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

Satagopan Uthra, Rajiv Raman, Bickol N. Mukesh, Samuel A. Rajkumar, Padmaja Kumari R, Praveena Lakshmipathy, Perumal Gnanamoorthy, Tarun Sharma, Catherine A. McCarty, Govindasamy Kumaramanickavel

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10 Scopus citations

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 polymorphisms1504C/T and1440G/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.

Original languageEnglish (US)
Pages (from-to)18-23
Number of pages6
JournalOphthalmic Genetics
Volume31
Issue number1
DOIs
StatePublished - Mar 1 2010

Keywords

  • Diabetic retinopathy
  • PEDF
  • PRKCB1
  • South India
  • Type 2 diabetes

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