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Title: Identification and prioritization of NUAK1 and PPP1CC as positional candidate loci for skeletal muscle strength phenotypes
Authors: Windelinckx, An ×
De Mars, Gunther
Huygens, Wim
Peeters, Maarten
Vincent, Barbara
Wijmenga, Cisca
Lambrechts, Diether
Aerssens, Jeroen
Vlietinck, Robert
Beunen, Gaston
Thomis, Martine #
Issue Date: Sep-2011
Publisher: American Physiological Society
Series Title: Physiological Genomics vol:43 issue:17 pages:981-992
Abstract: Muscle strength is an important determinant in elite sports performance as well as in the activities of daily living. Muscle metabolism also plays a role in the genesis, and therefore prevention, of common pathological conditions and chronic diseases. Even though heritability estimates between 31% and 78% suggest a significant genetic component in muscle strength, only a limited number of genes influencing muscle strength have been identified. This study aimed to identify and prioritize positional candidate genes within a skeletal muscle strength quantitative trait locus on chromosome 12q22-23 for follow-up. A two-staged gene-centred fine mapping approach using 122 SNPs in stage 1 identified a family-based association (N = 500) between several tagSNPs located in the ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2; rs3026468), the NUAK family, SNF1-like kinase, 1 (NUAK1; rs10861553 and rs3741886) and the protein phosphatase 1, catalytic subunit, gamma isoform (PPP1CC; rs1050587 and rs7901769) genes, and knee torque production (p-values up to 0.00092). In stage 2, family-based association tests on additional putatively functional SNPs (e.g. exonic SNPs, SNPs in transcription factor binding sites or in conserved regions) in an enlarged sample (N = 536; 464 individuals overlap with stage 1) did not identify additional associations with muscle strength characteristics. Further in depth analyses will be necessary to elucidate the exact role of ATP2A2, PPP1CC and NUAK1 in muscle strength and to find out which functional polymorphisms are at the base of the inter-individual strength differences.
URI: 
ISSN: 1094-8341
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Department of Kinesiology - miscellaneous
Exercise Physiology Research Group
Vesalius Research Centre (-)
Laboratory of Translational Genetics (Vesalius Research Center) (+)
Physical Activity, Sports & Health Research Group
× corresponding author
# (joint) last author

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