PLEIOTROPIC EFFECTS OF MULTIFACTORIAL DISEASE SUSCEPTIBILITY GENES
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