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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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

Meng, Weihua (author): University of Dundee

Shah, Kaanan P. (author): University of Chicago

Pollack, Samuela (author): Boston University

Toppila, Iiro (author): Helsinki University Central Hospital,University of Helsinki

Hebert, Harry L. (author): University of Dundee

McCarthy, Mark I. (author): Wellcome Trust Centre for Human Genetics,Churchill Hospital,University of Oxford

Groop, Leif (author): Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups

Ahlqvist, Emma (author): Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups

Lyssenko, Valeriya (author): Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups

Agardh, Elisabet (author): Lund University,Lunds universitet,Oftalmologi (Malmö),Forskargrupper vid Lunds universitet,Ophthalmology (Malmö),Lund University Research Groups

Daniell, Mark (author): Royal Melbourne Hospital

Kaidonis, Georgia (author): Flinders University

Craig, Jamie E. (author): Flinders University

Mitchell, Paul (author): University of Sydney

Liew, Gerald (author): University of Sydney

Kifley, Annette (author): University of Sydney

Wang, Jie Jin (author): University of Sydney

Christiansen, Mark W. (author): Washington University School of Medicine

Jensen, Richard A. (author): Washington University School of Medicine

Penman, Alan (author): University of Mississippi Medical Center

Hancock, Heather A. (author): University of Mississippi Medical Center

Chen, Ching J. (author): University of Mississippi Medical Center

Correa, Adolfo (author): University of Mississippi Medical Center

Kuo, Jane Z. (author): University of California, Los Angeles,CardioDx Inc.

Li, Xiaohui (author): University of California, Los Angeles

Chen, Yii der I. (author): University of California, Los Angeles

Rotter, Jerome I. (author): University of California, Los Angeles

Klein, Ronald (author): University of Wisconsin-Madison

Klein, Barbara (author)

Wong, Tien Y. (author): National University of Singapore

Morris, Andrew D. (author): University of Edinburgh

Doney, Alexander S.F. (author): University of Dundee

Colhoun, Helen M. (author): University of Edinburgh

Price, Alkes L. (author): Boston University

Burdon, Kathryn P. (author): University of Tasmania,Flinders University

Groop, Per Henrik (author): Helsinki University Central Hospital,University of Helsinki,Monash University

Sandholm, Niina (author): Helsinki University Central Hospital,University of Helsinki

Grassi, Michael A. (author): University of Illinois at Chicago

Sobrin, Lucia (author): Harvard Medical School

Palmer, Colin N.A. (author): University of Dundee

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(creator_code:org_t)

2018-09-04
2018
English.
In: Acta Ophthalmologica. - : Wiley. - 1755-375X. ; 96:7, s. 811-819

Related links:: http://dx.doi.org/10... (free); show more...; https://onlinelibrar...; https://lup.lub.lu.s...; https://doi.org/10.1...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

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.

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Endocrinology an ...

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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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