The genetic background difference between diabetic patients with and without nephropathy in a Taiwanese population by linkage disequilibrium mapping using 382 autosomal STR markers.

The genome-wide linkage disequilibrium screening for loci associated with genetic difference between diabetic patients with and without nephropathy was conducted employing 382 autosomal STR markers involving 185 diabetic subjects. Among them, 25 STR markers showed evidence for nominal association with a difference between the two diabetic groups. To investigate the reliability of the association result, the E2a/Pbx1-activated gene in pre-B cells 1 (EB-1) gene was selected from 267 diabetic subjects for single-nucleotide polymorphism genotyping because its genomic region encircles the significant STR marker D12S346. It is clear that some single-nucleotide polymorphisms and haplotypes of the EB-1 gene are associated with genetic difference between diabetic patients with and without nephropathy. This study further indicates that diabetic nephropathy is indeed a genetically heterogeneous group of diseases with similar clinical phenotypes.