Examining the Influence of Genes Linked to Comorbidities on the Development of Diabetic Retinopathy
DOI:
https://doi.org/10.47611/jsrhs.v10i3.1645Keywords:
diabetic retinopathy, bioinformatics, gwasAbstract
Diabetic retinopathy (DR) is a complication in diabetic patients that can cause vision loss and even blindness12 {Healthline}. The condition causes bleeding in the blood vessels of the retina and ultimately interferes with the capture of photons and the transmission of neural signals to the brain3 {National Eye Institute}. Unfortunately, there is no cure available for the approximately 200,000 US citizens currently affected by DR8 {Lucas Research}. Current treatments are merely palliative and rarely restore vision. The best approach to combating DR is prevention. Understanding the root genetic causal links of DR is crucial to developing effective prevention plans.
Unlike Huntington’s Disease, which has well defined genetic origins, no single gene has been pinpointed as a causative factor for DR, despite having been extensively researched. Since diabetes alone isn’t enough to predict the progression to DR4{NCBI}, one can hypothesize that a combination of diabetes and at least one other comorbidity, such as high blood pressure, high cholesterol, etc., may be essential to the development of DR. In this way, single nucleotide polymorphisms (SNPs) associated with other comorbidities could increase the likelihood of retinal bleeding in diabetic populations. The identification of these SNPs would offer valuable insight into the development of a genetically-driven prevention plan for diabetic retinopathy.
Downloads
References or Bibliography
“AMD Gene Consortium Study of Age Related Macular Degeneration.” Center for Statistical Genetics, csg.sph.umich.edu/abecasis/public/amdgene2012/.
Database, GeneCards Human Gene. “GeneCards®: The Human Gene Database.” GeneCards, www.genecards.org/.
“Diabetic Retinopathy.” National Eye Institute, U.S. Department of Health and Human Services, www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/diabetic-retinopathy#:~:text=Diabetic retinopathy is caused by,vessels all over the body.
Ehret, Georg B, and Mark J Caulfield. “Genes for Blood Pressure: an Opportunity to Understand Hypertension.”
European Heart Journal, Oxford University Press, Apr. 2013,
www.ncbi.nlm.nih.gov/pmc/articles/PMC3612776/.
Gazal S;Loh PR;Finucane HK;Ganna A;Schoech A;Sunyaev S;Price AL; “Functional Architecture of Low-Frequency Variants Highlights Strength of Negative Selection across Coding and Non-Coding Annotations.” Nature Genetics, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/30297966/.
“Global Lipids Genetics Consortium Results.” Center for Statistical Genetics, csg.sph.umich.edu/willer/public/lipids2013/.
“Home - SNP - NCBI.” National Center for Biotechnology Information, U.S. National Library of Medicine,
www.ncbi.nlm.nih.gov/snp/
“Learn How Diabetes Affects Eyesight.” Lucas Research, 29 June 2017,
lucasresearch.org/diabetes-affects-eyesight/.
Metabolic Disorders Knowledge Portal - Home, t2d.hugeamp.org/.
Pollack S;Igo RP;Jensen RA;Christiansen M;Li X;Cheng CY;Ng MCY;Smith AV;Rossin EJ;Segrè AV;Davoudi S;Tan GS;Chen YI;Kuo JZ;Dimitrov LM;Stanwyck LK;Meng W;Hosseini SM;Imamura M;Nousome D;Kim J;Hai Y;Jia Y;Ahn J;Leong A;Shah K;Park KH;Guo X;Ipp E;Taylor KD; “Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control.” Diabetes, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/30487263/.
Shah S;Henry A;Roselli C;Lin H;Sveinbjörnsson G;Fatemifar G;Hedman ÅK;Wilk JB;Morley MP;Chaffin MD;Helgadottir A;Verweij N;Dehghan A;Almgren P;Andersson C;Aragam KG;Ärnlöv J;Backman JD;Biggs ML;Bloom HL;Brandimarto J;Brown MR;Buckbinder L;Carey DJ;Chasman. “Genome-Wide Association and Mendelian Randomisation Analysis Provide Insights into the Pathogenesis of Heart Failure.” Nature Communications, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/31919418/.
Team, the Healthline Editorial. “Retina Function, Anatomy & Anatomy | Body Maps.” Healthline, Healthline
Media, 22 Jan. 2018, www.healthline.com/human-body-maps/retina.
UniProt ConsortiumEuropean Bioinformatics InstituteProtein Information ResourceSIB Swiss Institute of Bioinformatics. “UniProt Consortium.” UniProt ConsortiumEuropean Bioinformatics InstituteProtein Information ResourceSIB Swiss Institute of Bioinformatics, www.uniprot.org/.
“File:Dna-SNP.svg.” Wikimedia Commons, commons.wikimedia.org/wiki/File:Dna-SNP.svg.
Published
How to Cite
Issue
Section
Copyright (c) 2021 Ishani Das; Larry DeMuth
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Copyright holder(s) granted JSR a perpetual, non-exclusive license to distriute & display this article.