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

Abstract

BACKGROUND: Diabetic retinopathy (DR) is a blinding disease of increasing prevalence,

Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene

“…Australian participants in the discovery cohort were recruited from the locations listed in the ESM between 2006 and 2011, as previously described [20]. Replication cohorts were recruited between 2011 and 2013 from these sites, as well as from additional sites listed in the ESM.…”

“…Discovery cohort Patients of at least 18 years of age who were receiving medical treatment for type 2 diabetes mellitus for at least 5 years were invited to participate, as previously described [20]. Retinopathy status was determined from direct ophthalmic examination by the treating ophthalmologist and was graded according to modified Early Treatment in Diabetic Retinopathy Study (ETDRS) criteria [21].…”

“…Biochemistry results were collected, including HbA 1c , serum lipids and renal function tests. A detailed description of all clinical variables collected has been previously published [20]. DNA was extracted from whole blood using QIAamp Blood DNA Maxi Kits (Qiagen, Chadstone Centre, VIC, Australia).…”

A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients

“…Adult patients ([18 years of age) were eligible for participation in this study if they had a history of either T1DM, or T2DM treated with either oral hypoglycaemic agents and/or insulin therapy, for at least 5 years. Recruitment methodology and baseline characteristics of cases and controls have been reported [17]. Since this report, an additional 1230 diabetic patients (639 with sightthreatening DR (STDR)) have been recruited with similar baseline characteristics.…”

Common Sequence Variation in the VEGFC Gene Is Associated with Diabetic Retinopathy and Diabetic Macular Edema

“…A detailed description of recruitment protocols and clinical characteristics of the first 1669 diabetic participants has been reported. 18 A further 1230 diabetic participants have since been recruited, including 639 cases with STDR. These additional cases were recruited via the Registry of Advanced Diabetic Retinopathy (projectradar.com.au), a DNA repository of diabetic patients who have required ophthalmic intervention (in the form of laser, intravitreal injections, or surgery) for DR management.…”