印度南部人群中蛋白激酶Cβ（PRKCB1）和色素上皮衍生因子（PEDF）基因多态性与糖尿病视网膜病变的关系

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

作者信息

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

机构信息

SN ONGC Department of Genetics and Molecular Biology, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai, India.

出版信息

Ophthalmic Genet. 2010 Mar;31(1):18-23. doi: 10.3109/13816810903426231.

DOI:10.3109/13816810903426231

PMID:20141354

Abstract

PURPOSE

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.

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.

摘要