2245G/A polymorphism of the receptor for advanced glycation end-products (RAGE) gene is associated with diabetic retinopathy in the Malaysian population

• Main Authors: Ng, Zhi Xiang, Kuppusamy, Umah Rani, Tajunisah, Iqbal, Fong, Kenneth Choong Sian, Koay, Adrian Choon Aun, Chua, Kek Heng
• Format: Article
• Language: English
• Published: BMJ Publishing Group 2012
• Subjects: R Medicine
• Online Access: http://eprints.um.edu.my/3779/1/2245G-A_polymorphism_of_the_receptor_for_advanced_glycation_end-products_%28RAGE%29_gene_is_associated_with_diabetic_retinopathy_in_the_Malaysian_population.pdf; http://eprints.um.edu.my/3779/; http://dx.doi.org/10.1136/bjophthalmol-2011-300658

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.