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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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Meng, W, Shah, KP, Pollack, S, Toppila, I, Hebert, HL, McCarthy, MI, Groop, L, Ahlqvist, E, Lyssenko, V, Agardh, E, Daniell, M, Kaidonis, G, Craig, JE, Mitchell, P, Liew, G, Kifley, A, Wang, JJ, Christiansen, MW, Jensen, RA, Penman, A, Hancock, HA, Chen, CJ, Correa, A, Kuo, JZ, Li, Xiaohui, Chen, Y-der I, Rotter, JI, Klein, R, Klein, B, Wong, TY, Morris, AD, Doney, ASF, Colhoun, HM, Price, AL, Burdon, KP ORCID: 0000-0001-8217-1249, Groop, P-H, Sandholm, N, Grassi, MA, Sobrin, L and Palmer, CNA 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 , e811-e819 , doi: 10.1111/aos.13769.

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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: 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.Results: 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 × 10-9 . Two nearby SNPs, rs10765219 and rs11018670 also showed promising p values (p values = 7.41 × 10-8 and 1.23 × 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.

Item Type: Article
Authors/Creators:Meng, W and Shah, KP and Pollack, S and Toppila, I and Hebert, HL and McCarthy, MI and Groop, L and Ahlqvist, E and Lyssenko, V and Agardh, E and Daniell, M and Kaidonis, G and Craig, JE and Mitchell, P and Liew, G and Kifley, A and Wang, JJ and Christiansen, MW and Jensen, RA and Penman, A and Hancock, HA and Chen, CJ and Correa, A and Kuo, JZ and Li, Xiaohui and Chen, Y-der I and Rotter, JI and Klein, R and Klein, B and Wong, TY and Morris, AD and Doney, ASF and Colhoun, HM and Price, AL and Burdon, KP and Groop, P-H and Sandholm, N and Grassi, MA and Sobrin, L and Palmer, CNA
Keywords: NOX4, diabetes, diabetic complications, diabetic retinopathy, genome-wide association study
Journal or Publication Title: Acta Ophthalmologica
Publisher: Wiley-Blackwell Publishing, Inc.
ISSN: 1755-375X
DOI / ID Number: 10.1111/aos.13769
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Copyright 2018 The AuthorsLicensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

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