PLEIOTROPIC EFFECTS OF MULTIFACTORIAL DISEASE SUSCEPTIBILITY GENES

А.N. Kucher, N.P. Babushkina, S.V. Buikin, V.P. Puzyrev
Research Institute of Medical Genetics of the Siberian Branch of the Russian Academy of Medical Sciences, Tomsk, Russian Federation

The article provides a brief overview of the evolution of views on the phenomenon of pleiotropy. We discuss with assessment of pleiotropic effects significance in the formation of human pathological states, above all – multifactorial diseases (MFD). Pleiotropic effects of candidate genes of MFD are illustrated on the basis of own research. We show the involvement of the same SNP in determination of different functional states of the organism, as well as in the formation of the phenotypic variability of different endophenotypes in certain pathologies. These results point to the importance of knowledge of the functional role of genes and their polymorphic variants through the analysis of associations with phenotypes (disease), endophenotypes and integral indicators assessment of the human body function.
Keywords: 
pleiotropy, genetic associations, multifactorial diseases