Publication Details

Category Text Publication
Reference Category Journals
DOI 10.1080/15548627.2022.2039994
Title (Primary) Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases
Author Grosjean, I.; Roméo, B.; Domdom, M.-A.; Belaid, A.; D’Andréa, G.; Guillot, N.; Gherardi, R.K.; Gal, J.; Milano, G.; Marquette, C.H.; Hung, R.J.; Landi, M.T.; Han, Y.; Brest, P.; von Bergen, M.; Klionsky, D.J.; Amos, C.I.; Hofman, P.; Mograbi, B.
Source Titel Autophagy
Year 2022
Department MOLSYB
Volume 18
Issue 11
Page From 2519
Page To 2536
Language englisch
Topic T9 Healthy Planet
Keywords Autophagy; cancers; diseases; eQTL; pollutants/exposomics; polymorphism; prognosis; risk; susceptibility; theragnosis
Abstract At a time when complex diseases affect globally 280 million people and claim 14 million lives every year, there is an urgent need to rapidly increase our knowledge into their underlying etiologies. Though critical in identifying the people at risk, the causal environmental factors (microbiome and/or pollutants) and the affected pathophysiological mechanisms are not well understood. Herein, we consider the variations of autophagy-related (ATG) genes at the heart of mechanisms of increased susceptibility to environmental stress. A comprehensive autophagy genomic resource is presented with 263 single nucleotide polymorphisms (SNPs) for 69 autophagy-related genes associated with 117 autoimmune, inflammatory, infectious, cardiovascular, neurological, respiratory, and endocrine diseases. We thus propose the term ‘autophagopathies’ to group together a class of complex human diseases the etiology of which lies in a genetic defect of the autophagy machinery, whether directly related or not to an abnormal flux in autophagy, LC3-associated phagocytosis, or any associated trafficking. The future of precision medicine for common diseases will lie in our ability to exploit these ATG SNP x environment relationships to develop new polygenetic risk scores, new management guidelines, and optimal therapies for afflicted patients.
Persistent UFZ Identifier
Grosjean, I., Roméo, B., Domdom, M.-A., Belaid, A., D’Andréa, G., Guillot, N., Gherardi, R.K., Gal, J., Milano, G., Marquette, C.H., Hung, R.J., Landi, M.T., Han, Y., Brest, P., von Bergen, M., Klionsky, D.J., Amos, C.I., Hofman, P., Mograbi, B. (2022):
Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases
Autophagy 18 (11), 2519 - 2536 10.1080/15548627.2022.2039994