Rosenberg IH. Sarcopenia: origins and clinical relevance. J Nutr. 1997;127:990s-s991.
Cruz-Jentoft AJ, Bahat G, Bauer J, Boirie Y, Bruyère O, Cederholm T, et al. Sarcopenia: revised European consensus on definition and diagnosis. Age Ageing. 2019;48:16–31.
Landi F, Liperoti R, Russo A, Giovannini S, Tosato M, Capoluongo E, et al. Sarcopenia as a risk factor for falls in elderly individuals: results from the ilSIRENTE study. Clin Nutr. 2012;31:652–8.
Janssen I, Heymsfield SB, Ross R. Low relative skeletal muscle mass (sarcopenia) in older persons is associated with functional impairment and physical disability. J Am Geriatr Soc. 2002;50:889–96.
Dos Santos L, Cyrino ES, Antunes M, Santos DA, Sardinha LB. Sarcopenia and physical independence in older adults: the independent and synergic role of muscle mass and muscle function. J Cachexia Sarcopenia Muscle. 2017;8:245–50.
Shafiee G, Keshtkar A, Soltani A, Ahadi Z, Larijani B, Heshmat R. Prevalence of sarcopenia in the world: a systematic review and meta-analysis of general population studies. J Diabetes Metab Disord. 2017;16:21.
Abney M, McPeek MS, Ober C. Broad and narrow heritabilities of quantitative traits in a founder population. Am J Hum Genet. 2001;68:1302–7.
Zempo H, Miyamoto-Mikami E, Kikuchi N, Fuku N, Miyachi M, Murakami H. Heritability estimates of muscle strength-related phenotypes: a systematic review and meta-analysis. Scand J Med Sci Sports. 2017;27:1537–46.
Tikkanen E, Gustafsson S, Amar D, Shcherbina A, Waggott D, Ashley EA, et al. Biological insights into muscular strength: genetic findings in the UK Biobank. Sci Rep. 2018;8:6451.
Zillikens MC, Demissie S, Hsu YH, Yerges-Armstrong LM, Chou WC, Stolk L, et al. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. Nat Commun. 2017;8:80.
Jones G, Trajanoska K, Santanasto AJ, Stringa N, Kuo CL, Atkins JL, et al. Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Nat Commun. 2021;12:654.
Pei YF, Liu YZ, Yang XL, Zhang H, Feng GJ, Wei XT, et al. The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study. Commun Biol. 2020;3:608.
Pratt J, De Vito G, Narici M, Segurado R, Pessanha L, Dolan J, et al. Plasma C-terminal agrin fragment as an early biomarker for sarcopenia: results from the GenoFit study. J Gerontol A Biol Sci Med Sci. 2021;76:2090–6.
Tintignac LA, Brenner HR, Ruegg MA. Mechanisms regulating neuromuscular junction development and function and causes of muscle wasting. Physiol Rev. 2015;95:809–52.
Pratt J, De Vito G, Narici M, Boreham C. Neuromuscular junction aging: a role for biomarkers and exercise. J Gerontol A Biol Sci Med Sci. 2021;76:576–85.
Wilson D, Jackson T, Sapey E, Lord JM. Frailty and sarcopenia: the potential role of an aged immune system. Ageing Res Rev. 2017;36:1–10.
Pratt J, Boreham C, Ennis S, Ryan AW, De Vito G. Genetic associations with aging muscle: a systematic review. Cells. 2019;9:12.
Morley JE, Argiles JM, Evans WJ, Bhasin S, Cella D, Deutz NE, et al. Nutritional recommendations for the management of sarcopenia. J Am Med Dir Assoc. 2010;11:391–6.
Pratt J, De Vito G, Segurado R, Pessanha L, Dolan J, Narici M, et al. Plasma neurofilament light levels associate with muscle mass and strength in middle-aged and older adults: findings from GenoFit. J Cachexia Sarcopenia Muscle. 2022;13:1811–20.
Lepore E, Casola I, Dobrowolny G, Musarò A. Neuromuscular junction as an entity of nerve-muscle communication. Cells. 2019;8:E906.
Hepple RT, Rice CL. Innervation and neuromuscular control in ageing skeletal muscle. J Physiol. 2016;594:1965–78.
Piasecki M, Ireland A, Piasecki J, Stashuk DW, Swiecicka A, Rutter MK, et al. Failure to expand the motor unit size to compensate for declining motor unit numbers distinguishes sarcopenic from non-sarcopenic older men. J Physiol. 2018;596:1627–37.
Stephan A, Mateos JM, Kozlov SV, Cinelli P, Kistler AD, Hettwer S, et al. Neurotrypsin cleaves agrin locally at the synapse. Faseb J. 2008;22:1861–73.
Kim N, Stiegler AL, Cameron TO, Hallock PT, Gomez AM, Huang JH, et al. Lrp4 is a receptor for agrin and forms a complex with MuSK. Cell. 2008;135:334–42.
Landi F, Calvani R, Lorenzi M, Martone AM, Tosato M, Drey M, et al. Serum levels of C-terminal agrin fragment (CAF) are associated with sarcopenia in older multimorbid community-dwellers: results from the ilSIRENTE study. Exp Gerontol. 2016;79:31–6.
Butikofer L, Zurlinden A, Bolliger MF, Kunz B, Sonderegger P. Destabilization of the neuromuscular junction by proteolytic cleavage of agrin results in precocious sarcopenia. Faseb j. 2011;25:4378–93.
Bolliger MF, Zurlinden A, Lüscher D, Bütikofer L, Shakhova O, Francolini M, et al. Specific proteolytic cleavage of agrin regulates maturation of the neuromuscular junction. J Cell Sci. 2010;123:3944–55.
Hettwer S, Lin S, Kucsera S, Haubitz M, Oliveri F, Fariello RG, et al. Injection of a soluble fragment of neural agrin (NT-1654) considerably improves the muscle pathology caused by the disassembly of the neuromuscular junction. PLoS ONE. 2014;9:e88739.
Pratt J, De Vito G, Narici M, Segurado R, Dolan J, Conroy J, et al. Grip strength performance from 9431 participants of the GenoFit study: normative data and associated factors. Gerosci. 2021;43:2533–46.
Freed D, Aldana R, Weber JA, Edwards JS. The Sentieon Genomics Tools - a fast and accurate solution to variant calling from next-generation sequence data. bioRxiv. 2017;115717:700.
Jun G, Flickinger M, Hetrick KN, Romm JM, Doheny KF, Abecasis GR, et al. Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. Am J Hum Genet. 2012;91:839–48.
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–303.
Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv preprint. 2013;1303.3997v1
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559–75.
Staley JR, Blackshaw J, Kamat MA, Ellis S, Surendran P, Sun BB, et al. PhenoScanner: a database of human genotype-phenotype associations. Bioinformatics. 2016;32:3207–9.
Kamat MA, Blackshaw JA, Young R, Surendran P, Burgess S, Danesh J, et al. PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations. Bioinformatics. 2019;35:4851–3.
GTExConsortium. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science. 2015;348:648–60.
Kluyver T, Ragan-Kelley B, Pérez F, Granger B, Bussonnier M, Frederic J, et al. Jupyter Notebooks – a publishing format for reproducible computational workflows. Positioning and power in academic publishing: players, agents and agendas. 2016;87–90
Sarto F, Stashuk DW, Franchi MV, Monti E, Zampieri S, Valli G, et al. Effects of short-term unloading and active recovery on human motor unit properties, neuromuscular junction transmission and transcriptomic profile. J Physiol. 2022;600:4731–51.
Mancuso N, Rohland N, Rand KA, Tandon A, Allen A, Quinque D, et al. The contribution of rare variation to prostate cancer heritability. Nat Genet. 2016;48:30–5.
Wang Q, Dhindsa RS, Carss K, Harper AR, Nag A, Tachmazidou I, et al. Rare variant contribution to human disease in 281,104 UK Biobank exomes. Nature. 2021;597:527–32.
Willems SM, Wright DJ, Day FR, Trajanoska K, Joshi PK, Morris JA, et al. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Nat Commun. 2017;8:16015.
Sarnowski C, Chen H, Biggs ML, Wassertheil-Smoller S, Bressler J, Irvin MR, et al. Identification of novel and rare variants associated with handgrip strength using whole genome sequence data from the NHLBI Trans-Omics in Precision Medicine (TOPMed) Program. PLoS ONE. 2021;16:e0253611.
Zhuo C, Zhao J, Wang Q, Lin Z, Cai H, Pan H, et al. Assessment of causal associations between handgrip strength and cardiovascular diseases: a two sample mendelian randomization study. Front Cardiovasc Med. 2022;9:930077.
Papadatou-Pastou M, Ntolka E, Schmitz J, Martin M, Munafò MR, Ocklenburg S, et al. Human handedness: a meta-analysis. Psychol Bull. 2020;146:481–524.
Medland SE, Duffy DL, Wright MJ, Geffen GM, Hay DA, Levy F, et al. Genetic influences on handedness: data from 25,732 Australian and Dutch twin families. Neuropsychol. 2009;47:330–7.
Wightman DP, Jansen IE, Savage JE, Shadrin AA, Bahrami S, Holland D, et al. A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease. Nat Genet. 2021;53:1276–82.
留言 (0)