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鲁汶肌肉力量研究中膝关节肌肉收缩速度特征的全基因组连锁扫描。

Genome-wide linkage scan for contraction velocity characteristics of knee musculature in the Leuven Genes for Muscular Strength Study.

作者信息

De Mars Gunther, Windelinckx An, Huygens Wim, Peeters Maarten W, Beunen Gaston P, Aerssens Jeroen, Vlietinck Robert, Thomis Martine A I

机构信息

Department of Biomedical Kinesiology, Research Center for Exercise and Health, Faculty of Kinesiology and Rehabilitation Sciences, Katholieke Universiteit Leuven, Leuven, Belgium.

出版信息

Physiol Genomics. 2008 Sep 17;35(1):36-44. doi: 10.1152/physiolgenomics.90252.2008. Epub 2008 Aug 5.

Abstract

The torque-velocity relationship is known to be affected by ageing, decreasing its protective role in the prevention of falls. Interindividual variability in this torque-velocity relationship is partly determined by genetic factors (h(2): 44-67%). As a first attempt, this genome-wide linkage study aimed to identify chromosomal regions linked to the torque-velocity relationship of the knee flexors and extensors. A selection of 283 informative male siblings (17-36 yr), belonging to 105 families, was used to conduct a genome-wide SNP-based (Illumina Linkage IVb panel) multipoint linkage analysis for the torque-velocity relationship of the knee flexors and extensors. The strongest evidence for linkage was found at 15q23 for the torque-velocity slope of the knee extensors (TVSE). Other interesting linkage regions with LOD scores >2 were found at 7p12.3 [logarithm of the odds ratio (LOD) = 2.03, P = 0.0011] for the torque-velocity ratio of the knee flexors (TVRF), at 2q14.3 (LOD = 2.25, P = 0.0006) for TVSE, and at 4p14 and 18q23 for the torque-velocity ratio of the knee extensors TVRE (LOD = 2.23 and 2.08; P = 0.0007 and 0.001, respectively). We conclude that many small contributing genes are involved in causing variation in the torque-velocity relationship of the knee flexor and extensor muscles. Several earlier reported candidate genes for muscle strength and muscle mass and new candidates are harbored within or in close vicinity of the linkage regions reported in the present study.

摘要

已知扭矩 - 速度关系会受到衰老的影响,从而降低其在预防跌倒中的保护作用。这种扭矩 - 速度关系的个体间差异部分由遗传因素决定(遗传率h(2):44 - 67%)。作为首次尝试,这项全基因组连锁研究旨在确定与膝部屈肌和伸肌的扭矩 - 速度关系相关的染色体区域。选取了来自105个家庭的283名信息丰富的男性同胞(17 - 36岁),用于对膝部屈肌和伸肌的扭矩 - 速度关系进行基于全基因组单核苷酸多态性(Illumina Linkage IVb芯片)的多点连锁分析。在15q23处发现了与膝部伸肌扭矩 - 速度斜率(TVSE)连锁的最强证据。在7p12.3处发现了其他有趣的连锁区域,其对数优势比(LOD)分数>2,与膝部屈肌扭矩 - 速度比(TVRF)相关(LOD = 2.03,P = 0.0011);在2q14.3处(LOD = 2.25,P = 0.0006)与TVSE相关;在4p14和18q23处与膝部伸肌扭矩 - 速度比TVRE相关(LOD = 2.23和2.08;P分别为0.0007和0.001)。我们得出结论,许多小的贡献基因参与导致膝部屈肌和伸肌扭矩 - 速度关系的变异。本研究报告的连锁区域内或其附近包含了几个先前报道的与肌肉力量和肌肉质量相关的候选基因以及新的候选基因。

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