Quantitative Genetics of Human Protein N-Glycosylation

Результат исследования: Публикации в книгах, отчётах, сборниках, трудах конференцийглава/разделнаучнаярецензирование

Аннотация

Although changes in protein glycosylation are observed in a wide range of diseases and pathological states, the examples of use of glycans as biomarkers and therapeutic targets are limited. This is not in small part because the understanding of human glycome regulation in vivo is incomplete and fragmented. Combination of human glycomics and genomics offers a powerful “data-driven hypotheses” approach to dissect the complex human glycobiology in vivo in an agnostic manner. In this chapter we review a decade of quantitative genetic studies of human N-glycome, including studies of its heritability and gene-mapping via genome-wide association studies (GWASs). We show that GWASs of human N-glycome start revealing regulators of the biochemical network of N-glycosylation. Some of these regulators demonstrate pleiotropic effects on human disease, especially autoimmune and inflammatory. We emphasize the use of in silico functional methods and multi-omics approaches to prioritize functional mechanisms to be further validated in laboratory experiments. This combined approach will lead to better understanding of mechanisms of regulation of human protein glycosylation and will provide a rich source of etiologic insight, therapeutic interventions, and biomarkers.

Язык оригиналаанглийский
Название основной публикацииAdvances in Experimental Medicine and Biology
ИздательSpringer, Cham
Страницы151-171
Число страниц21
DOI
СостояниеОпубликовано - 2021

Серия публикаций

НазваниеAdvances in Experimental Medicine and Biology
Том1325
ISSN (печатное издание)0065-2598
ISSN (электронное издание)2214-8019

Предметные области OECD FOS+WOS

  • 1.06.CQ БИОХИМИЯ И МОЛЕКУЛЯРНАЯ БИОЛОГИЯ
  • 1.06.KM ГЕНЕТИКА И НАСЛЕДСТВЕННОСТЬ

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