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Open Access Original investigation

Proteasome Modulator 9 SNPs are linked to hypertension in type 2 diabetes families

Claudia Gragnoli

Author Affiliations

Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular & Molecular Physiology and Biostatistics, Penn State University and M. S. Hershey Medical Center, Hershey, PA, USA

Center for Biotechnology and Department of Biology, Temple University's College of Science & Technology, Philadelphia, PA, USA

Molecular Biology Laboratory, Bios Biotech Multi-Diagnostic Health Center, Rome, Italy

Cardiovascular Diabetology 2011, 10:77  doi:10.1186/1475-2840-10-77

Published: 28 August 2011

Abstract

Background

Chromosome 12q24 was recently associated with hypertension. Proteasome Modulator 9 (PSMD9) lies in the 12q24 locus and is in linkage with MODY3, type 2 diabetes (T2D), microvascular and macrovascular pathology, carpal tunnel syndrome, and hypercholesterolemia in Italian families.

Aims

Our goal was to determine whether PSMD9 is linked to elevated blood pressure/hypertension in T2D families.

Methods

We characterized the Italian T2D families' members for presence and/or absence of elevated blood pressure (≥ 130/80) and/or hypertension. The phenotypes were described as unknown in all cases in which the diagnosis was either unclear or the data were not available for the subject studied. We tested in the 200 Italians families for the presence of the linkage of the PSMD9 T2D risk single nucleotide polymorphisms (SNPs) IVS3+nt460 A > G, IVS3+nt437 T > C and E197G A > G with elevated blood pressure/hypertension. The non-parametric linkage analysis was performed for this qualitative phenotype by using the Merlin software; the Lod score and correspondent P-value were calculated. Parametric linkage analysis was also performed. For the significant linkage score, 1000 replicates were run to calculate the empirical P-value.

Results

The PSMD9 gene SNPs studied are in linkage with elevated blood pressure/hypertension in our Italian families.

Conclusions

We conclude that the PSMD9 gene and/or any variant in linkage disequilibrium with the SNPs studied contribute to the linkage to hypertension within our family dataset. This is the first report of PSMD9 linkage to hypertension within the 12q24 locus.