Protein Kinase C β (PRKCB1) and pigment epithelium derived factor (PEDF) gene polymorphisms and Diabetic Retinopathy in a south Indian cohort

Abstract

Purpose: Polymorphisms in protein kinase C β (PRKCB1) and pigment epithelium derived factor (PEDF) genes have been associated with diabetic nephropathy and retinopathy respectively. Association of promoter polymorphisms–1504C/T and–1440G/T in PRKCB1 gene and sequence variations in exon 4 of PEDF gene are studied with diabetic retinopathy (DR) in a south Indian population based cohort.Methods: Type 2 diabetic patients with and without retinopathy (DR+ and DR- respectively) were recruited. The promoter region of PRKCB1 gene and exon 4 of PEDF genes were sequenced by polymerase chain reaction based direct sequencing and their frequencies were analyzed using relevant statistical tests.Results: The genotype and alleles of the two promoter polymorphisms of PRKCB1 gene were uniformly distributed among DR+ and DR- and hence were not associated with the disease. The haplotypes were also not significantly associated with DR. A T130T polymorphism observed in the PEDF gene showed modest association with absence of diabetic retinopathy.Conclusion: Our results suggest lack of association of PRKCB1 gene promoter polymorphisms and moderate protective association of PEDF gene polymorphism with DR in the south Indian population.