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Autophagy Genes for Wet Age-Related Macular Degeneration in a Finnish Case-Control Study

Department of Ophthalmology, University of Eastern Finland, 70211 Kuopio, Finland
Department of Ophthalmology, Kuopio University Hospital, 70029 Kuopio, Finland
Faculty of Biology and Environmental Protection, Department of Molecular Genetics, University of Lodz, 90-136 Lodz, Poland
Helsinki Retina Research Group, University of Helsinki, 00014 Helsinki, Finland and Department of Ophthalmology, Kymenlaakso Central Hospital, 48100 Kotka, Finland
Department of Haemostatic Disorders, Chair of Biomedical Sciences, Medical University, 92-215 Lodz, Poland
Author to whom correspondence should be addressed.
Genes 2020, 11(11), 1318;
Received: 6 October 2020 / Revised: 29 October 2020 / Accepted: 5 November 2020 / Published: 6 November 2020
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 mTOR (Mechanistic Target of Rapamycin), ATG5 (Autophagy Related 5), ULK1 (Unc-51-Like Autophagy Activating Kinase 1), MAP1LC3A (Microtubule Associated Protein 1 Light Chain 3 α), SQSTM1 (Sequestosome 1) were analyzed with RT-PCR-based genotyping. The genotype/alleles rs2295080-G, rs11121704-C, rs1057079-C and rs73105013-T associated with an increased, whereas rs2295080-TT, rs2295080-T, rs11121704-TT, rs1057079-TT, rs1057079-T, rs573775-AA and rs73105013-C with a decreased occurrence of wet AMD. In addition, the rs2295080-GG, rs2295080-GT, rs1057079-TT, rs11246867-AG, rs3088051-CC and rs10277-CC genotypes were a positively correlated cumulative number of anti-VEGF injections in 2 years. Therefore, variability in autophagy genes may have an impact on the risk of wet AMD occurrence and the efficacy of anti-VEGF treatment. View Full-Text
Keywords: aging; autophagy; degeneration; macula; neovascularization aging; autophagy; degeneration; macula; neovascularization
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MDPI and ACS Style

Paterno, J.J.; Koskela, A.; Hyttinen, J.M.T.; Vattulainen, E.; Synowiec, E.; Tuuminen, R.; Watala, C.; Blasiak, J.; Kaarniranta, K. Autophagy Genes for Wet Age-Related Macular Degeneration in a Finnish Case-Control Study. Genes 2020, 11, 1318.

AMA Style

Paterno JJ, Koskela A, Hyttinen JMT, Vattulainen E, Synowiec E, Tuuminen R, Watala C, Blasiak J, Kaarniranta K. Autophagy Genes for Wet Age-Related Macular Degeneration in a Finnish Case-Control Study. Genes. 2020; 11(11):1318.

Chicago/Turabian Style

Paterno, Jussi J., Ali Koskela, Juha M.T. Hyttinen, Elina Vattulainen, Ewelina Synowiec, Raimo Tuuminen, Cezary Watala, Janusz Blasiak, and Kai Kaarniranta. 2020. "Autophagy Genes for Wet Age-Related Macular Degeneration in a Finnish Case-Control Study" Genes 11, no. 11: 1318.

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