Protein kinase C beta (PRKCB1) and pigment epithelium derived factor (PEDF) gene polymorphisms and diabetic retinopathy in a south Indian cohort.
OBJECTIVE
Polymorphisms in protein kinase C beta (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.


CONCLUSIONS
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.
SN ONGC Department of Genetics and Molecular Biology, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai, India. uthrab2306@gmail.com
Satagopan
S
Uthra
Rajiv
R
Raman
Bickol N
BN
Mukesh
Samuel A
SA
Rajkumar
Padmaja R
PR
Kumari
Praveena
P
Lakshmipathy
Perumal
P
Gnanamoorthy
Tarun
T
Sharma
Catherine A
CA
McCarty
Govindasamy
G
Kumaramanickavel
D000368:Aged; D000483:Alleles; D015331:Cohort Studies; D003924:Diabetes Mellitus, Type 2 / Q000150:complications; D003930:Diabetic Retinopathy / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007194:India / Q000453:epidemiology; D008875:Middle Aged; D009414:Nerve Growth Factors / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D011493:Protein Kinase C / Q000235:genetics*; D064546:Protein Kinase C beta; D015843:Serpins / Q000235:genetics*; D000099174:Pigment Epithelium-Derived Factor
D005136:Eye Proteins; D009414:Nerve Growth Factors; D011493:Protein Kinase C; D064546:Protein Kinase C beta; D015843:Serpins; D000099174:Pigment Epithelium-Derived Factor; C579054:PRKCB protein, human