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Pleiotropic effects on Sarcopenia subphenotypes point to potential molecular markers for the disease.
Fonseca, Isabela D; Fabbri, Luiz Eduardo; Moraes, Lauro; Coelho, Daniel B; Dos Santos, Fernanda C; Rosse, Izinara.
Afiliación
  • Fonseca ID; Programa de Pós-Graduação em Biotecnologia, Núcleo de Pesquisas em Ciências Biológicas, Universidade Federal de Ouro Preto, Ouro Preto, MG Brazil; Laboratório de Biologia Celular e Molecular, Núcleo de Pesquisas em Ciências Biológicas, Escola de Farmácia, Universidade Federal de Ouro Preto, Campus M
  • Fabbri LE; Faculdade de Ciências Farmacêuticas, Universidade Estadual de Campinas, Campinas, SP Brazil.
  • Moraes L; Laboratório Multiusuário de Bioinformática, Pós-Graduação em Biotecnologia, Núcleo de Pesquisas em Ciências Biológicas, Universidade Federal de Ouro Preto, Ouro Preto, MG Brazil.
  • Coelho DB; Laboratório de Fisiologia do Exercício da Escola de Educação Física, Universidade Federal de Ouro Preto, Ouro Preto, MG Brazil.
  • Dos Santos FC; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health Toronto, ON Canada.
  • Rosse I; Programa de Pós-Graduação em Biotecnologia, Núcleo de Pesquisas em Ciências Biológicas, Universidade Federal de Ouro Preto, Ouro Preto, MG Brazil; Laboratório Multiusuário de Bioinformática, Pós-Graduação em Biotecnologia, Núcleo de Pesquisas em Ciências Biológicas, Universidade Federal de Ouro Pret
Arch Gerontol Geriatr ; 127: 105553, 2024 12.
Article en En | MEDLINE | ID: mdl-38970884
ABSTRACT
Sarcopenia is a progressive age-related muscle disease characterized by low muscle strength, quantity and quality, and low physical performance. The clinical overlap between these subphenotypes (reduction in muscle strength, quantity and quality, and physical performance) was evidenced, but the genetic overlap is still poorly investigated. Herein, we investigated whether there is a genetic overlap amongst sarcopenia subphenotypes in the search for more effective molecular markers for this disease. For that, a Bioinformatics approach was used to identify and characterize pleiotropic effects at the genome, loci and gene levels using Genome-wide association study results. As a result, a high genetic correlation was identified between gait speed and muscle strength (rG=0.5358, p=3.39 × 10-8). Using a Pleiotropy-informed conditional and conjunctional false discovery rate method we identified two pleiotropic loci for muscle strength and gait speed, one of them was nearby the gene PHACTR1. Moreover, 11 pleiotropic loci and 25 genes were identified for muscle mass and muscle strength. Lastly, using a gene-based GWAS approach three candidate genes were identified in the overlap of the three Sarcopenia subphenotypes FTO, RPS10 and CALCR. The current study provides evidence of genetic overlap and pleiotropy among sarcopenia subphenotypes and highlights novel candidate genes and molecular markers associated with the risk of sarcopenia.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Fuerza Muscular / Estudio de Asociación del Genoma Completo / Sarcopenia / Pleiotropía Genética Límite: Aged / Female / Humans / Male Idioma: En Revista: Arch Gerontol Geriatr Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Fuerza Muscular / Estudio de Asociación del Genoma Completo / Sarcopenia / Pleiotropía Genética Límite: Aged / Female / Humans / Male Idioma: En Revista: Arch Gerontol Geriatr Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos