T2D-nephropathy linkage within 12q24 locus

Claudia Gragnoli

doi:10.1016/j.diabres.2011.02.026

T2D-nephropathy linkage within 12q24 locus

Diabetes Res Clin Pract. 2011 Jun;92(3):e73-5. doi: 10.1016/j.diabres.2011.02.026. Epub 2011 Mar 25.

Author

Claudia Gragnoli¹

Affiliation

¹ Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular & Molecular Physiology and Biostatistics, H044, MS Hershey Medical Center, Penn State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA. claudia.gragnoli@gmail.com

PMID: 21439668
DOI: 10.1016/j.diabres.2011.02.026

Abstract

The 12q24 locus is linked to microcirculation pathology and type 2 diabetes (T2D) with nephropathy and entails the PSMD9 gene linked to T2D. We tested the PSMD9 T2D risk SNPs IVS3+nt460A>G, IVS3+nt437T>C and E197G for linkage to T2D-diabetic nephropathy in 200 Italians T2D families and show linkage to diabetic nephropathy.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Pair 12 / genetics*
Diabetes Mellitus, Type 2 / genetics
Diabetic Nephropathies / genetics*
Genetic Predisposition to Disease / genetics
Humans
Polymorphism, Single Nucleotide / genetics
Proteasome Endopeptidase Complex / genetics

Substances

PSMD9 protein, human
Proteasome Endopeptidase Complex