Identification of a common risk haplotype for diabetic nephropathy at the protein kinase C-β1 (PRKCB1) gene locus

Abstract

Abnormal activation of protein kinase C-β isoforms in the diabetic state has been implicated in the development of diabetic nephropathy. It is thus plausible that DNA sequence differences in the protein kinase C-β1 gene (PRKCB1), which encodes both βI and βII isoforms, may influence susceptibility to nephropathy. Nine single-nucleotide polymorphisms (SNP) in PRKCB1 were tested for association with diabetic nephropathy in type I diabetes mellitus, by using both case-control and family-study designs. Allele and genotype distributions of two SNP in the promoter (-1504C/T and -546C/G) differed significantly between case patients and control patients (P < 0.05). These associations were particularly strong with diabetes mellitus duration of