Br J Ophthalmol 96:289-292 doi:10.1136/bjophthalmol-2011-300658
  • Laboratory science

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

Open Access
  1. Kek Heng Chua1
  1. 1Department of Molecular Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  2. 2Department of Ophthalmology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  1. Correspondence to Professor Kek Heng Chua, Department of Molecular Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia; khchua{at}
  1. Contributors Zhi Xiang Ng, Umah Rani Kuppusamy and Kek Heng Chua carried out the experiment, data analysis and manuscript preparation. Iqbal Tajunisah, Kenneth Choong Sian Fong, Adrian Choon Aun Koay, Zhi Xiang Ng and Kek Heng Chua were involved in experimental design, sample collection, and grant and ethics applications.

  • Accepted 2 November 2011
  • Published Online First 24 November 2011


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.


  • Funding This study was supported by University of Malaya Research Grant, RG155-09HTM, High Impact Research Grant and University of Malaya Postgraduate Research Fund, PS239/2010A.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval University of Malaya Medical Center (UMMC) Ethics Review Board, Malaysia. The study was performed in adherence to the principles of the Declaration of Helsinki.

  • Provenance and peer review Not commissioned; externally peer reviewed.

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: and

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