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

Autor: Uthra, Satagopan, Raman, Rajiv, Mukesh, Bickol N., Rajkumar, Samuel A., Kumari R, Padmaja, Lakshmipathy, Praveena, Gnanamoorthy, Perumal, Sharma, Tarun, McCarty, Catherine A., Kumaramanickavel, Govindasamy
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Zdroj: Ophthalmic Genetics; Mar2010, Vol. 31 Issue 1, p18-23, 6p, 6 Charts
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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