: Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Melbourne, Australia, , VIC, 8001. nir.eynon@vu.edu.au.|Murdoch Childrens Research Institute, The Royal Children's Hospital, Melbourne, Australia. nir.eynon@vu.edu.au.
authors.forename: Nir
authors.initials: N
authors.lastname: Eynon
mesh_terms: D000328:Adult; D000483:Alleles; D056352:Athletes; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000473:pathology; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008071:Lipoprotein Lipase / Q000235:genetics; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009765:Obesity / Q000235:genetics* / Q000473:pathology; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D016601:RNA-Binding Proteins / Q000235:genetics; D012306:Risk; D055815:Young Adult
chemical_list: C498779:IGF2BP2 protein, human; D016601:RNA-Binding Proteins; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C548261:LPL protein, human; D008071:Lipoprotein Lipase