Mujeeb Ur Rehman Parrey*
Published February 24, 2025 
Genet. Mol. Res. 24 (1): gmr24121
http://dx.doi.org/10.4238/gmr24121 

About the Authors
Mujeeb Ur Rehman Parrey*

Corresponding author:
Mujeeb Ur Rehman Parrey
E-mail: drparrey@gmail.com

ABSTRACT

Diabetic retinopathy, a complication of diabetes and a leading cause of visual impairment is a significant global public health concern. The study aimed to investigate the role of RAGE rs1800625 single nucleotide polymorphism in the development of diabetic retinopathy (DR) susceptibility in South Asian cohort of Pakistani decent. A panel of individuals consisting of diabetic retinopathy (DR), diabetic non-retinopathy (DNR) and healthy controls was screened for single nucleotide polymorphism (SNP), in promoter region of RAGE rs1800625 by polymerase chain reaction and restriction fragment length polymorphism method. Genotype-phenotype association was assessed by univariate logistic regression analysis. The RAGE SNP rs1800625 revealed a marginally significant association in DR when compared to the controls group under recessive model (RM: OR=0.09, [95%CI=0.0-1.30], p=0.05). The significant difference in genotype frequency resulting and marginal association of rs1800625 in RAGE points to it likely association with DR development. However, a study of larger sample size in other ethnicities is suggested to establish its exact role in DR development. rs1800625.

Key words: RAGE; Proliferative diabetic retinopathy; Advanced glycation end products; Genetic association.