“Mendelian Code” in the Genetic Structure of Common Multifactorial Diseases

The phenomenon of comorbidity between monogenic and complex diseases testifies to the participation of specific shared genes and biological pathways that contribute to the predisposition to complex diseases, known as the “Mendelian code”, which ties each complex disease with a unique set of Mendelian loci. The Mendelian disease genes within the framework of the omnigenetic model of complex diseases can act as core genes that function in the target organs and have a role in pathogenesis. Mendelian diseases are a useful point of departure to prioritize loci or genes pertinent to complex traits and diseases. This approach was applied to prioritization of genome-wide association studies-implicated loci of both hypertrophic and dilated cardiomyopathies in this review. The functional characterization of the Mendelian disease genes within genetic structure of complex diseases will provide new knowledge about the “core” and “peripheral” genes and their role. The importance of the study of the “Mendelian code” of complex diseases using a multiomic approach lies in the identification of driver genes and biological pathways that are associated with the diseases.

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