A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes

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Surrogate Markers Micro-Macro-Vasc 2018 , ' A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes ' , Acta Ophthalmologica , vol. 96 , no. 7 , pp. E811-E819 . https://doi.org/10.1111/aos.13769

Title: A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes
Author: Surrogate Markers Micro-Macro-Vasc
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Date: 2018-11
Language: eng
Number of pages: 9
Belongs to series: Acta Ophthalmologica
ISSN: 1755-375X
DOI: https://doi.org/10.1111/aos.13769
URI: http://hdl.handle.net/10138/277487
Abstract: Purpose Diabetic retinopathy is the most common eye complication in patients with diabetes. The purpose of this study is to identify genetic factors contributing to severe diabetic retinopathy. Methods Results A genome-wide association approach was applied. In the Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS) datasets, cases of severe diabetic retinopathy were defined as type 2 diabetic patients who were ever graded as having severe background retinopathy (Level R3) or proliferative retinopathy (Level R4) in at least one eye according to the Scottish Diabetic Retinopathy Grading Scheme or who were once treated by laser photocoagulation. Controls were diabetic individuals whose longitudinal retinopathy screening records were either normal (Level R0) or only with mild background retinopathy (Level R1) in both eyes. Significant Single Nucleotide Polymorphisms (SNPs) were taken forward for meta-analysis using multiple Caucasian cohorts. Five hundred and sixty cases of type 2 diabetes with severe diabetic retinopathy and 4,106 controls were identified in the GoDARTS cohort. We revealed that rs3913535 in the NADPH Oxidase 4 (NOX4) gene reached a p value of 4.05 x 10(-9). Two nearby SNPs, rs10765219 and rs11018670 also showed promising p values (p values = 7.41 x 10(-8) and 1.23 x 10(-8), respectively). In the meta-analysis using multiple Caucasian cohorts (excluding GoDARTS), rs10765219 and rs11018670 showed associations for diabetic retinopathy (p = 0.003 and 0.007, respectively), while the p value of rs3913535 was not significant (p = 0.429). Conclusion This genome-wide association study of severe diabetic retinopathy suggests new evidence for the involvement of the NOX4 gene.
Subject: diabetes
diabetic complications
diabetic retinopathy
genome-wide association study
NOX4
RISK-FACTORS
MICROVASCULAR COMPLICATIONS
SUSCEPTIBILITY GENES
MEXICAN-AMERICANS
INTENSIVE THERAPY
MACULAR EDEMA
STARR COUNTY
POLYMORPHISM
NEPHROPATHY
PROGRESSION
3125 Otorhinolaryngology, ophthalmology
3121 Internal medicine
3111 Biomedicine
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