RT Journal Article SR Electronic T1 2245G/A polymorphism of the receptor for advanced glycation end-products (RAGE) gene is associated with diabetic retinopathy in the Malaysian population JF British Journal of Ophthalmology JO Br J Ophthalmol FD BMJ Publishing Group Ltd. SP 289 OP 292 DO 10.1136/bjophthalmol-2011-300658 VO 96 IS 2 A1 Zhi Xiang Ng A1 Umah Rani Kuppusamy A1 Iqbal Tajunisah A1 Kenneth Choong Sian Fong A1 Adrian Choon Aun Koay A1 Kek Heng Chua YR 2012 UL http://bjo.bmj.com/content/96/2/289.abstract 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<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<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>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.