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This Article Free to Access Full Text Full Text (PDF) All Versions of this Article: jmg.2007.055277v1 45/5/275    most recent Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Google Scholar Articles by De Mars, G Articles by Thomis, M A I PubMed PubMed Citation Articles by De Mars, G Articles by Thomis, M A I Topic Collections Unlocked

Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: significant evidence for linkage at chromosome 14q24.3

¹ Department of Biomedical Kinesiology, Research Center for Exercise and Health, Faculty of Kinesiology and Rehabilitation Sciences, Katholieke Universiteit Leuven, Leuven, Belgium
² Department of Translational Medical Research, TIBOTEC BVBA, Mechelen, Belgium
³ Department of Human Genetics, Faculty of Medicine, Katholieke Universiteit Leuven, Leuven, Belgium

Background: Maintenance of high muscular fitness is positively related to bone health, functionality in daily life and increasing insulin sensitivity, and negatively related to falls and fractures, morbidity and mortality. Heritability of muscle strength phenotypes ranges between 31% and 95%, but little is known about the identity of the genes underlying this complex trait. As a first attempt, this genome-wide linkage study aimed to identify chromosomal regions linked to muscle and bone cross-sectional area, isometric knee flexion and extension torque, and torque–length relationship for knee flexors and extensors.

Methods: In total, 283 informative male siblings (17–36 years old), belonging to 105 families, were used to conduct a genome-wide SNP-based multipoint linkage analysis.

Results: The strongest evidence for linkage was found for the torque–length relationship of the knee flexors at 14q24.3 (LOD = 4.09; p<10^–5). Suggestive evidence for linkage was found at 14q32.2 (LOD = 3.00; P = 0.005) for muscle and bone cross-sectional area, at 2p24.2 (LOD = 2.57; p = 0.01) for isometric knee torque at 30° flexion, at 1q21.3, 2p23.3 and 18q11.2 (LOD = 2.33, 2.69 and 2.21; p<10^–4 for all) for the torque–length relationship of the knee extensors and at 18p11.31 (LOD = 2.39; p = 0.0004) for muscle-mass adjusted isometric knee extension torque.

Conclusions: We conclude that many small contributing genes rather than a few important genes are involved in causing variation in different underlying phenotypes of muscle strength. Furthermore, some overlap in promising genomic regions were identified among different strength phenotypes.

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				G. De Mars, A. Windelinckx, W. Huygens, M. W. Peeters, G. P. Beunen, J. Aerssens, R. Vlietinck, and M. A. I. Thomis Genome-wide linkage scan for contraction velocity characteristics of knee musculature in the Leuven Genes for Muscular Strength Study Physiol Genomics, September 17, 2008; 35(1): 36 - 44. [Abstract] [Full Text] [PDF]