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Genetic study of diabetic retinopathy: Recruitment methodology and analysis of baseline characteristics

Citation

Kaidonis, G and Abhary, S and Daniell, M and Gillies, M and Fogarty, R and Petrovsky, N and Jenkins, A and Essex, R and Chang, JH and Pal, B and Hewitt, AW and Burdon, KP and Craig, JE, Genetic study of diabetic retinopathy: Recruitment methodology and analysis of baseline characteristics, Clinical and Experimental Ophthalmology, 42, (5) pp. 486-493. ISSN 1442-6404 (2014) [Refereed Article]

Copyright Statement

Copyright 2013 Royal Australian and New Zealand College of Ophthalmologists

DOI: doi:10.1111/ceo.12239

Abstract

Background: Diabetic retinopathy (DR) is a blinding disease of increasing prevalence that is caused by a complex interplay of genetic and environmental factors. Here we describe the patient recruitment methodology, case and control definitions, and clinical characteristics of a study sample to be used for genome-wide association analysis to detect genetic risk variants of DR.

Methods: One thousand six hundred sixty-nine participants with either type 1 (T1) or type 2 (T2) diabetes mellitus (DM) aged 18 to 95 years were recruited in Australian hospital clinics. Individuals with T2DM had disease duration of at least 5 years and were taking oral hypoglycaemic medication, and/or insulin therapy. Participants underwent ophthalmic examination. Medical history and biochemistry results were collected. Venous blood was obtained for genetic analysis.

Results: Six hundred eighty-three diabetic cases (178 T1DM and 505 T2DM participants) with sight-threatening DR, defined as severe non-proliferative DR, proliferative DR or diabetic macular oedema were included in this analysis. Eight hundred twelve individuals with DM but no DR or minimal non-proliferative DR were recruited as controls (191 with T1DM and 621 with T2DM). The presence of sight-threatening DR was significantly correlated with DM duration, hypertension, nephropathy, neuropathy, HbA1C and body mass index. Diabetic macular oedema was associated with T2DM (P < 0.001), whereas proliferative DR was associated with T1DM (P < 0.001).

Conclusions: Adoption of a case-control study design involving extremes of the DR phenotype makes this a suitable cohort, for a well-powered genome-wide association study to detect genetic risk variants for DR.

Item Details

Item Type:Refereed Article
Keywords:diabetic macular oedema, diabetic retinopathy, genome-wide association study
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Hewitt, AW (Dr Alex Hewitt)
Author:Burdon, KP (Associate Professor Kathryn Burdon)
ID Code:90062
Year Published:2014
Web of Science® Times Cited:3
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-03-26
Last Modified:2017-11-06
Downloads:0

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