Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases
Iris Grosjean, Barnabé Roméo, Marie Angela Domdom, Amine Belaïd, Grégoire D’Andréa, Nicolas Guillot, Romain K. Gherardi, Jocelyn Gal, G. Milano, Charles‐Hugo Marquette, Rayjean J. Hung, Maria Teresa Landi, Younghun Han, Patrick Brest, Martin von Bergen�, Daniel J. Klionsky, Christopher I. Amos, Paul Hofman, Baharia Mograbi
Abstract
ATG, autophagy-related; ALS-FTD, amyotrophic lateral sclerosis-frontotemporal dementia; ccRCC, clear cell renal cell carcinoma; CD, Crohn disease; COPD, chronic obstructive pulmonary disease; eQTL, expression quantitative trait loci; HCC, hepatocellular carcinoma; HNSCC, head and neck squamous cell carcinoma; GTEx, genotype-tissue expression; GWAS, genome-wide association studies; LAP, LC3-associated phagocytosis; LC3-II, phosphatidylethanolamine conjugated form of LC3; LD, linkage disequilibrium; LUAD, lung adenocarcinoma; MAF, minor allele frequency; MAP1LC3/LC3: microtubule associated protein 1 light chain 3; NSCLC, non-small cell lung cancer; OS, overall survival; PtdIns3K CIII, class III phosphatidylinositol 3 kinase; PtdIns3P, phosphatidylinositol-3-phosphate; SLE, systemic lupus erythematosus; SNPs, single-nucleotide polymorphisms; mQTL, methylation quantitative trait loci; ULK, unc-51 like autophagy activating kinase; UTRs, untranslated regions; WHO, World Health Organization.