Вестник Московского университета
Серия XXIII
Антропология
Серия XXIII
Антропология
Human Population Biology Research Unit, Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Israel; Department of Twin Research and Genetic Epidemiology, Division of Genetics and Molecular Medicine, KCL, UK
Livshits Gregory, e-mail: gregl@post.tau.ac.il.
A chronic degenerative disease is a disease in which irreversible degenerative changes occur in the affected anatomical structure(s) and/or physiological function(s) and which progressively deteriorate over time. This disease may affect virtually any organs’ system and function, including body composition, which will be in the focus of the present talk. Basically, body composition components include lean, fat and bone body mass. All three components are highly important for normal physiology and metabolism, and deviations from normal values are often associated with various pathological conditions. They include age related loss of muscle and bone mass (sarcopenia and osteoporosis respectively). However, despite extremely high incidence of both these conditions in the developed countries, often considered as new epidemics, and well established major contribution of the genetic factors, identification of the specific genetic polymorphisms is far from the completion. Huge effort is now invested in study of various candidate genes and potential specific polymorphisms selected from functional genomic data-bases and implementing bioinformatics tools. Numerous whole genome linkage and currently association studies identifying hundreds of new suggestive polymorphisms and dozens of new genes are also waiting for approval from the same sources of functional genomics. These results if confirmed could be of considerable basic scientific and clinical significance, in particular for the personalized medicine. The present talk will illustrate this status of affairs in our research, focused on bone strength/fragility and sarcopenia related phenotypes. In particular, this presentation will show the main results of our research implementing modern “omics” methods including whole genome and metabolome studies to identify specific genetic factors and endogenous molecules associated with muscle mass and sarcopenia related phenotypes in general population. I will present some selected results of the GWAS and functional genomics analysis of the muscle mass variation obtained in largest up-to-date international consortium.
muscle mass, BMD, GWAS, candidate genes, association analysis
Цит.: Livshits Gregory GENETICS, GENOMICS AND METABOLOMICS OF HUMAN BODY COMPOSITION // Вестник Московского университета. Серия XXIII. Антропология, 2014; 3/2014; с. 16-17
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