PT - JOURNAL ARTICLE AU - Ng, Zhi Xiang AU - Kuppusamy, Umah Rani AU - Tajunisah, Iqbal AU - Fong, Kenneth Choong Sian AU - Koay, Adrian Choon Aun AU - Chua, Kek Heng TI - 2245G/A polymorphism of the receptor for advanced glycation end-products (<em>RAGE</em>) gene is associated with diabetic retinopathy in the Malaysian population AID - 10.1136/bjophthalmol-2011-300658 DP - 2012 Feb 01 TA - British Journal of Ophthalmology PG - 289--292 VI - 96 IP - 2 4099 - http://bjo.bmj.com/content/96/2/289.short 4100 - http://bjo.bmj.com/content/96/2/289.full SO - Br J Ophthalmol2012 Feb 01; 96 AB - Background/aims The receptor for advanced glycation end-products (RAGE) has been implicated in the pathogenesis of diabetic microvascular complications. The aim of this study was to investigate the association between 2245G/A gene polymorphism of the RAGE gene and retinopathy in Malaysian type 2 diabetic patients.Methods 342 unrelated type 2 diabetic patients (171 with retinopathy (DR), 171 without retinopathy (DNR)) and 235 unrelated healthy subjects from all over Malaysia were recruited for this study. Genomic DNA was isolated from 3 ml samples of whole blood using a modified conventional DNA extraction method. The genotype and allele frequencies of 2245G/A were studied using the polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method.Results A statistically significant difference in 2245A minor allele frequency was found between control (5.5%) and DR groups (15.2%) (p&lt;0.001, OR=3.06, 95% CI 1.87 to 5.02) as well as between DNR (8.2%) and DR (15.2%) groups (p&lt;0.01, OR=2.01, 95% CI 1.24 to 3.27). However, when the frequency was compared between control and DNR groups, there was no significant difference (p&gt;0.05).Conclusions This is the first study that shows an association between the 2245A allele of the RAGE gene and development of diabetic retinopathy in the Malaysian population.