title: Proteasome modulator 9 SNPs are linked to hypertension in type 2 diabetes families.
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.
  
  
  OBJECTIVE
  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.
authors.affiliation: Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular & Molecular Physiology and Biostatistics, Penn State University, Hershey, PA, USA. claudia.gragnoli@gmail.com
authors.forename: Claudia
authors.initials: C
authors.lastname: Gragnoli
mesh_terms: D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000175:diagnosis / Q000235:genetics*; D007558:Italy; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D046988:Proteasome Endopeptidase Complex / Q000235:genetics*
chemical_list: C114476:PSMD9 protein, human; D046988:Proteasome Endopeptidase Complex