Autophagy Genes for Wet Age-Related Macular Degeneration in a Finnish Case-Control Study.
Aged
Aged, 80 and over
Alleles
Autophagy
/ genetics
Autophagy-Related Protein 5
/ genetics
Autophagy-Related Protein-1 Homolog
/ genetics
Case-Control Studies
Cohort Studies
Female
Finland
Genotype
Humans
Intracellular Signaling Peptides and Proteins
/ genetics
Macular Degeneration
/ genetics
Male
Microtubule-Associated Proteins
/ genetics
Polymorphism, Single Nucleotide
/ genetics
Retinal Neovascularization
/ genetics
Retinal Pigment Epithelium
/ metabolism
Sequestosome-1 Protein
/ genetics
TOR Serine-Threonine Kinases
/ genetics
Vascular Endothelial Growth Factor A
/ genetics
aging
autophagy
degeneration
macula
neovascularization
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
06 11 2020
06 11 2020
Historique:
received:
06
10
2020
revised:
29
10
2020
accepted:
05
11
2020
entrez:
11
11
2020
pubmed:
12
11
2020
medline:
27
7
2021
Statut:
epublish
Résumé
Age-related macular degeneration is an eye disease that is the main cause of legal blindness in the elderly in developed countries. Despite this, its pathogenesis is not completely known, and many genetic, epigenetic, environmental and lifestyle factors may be involved. Vision loss in age-related macular degeneration (AMD) is usually consequence of the occurrence of its wet (neovascular) form that is targeted in the clinic by anti-VEGF (vascular endothelial growth factor) treatment. The wet form of AMD is associated with the accumulation of cellular waste in the retinal pigment epithelium, which is removed by autophagy and the proteosomal degradation system. In the present work, we searched for the association between genotypes and alleles of single nucleotide polymorphisms (SNPs) of autophagy-related genes and wet AMD occurrence in a cohort of Finnish patients undergoing anti-VEGF therapy and controls. Additionally, the correlation between treatment efficacy and genotypes was investigated. Overall, 225 wet AMD patients and 161 controls were enrolled in this study. Ten SNPs (rs2295080, rs11121704, rs1057079, rs1064261, rs573775, rs11246867, rs3088051, rs10902469, rs73105013, rs10277) in the
Identifiants
pubmed: 33172148
pii: genes11111318
doi: 10.3390/genes11111318
pmc: PMC7694766
pii:
doi:
Substances chimiques
ATG5 protein, human
0
Autophagy-Related Protein 5
0
Intracellular Signaling Peptides and Proteins
0
MAP1LC3A protein, human
0
Microtubule-Associated Proteins
0
SQSTM1 protein, human
0
Sequestosome-1 Protein
0
Vascular Endothelial Growth Factor A
0
MTOR protein, human
EC 2.7.1.1
Autophagy-Related Protein-1 Homolog
EC 2.7.11.1
TOR Serine-Threonine Kinases
EC 2.7.11.1
ULK1 protein, human
EC 2.7.11.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
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