• English
    • العربية
  • العربية
  • Login
  • QU
  • QU Library
  •  Home
  • Communities & Collections
  • Help
    • Item Submission
    • Publisher policies
    • User guides
    • FAQs
  • About QSpace
    • Vision & Mission
View Item 
  •   Qatar University Digital Hub
  • Qatar University Institutional Repository
  • Academic
  • University Publications
  • QU Forum Proceedings
  • Qatar University Annual Research Forum & Exhibition
  • QUARFE 2020
  • Theme 2: Population, Health & Wellness
  • View Item
  • Qatar University Digital Hub
  • Qatar University Institutional Repository
  • Academic
  • University Publications
  • QU Forum Proceedings
  • Qatar University Annual Research Forum & Exhibition
  • QUARFE 2020
  • Theme 2: Population, Health & Wellness
  • View Item
  •      
  •  
    JavaScript is disabled for your browser. Some features of this site may not work without it.

    Genome-wide association study identifies a novel association between a cardiovascular gene polymorphism and superior athletic performance

    Thumbnail
    View/Open
    Genome-wide association study identifies a novel association between a cardiovascular gene polymorphism and superior athletic performance.pdf (1.229Mb)
    Date
    2020
    Author
    Elrayess, Mohamed
    Al-Khelaifi, Fatima
    Yousri, Noha
    Al-Bagha, Omar
    Metadata
    Show full item record
    Abstract
    Background: Research into the genetic predisposition to superior athletic performance has been a hindered by the underpowered studies and the small effect size of identified genetic variants. The aims of this study were to investigate the association of common single-nucleotide polymorphisms (SNPs) with endurance athlete status in a large cohort of elite European athletes using GWAS approach, followed by replication studies in Russian and Japanese elite athletes and functional validation using metabolomics analysis. Results: The association of 476,728 SNPs of Illumina DrugCore Gene chip and endurance athlete status was investigated in 796 European international-level athletes (645 males, 151 females) by comparing allelic frequencies between athletes specialized in sports with high (n=662) and low/moderate (n=134) aerobic component. Validation of results was performed by comparing the frequencies of the most significant SNPs between 242 and 168 elite Russian high and low/moderate aerobic athletes, respectively, and between 60 elite Japanese endurance athletes and 406 controls. A meta-analysis has identified rs1052373 (GG homozygotes) in Myosin Binding Protein (MYBPC3; implicated in cardiac hypertrophic myopathy) gene to be associated with endurance athlete status (P=1.43E-08, odd ratio 2.2). Homozygotes carriers of rs1052373 G allele in Russian athletes had significantly greater VO2max than carriers of the AA+AG (P = 0.005). Subsequent metabolomics analysis revealed several amino acids and lipids associated with rs1052373 G allele (1.82x10-05) including the testosterone precursor androstenediol (3beta,17beta) disulfate. Conclusions: This is the first report of genome-wide significant SNP and related metabolites associated with elite athlete status. Further investigations of the functional relevance of the identified SNPs and metabolites in relation to enhanced athletic performance are warranted
    URI
    https://doi.org/10.29117/quarfe.2020.0111
    DOI/handle
    http://hdl.handle.net/10576/16695
    Collections
    • Theme 2: Population, Health & Wellness [‎118‎ items ]

    entitlement


    Qatar University Digital Hub is a digital collection operated and maintained by the Qatar University Library and supported by the ITS department

    Contact Us | Send Feedback
    Contact Us | Send Feedback | QU

     

     

    Home

    Submit your QU affiliated work

    Browse

    All of Digital Hub
      Communities & Collections Publication Date Author Title Subject Type Language Publisher
    This Collection
      Publication Date Author Title Subject Type Language Publisher

    My Account

    Login

    Statistics

    View Usage Statistics

    About QSpace

    Vision & Mission

    Help

    Item Submission Publisher policiesUser guides FAQs

    Qatar University Digital Hub is a digital collection operated and maintained by the Qatar University Library and supported by the ITS department

    Contact Us | Send Feedback
    Contact Us | Send Feedback | QU

     

     

    Video