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

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dc.contributor.authorKaidonis, G.
dc.contributor.authorAbhary, S.
dc.contributor.authorDaniell, M.
dc.contributor.authorGillies, M.
dc.contributor.authorFogarty, R.
dc.contributor.authorPetrovsky, N.
dc.contributor.authorJenkins, A.
dc.contributor.authorEssex, R.
dc.contributor.authorChang, J.
dc.contributor.authorPal, B.
dc.contributor.authorHewitt, A.
dc.contributor.authorBurdon, K.
dc.contributor.authorCraig, J.
dc.date.issued2014
dc.description.abstractBACKGROUND: 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.
dc.description.statementofresponsibilityGeorgia Kaidonis, Sotoodeh Abhary, Mark Daniell, Mark Gillies, Rhys Fogarty, Nikolai Petrovsky, Alicia Jenkins, Rohan Essex, John H Chang, Bishwanath Pal, Alex W Hewitt, Kathryn P Burdon and Jamie E Craig
dc.identifier.citationClinical and Experimental Ophthalmology, 2014; 42(5):486-493
dc.identifier.doi10.1111/ceo.12239
dc.identifier.issn1442-6404
dc.identifier.issn1442-9071
dc.identifier.urihttp://hdl.handle.net/2440/94118
dc.language.isoen
dc.publisherWiley
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/595918
dc.rights© 2013 Royal Australian and New Zealand College of Ophthalmologists
dc.source.urihttp://dx.doi.org/10.1111/ceo.12239
dc.subjectdiabetic macular oedema; diabetic retinopathy; genome-wide association study
dc.titleGenetic study of diabetic retinopathy: recruitment methodology and analysis of baseline characteristics
dc.typeJournal article
pubs.publication-statusPublished

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