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

Research output: Contribution to journalArticlepeer-review

12 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 2010

Bibliographical note

Funding Information:
We thank RD TATA Trust, Mumbai, India for the financial grant and patients who participated in the study. We are very thankful to the Sankara Nethralaya Diabetic retinopathy project team for collecting the patients.

Funding Information:
1SN ONGC Department of Genetics and Molecular Biology, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai, India 2Shri Baghawan Mahavir Vitreo-retinal Services, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai, India 3Marshfield Clinic Research Foundation, Marshfield, WI, USA 4Sankara Nethralaya Diabetic Retinopathy Project, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai, India

Keywords

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

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