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Cardiovascular Diabetology

, 10:77

First Online: 28 August 2011Received: 10 August 2011Accepted: 28 August 2011

Abstract

BackgroundChromosome 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.

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

MethodsWe 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.

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

ConclusionsWe 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.

AbbreviationsPSMD9Proteasome Modulator 9

SNPsingle nucleotide polymorphism

T2Dtype 2 diabetes

MODY3maturity-onset diabetes of the young 3

IVSintervening sequence intron

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Autor: Claudia Gragnoli

Fuente: https://link.springer.com/article/10.1186/1475-2840-10-77







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