A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals.
Journal
Communications biology
ISSN: 2399-3642
Titre abrégé: Commun Biol
Pays: England
ID NLM: 101719179
Informations de publication
Date de publication:
20 May 2024
20 May 2024
Historique:
received:
14
07
2023
accepted:
26
03
2024
medline:
21
5
2024
pubmed:
21
5
2024
entrez:
20
5
2024
Statut:
epublish
Résumé
Sarcopenia is a common skeletal muscle disease in older people. Lower limb muscle strength is a good predictive value for sarcopenia; however, little is known about its genetic components. Here, we conducted a genome-wide association study (GWAS) for knee extension strength in a total of 3452 Japanese aged 60 years or older from two independent cohorts. We identified a significant locus, rs10749438 which is an intronic variant in TACC2 (transforming acidic coiled-coil-containing 2) (P = 4.2 × 10
Identifiants
pubmed: 38769351
doi: 10.1038/s42003-024-06108-6
pii: 10.1038/s42003-024-06108-6
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
513Subventions
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP21ek0109555
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP21tm0424220
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP21ck0106642
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP23ek0410114
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP23tm0424225
Informations de copyright
© 2024. The Author(s).
Références
Bischoff-Ferrari, H. A. et al. Comparative performance of current definitions of sarcopenia against the prospective incidence of falls among community-dwelling seniors age 65 and older. Osteoporos. Int. 26, 2793–2802 (2015).
pubmed: 26068298
doi: 10.1007/s00198-015-3194-y
Schaap, L. A., van Schoor, N. M., Lips, P. & Visser, M. Associations of sarcopenia definitions, and their components, with the incidence of recurrent falling and fractures: the longitudinal aging study Amsterdam. J. Gerontol. A Biol. Sci. Med Sci. 73, 1199–1204 (2018).
pubmed: 29300839
doi: 10.1093/gerona/glx245
De Buyser, S. L. et al. Validation of the FNIH sarcopenia criteria and SOF frailty index as predictors of long-term mortality in ambulatory older men. Age Ageing 45, 602–608 (2016).
pubmed: 27126327
doi: 10.1093/ageing/afw071
Cruz-Jentoft, A. J. et al. Sarcopenia: European consensus on definition and diagnosis: Report of the European Working Group on sarcopenia in older people. Age Ageing 39, 412–423 (2010).
pubmed: 20392703
pmcid: 2886201
doi: 10.1093/ageing/afq034
Cruz-Jentoft, A. J. et al. Sarcopenia: revised European consensus on definition and diagnosis. Age Ageing 48, 16–31 (2019).
pubmed: 30312372
doi: 10.1093/ageing/afy169
Cruz-Jentoft, A. J. & Sayer, A. A. Sarcopenia. Lancet 393, 2636–2646 (2019).
pubmed: 31171417
doi: 10.1016/S0140-6736(19)31138-9
Schaap, L. A., Koster, A. & Visser, M. Adiposity, muscle mass, and muscle strength in relation to functional decline in older persons. Epidemiol. Rev. 35, 51–65 (2013).
pubmed: 23221972
doi: 10.1093/epirev/mxs006
Menant, J. C. et al. Strength measures are better than muscle mass measures in predicting health-related outcomes in older people: time to abandon the term sarcopenia? Osteoporos. Int. 28, 59–70 (2017).
pubmed: 27394415
doi: 10.1007/s00198-016-3691-7
Harris-Love, M., Benson, K., Leasure, E., Adams, B. & McIntosh, V. The influence of upper and lower extremity strength on performance-based sarcopenia assessment tests. J. Funct. Morphol. Kinesiol 3, 53 (2018).
pubmed: 30533549
pmcid: 6286049
doi: 10.3390/jfmk3040053
Kristensen, M. T., Hulsbæk, S., Faber, L. L. & Kronborg, L. Knee extension strength measures indicating probable sarcopenia is associated with health-related outcomes and a strong predictor of 1-year mortality in patients following hip fracture surgery. Geriatrics 6, 8 (2021).
pubmed: 33467771
pmcid: 7839049
doi: 10.3390/geriatrics6010008
Yeung, S. S. Y. et al. Knee extension strength measurements should be considered as part of the comprehensive geriatric assessment. BMC Geriatr. 18, 130 (2018).
pubmed: 29859054
pmcid: 5984755
doi: 10.1186/s12877-018-0815-2
Zempo, H. et al. Heritability estimates of muscle strength-related phenotypes: a systematic review and meta-analysis. Scand. J. Med Sci. Sports 27, 1537–1546 (2017).
pubmed: 27882617
doi: 10.1111/sms.12804
Silventoinen, K., Magnusson, P. K. E., Tynelius, P., Kaprio, J. & Rasmussen, F. Heritability of body size and muscle strength in young adulthood: a study of one million Swedish men. Genet Epidemiol. 32, 341–349 (2008).
pubmed: 18271028
doi: 10.1002/gepi.20308
Matteini, A. M. et al. Heritability estimates of endophenotypes of long and health life: the long life family study. J. Gerontol. A Biol. Sci. Med Sci. 65A, 1375–1379 (2010).
pmcid: 2990267
doi: 10.1093/gerona/glq154
Tikkanen, E. et al. Biological insights into muscular strength: genetic findings in the UK biobank. Sci. Rep. 8, 6451 (2018).
pubmed: 29691431
pmcid: 5915424
doi: 10.1038/s41598-018-24735-y
Willems, S. M. et al. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Nat. Commun. 8, 16015 (2017).
pubmed: 29313844
pmcid: 5510175
doi: 10.1038/ncomms16015
Jones, G. et al. Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Nat. Commun. 12, 654 (2021).
pubmed: 33510174
pmcid: 7844411
doi: 10.1038/s41467-021-20918-w
Matteini, A. M. et al. GWAS analysis of handgrip and lower body strength in older adults in the CHARGE consortium. Aging Cell 15, 792–800 (2016).
pubmed: 27325353
pmcid: 5013019
doi: 10.1111/acel.12468
Semenova, E. A., Pranckevičienė, E., Bondareva, E. A., Gabdrakhmanova, L. J. & Ahmetov, I. I. Identification and characterization of genomic predictors of sarcopenia and sarcopenic obesity using UK biobank data. Nutrients 15, 758 (2023).
pubmed: 36771461
pmcid: 9920138
doi: 10.3390/nu15030758
Hamano, T. et al. Effect of environmental and lifestyle factors on hypertension: Shimane COHRE study. PLoS One 7, e49122 (2012).
pubmed: 23152860
pmcid: 3494668
doi: 10.1371/journal.pone.0049122
Garu, A. et al. Effect of multimorbidity on fragility fractures in community-dwelling older adults: Shimane CoHRE Study. J. Clin. Med 10, 3225 (2021).
doi: 10.3390/jcm10153225
Someya, Y. et al. Skeletal muscle function and need for long-term care of urban elderly people in Japan (the Bunkyo Health Study): a prospective cohort study. BMJ Open 9, e031584 (2019).
pubmed: 31530621
pmcid: 6756356
doi: 10.1136/bmjopen-2019-031584
Jiang, L. et al. A resource-efficient tool for mixed model association analysis of large-scale data. Nat. Genet 51, 1749–1755 (2019).
pubmed: 31768069
doi: 10.1038/s41588-019-0530-8
Willer, C. J., Li, Y. & Abecasis, G. R. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190–2191 (2010).
pubmed: 20616382
pmcid: 2922887
doi: 10.1093/bioinformatics/btq340
Davis, C. A. et al. The Encyclopedia of DNA Elements (ENCODE): data portal update. Nucleic Acids Res. 46, D794–D801 (2018).
pubmed: 29126249
doi: 10.1093/nar/gkx1081
Ward, L. D. & Kellis, M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 40, D930–D934 (2012).
pubmed: 22064851
doi: 10.1093/nar/gkr917
Eden, E., Navon, R., Steinfeld, I., Lipson, D. & Yakhini, Z. GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists. BMC Bioinformatics 10, 48 (2009).
pubmed: 19192299
pmcid: 2644678
doi: 10.1186/1471-2105-10-48
Klinck, R. et al. RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1. PloS One 9, e107324 (2014).
pubmed: 25211016
pmcid: 4161394
doi: 10.1371/journal.pone.0107324
The GTEx Consortium The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318–1330 (2020).
pmcid: 7737656
doi: 10.1126/science.aaz1776
Takayama, K. et al. TACC2 is an androgen-responsive cell cycle regulator promoting androgen-mediated and castration-resistant growth of prostate cancer. Mol. Endocrinol. Balt. Md 26, 748–761 (2012).
doi: 10.1210/me.2011-1242
Hoffman, E. P., Brown, R. H. & Kunkel, L. M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51, 919–928 (1987).
pubmed: 3319190
doi: 10.1016/0092-8674(87)90579-4
Lord, J. P., Aitkens, S. G., McCrory, M. A. & Bernauer, E. M. Isometric and isokinetic measurement of hamstring and quadriceps strength. Arch. Phys. Med Rehabil. 73, 324–330 (1992).
pubmed: 1554304
doi: 10.1016/0003-9993(92)90004-G
Bohannon, R. W. Dynamometer measurements of grip and knee extension strength: are they indicative of overall limb and trunk muscle strength? Percept. Mot. Skills 108, 339–342 (2009).
pubmed: 19544938
doi: 10.2466/pms.108.2.339-342
Felicio, D. C. et al. Poor correlation between handgrip strength and isokinetic performance of knee flexor and extensor muscles in community-dwelling elderly women: handgrip strength and isokinetic performance. Geriatr. Gerontol. Int 14, 185–189 (2014).
pubmed: 23617580
doi: 10.1111/ggi.12077
Singhal, S. et al. Low one‐repetition‐maximum knee extension is significantly associated with poor grip strength, female sex, and various aging‐related syndromes. AGING Med. 3, 125–131 (2020).
doi: 10.1002/agm2.12109
Pei, Y.-F. et al. The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study. Commun. Biol. 3, 608 (2020).
pubmed: 33097823
pmcid: 7585446
doi: 10.1038/s42003-020-01334-0
Atkins, J. L. et al. A genome‐wide association study of the frailty index highlights brain pathways in ageing. Aging Cell 20, e13459 (2021).
pubmed: 34431594
pmcid: 8441299
doi: 10.1111/acel.13459
Timmins, I. R. et al. Genome-wide association study of self-reported walking pace suggests beneficial effects of brisk walking on health and survival. Commun. Biol. 3, 634 (2020).
pubmed: 33128006
pmcid: 7599247
doi: 10.1038/s42003-020-01357-7
International Consortium for Blood Pressure GWAS, CHARGE Consortium Aging and Longevity Group, CHARGE Consortium Inflammation Group. et al. Genetic contributions to self-reported tiredness. Mol. Psychiatry 23, 609–620 (2018).
doi: 10.1038/mp.2017.5
Ruth, K. S. et al. Using human genetics to understand the disease impacts of testosterone in men and women. Nat. Med. 26, 252–258 (2020).
pubmed: 32042192
pmcid: 7025895
doi: 10.1038/s41591-020-0751-5
Sinnott-Armstrong, N. et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat. Genet 53, 185–194 (2021).
pubmed: 33462484
doi: 10.1038/s41588-020-00757-z
Peset, I. & Vernos, I. The TACC proteins: TACC-ling microtubule dynamics and centrosome function. Trends Cell Biol. 18, 379–388 (2008).
pubmed: 18656360
doi: 10.1016/j.tcb.2008.06.005
Gergely, F. et al. The TACC domain identifies a family of centrosomal proteins that can interact with microtubules. Proc. Natl. Acad. Sci. 97, 14352–14357 (2000).
pubmed: 11121038
pmcid: 18922
doi: 10.1073/pnas.97.26.14352
Shakya, M. et al. High expression of TACC2 in hepatocellular carcinoma is associated with poor prognosis. Cancer Biomark. 22, 611–619 (2018).
pubmed: 29843208
pmcid: 6130418
doi: 10.3233/CBM-170091
Onodera, Y. et al. TACC2 (transforming acidic coiled‐coil protein 2) in breast carcinoma as a potent prognostic predictor associated with cell proliferation. Cancer Med. 5, 1973–1982 (2016).
pubmed: 27333920
pmcid: 4971925
doi: 10.1002/cam4.736
Cheng, S., Douglas-Jones, A., Yang, X., Mansel, R. E. & Jiang, W. G. Transforming acidic coiled-coil-containing protein 2 (TACC2) in human breast cancer, expression pattern and clinical/prognostic relevance. Cancer Genom. Proteom. 7, 67–73 (2010).
Nagai, A. et al. Overview of the BioBank Japan Project: Study design and profile. J. Epidemiol. 27, S2–S8 (2017).
pubmed: 28189464
pmcid: 5350590
doi: 10.1016/j.je.2016.12.005
Akiyama, M. et al. Characterizing rare and low-frequency height-associated variants in the Japanese population. Nat. Commun. 10, 4393 (2019).
pubmed: 31562340
pmcid: 6764965
doi: 10.1038/s41467-019-12276-5
UK10K Consortium, Huang, J. et al. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nat. Commun. 6, 8111 (2015).
doi: 10.1038/ncomms9111
Howie, B. N., Donnelly, P. & Marchini, J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 5, e1000529 (2009).
pubmed: 19543373
pmcid: 2689936
doi: 10.1371/journal.pgen.1000529
Das, S. et al. Next-generation genotype imputation service and methods. Nat. Genet 48, 1284–1287 (2016).
pubmed: 27571263
pmcid: 5157836
doi: 10.1038/ng.3656
Wang, K., Li, M. & Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164–e164 (2010).
pubmed: 20601685
pmcid: 2938201
doi: 10.1093/nar/gkq603
Visscher, P. M., Hill, W. G. & Wray, N. R. Heritability in the genomics era–concepts and misconceptions. Nat. Rev. Genet 9, 255–266 (2008).
pubmed: 18319743
doi: 10.1038/nrg2322
Benner, C. et al. FINEMAP: efficient variable selection using summary data from genome-wide association studies. Bioinformatics 32, 1493–1501 (2016).
pubmed: 26773131
pmcid: 4866522
doi: 10.1093/bioinformatics/btw018
Ito S. Shuji2022/Code: v1.0.0. Zenodo https://doi.org/10.5281/zenodo.10675274 (2024).