Phenome-genome relations and pathogenetics of multifactorial diseases
Puzyrev, V.P.
Vestnik Rossiiskoi Akademii Meditsinskikh Nauk 9: 17-27
2011
ISSN/ISBN: 0869-6047 PMID: 22145368 Document Number: 649929
This study of phenome-genome relations in multifactorial diseases is focused on the principal notions and concepts, such as "arthritism", syntropies and syntropic gene, diseasome, orthologic phenotypes (phenologs). The results of original investigations into synthropic genes responsible for predisposition to multifactorial diseases are presented along with analysis of DNA methylation in atherosclerotic plaques and whole-genome analysis of asthma. A hypothesis is proposed that ischaemic preconditioning may be a mechanism underlying the stable cardiovascular disease continuum as a special form of synthropy. Two principal lines of research on genetics of multifactorial disease are distinguished, viz. ontogenesis of multifactorial diseases and epigenetic inheritance.