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[多因素疾病的表型-基因组关系及发病机制]

[Phenome-genome relations and pathogenetics of multifactorial diseases].

作者信息

Puzyrev V P

出版信息

Vestn Ross Akad Med Nauk. 2011(9):17-27.

Abstract

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.

摘要

这项关于多因素疾病中表型组-基因组关系的研究聚焦于主要的观念和概念,如“关节炎体质”、协同作用和协同基因、疾病组、直系同源表型(表型同源物)。文中展示了对导致多因素疾病易感性的协同基因的原创性研究结果,同时还对动脉粥样硬化斑块中的DNA甲基化以及哮喘的全基因组分析进行了分析。提出了一个假说,即缺血预处理可能是作为一种特殊协同作用形式的稳定心血管疾病连续体的潜在机制。区分了多因素疾病遗传学的两条主要研究路线,即多因素疾病的个体发生和表观遗传遗传。

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