Functional ENTPD1 polymorphisms in African Americans with diabetes and end-stage renal disease.

ABSTRACT:

Objective

The vascular ectonucleotidase ENTPD1 protects against renal injury and modulates glucose homeostasis in mouse models. We sought to determine whether human variation in ENTPD1 influences predisposition to diabetes or diabetic nephropathy.

Research design and methods

We analyzed ENTPD1 single nucleotide polymorphisms (SNPs) in 363 African American control subjects, 380 subjects with type 2 diabetes and end-stage renal disease (DM-ESRD), and 326 subjects with ESRD unrelated to diabetes (non-DM-ESRD). Using human cell lines, we correlated disease-associated ENTPD1 haplotypes with ENTPD1 gene expression. Finally, we studied consequences of ENTPD1 deletion in a mouse model of type 2 diabetes (db/db).

Results

A common ENTPD1 two-SNP haplotype was associated with in

SUBMITTER: Friedman DJ 

PROVIDER: S-EPMC2661602 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature