TY - JOUR
T1 - Proteasome Modulator 9 SNPs are linked to hypertension in type 2 diabetes families
AU - Gragnoli, Claudia
N1 - Funding Information:
Special thanks go to the Molecular Biology staff of Bios Biotech Multi-Diagnostic Health Center (Rome, Italy), which provided technical support for this study. This study was supported by Penn State College of Medicine.
PY - 2011/8/28
Y1 - 2011/8/28
N2 - 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.
AB - 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.
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U2 - 10.1186/1475-2840-10-77
DO - 10.1186/1475-2840-10-77
M3 - Article
C2 - 21871126
AN - SCOPUS:80052023522
VL - 10
JO - Cardiovascular Diabetology
JF - Cardiovascular Diabetology
SN - 1475-2840
M1 - 77
ER -