BIOINFORMATICS-ASSISTED SELECTION AND ASSOCIATION OF MATRIX MEATLLOPROTEINASE-9 (MMP-9) POLMORPHISM rs17576 WITH DIABETIC RETINOPATHY

Abstract Purpose: Components of inflammatory pathways had a major role in the development of diabetic induced complications including the retinopathy. Therefore, in the present study bioinformatics assisted predicted the role of polymorphism of genes in the coding sequence of inflammatory pathway mediator matrix metallopeptidase 9 (MMP9) was determined in the development of diabetic retinopathy among the population of south Asian countries. Methods: Non-synonymous single nucleotide polymorphisms (SNP) rs17576 in MMP9 (c.836A>G; p.Q279R) was bioinformatically analyzed as well as genotyping was done in 419 individuals with type 2 diabetes (219 individuals with diabetic retinopathy (DR) and 200 individuals with diabetic non-retinopathic (DNR) while 200 healthy individuals were recruited as control for both DR and DNR patients. Results: In silico assisted functional effect due to kinetic changes in protein structure was observed for MMP9 rs17576 (p.Q279R). In addition, genetic analysis revealed significant association of the “G” allele with diabetic individuals most prominently females (χ²=12.65, p<0.05, OR=0.47 [95% CI=0.30-0.73, p<0.05]) Conclusion: The rs17576 (c.836A>G; p.Q279R) polymorphism of MMP9 was found to influence protein structure and functional and was observed to provide protection, dominantly in females, against the diabetic retinopathy.