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Identification of the UBP1 locus as a critical blood pressure determinant using a combination of mouse and human genetics

Journal article
Authors H. Koutnikova
M. Laakso
L. Lu
R. Combe
J. Paananen
T. Kuulasmaa
J. Kuusisto
H. U. Haring
T. Hansen
O. Pedersen
Ulf Smith
M. Hanefeld
R. W. Williams
J. Auwerx
Published in PLoS Genet
Volume 5
Issue 8
Pages e1000591
ISSN 1553-7404 (Electronic)
Publication year 2009
Published at Institute of Medicine, Department of Molecular and Clinical Medicine
Pages e1000591
Language en
Keywords Adult, Aged, Animals, *Blood Pressure, Cohort Studies, DNA-Binding Proteins/*genetics/metabolism, Female, Humans, Hypertension/*genetics/physiopathology, Male, Mice, Mice, Inbred Strains, Middle Aged, Pedigree, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Transcription Factors/*genetics/metabolism
Subject categories Medical and Health Sciences


Hypertension is a major health problem of largely unknown genetic origins. To identify new genes responsible for hypertension, genetic analysis of recombinant inbred strains of mice followed by human association studies might prove powerful and was exploited in our current study. Using a set of 27 recombinant BXD strains of mice we identified a quantitative trait locus (QTL) for blood pressure (BP) on distal chromosome 9. The association analysis of markers encompassing the syntenic region on human chromosome 3 gave in an additive genetic model the strongest association for rs17030583 C/T and rs2291897 G/A, located within the UBP1 locus, with systolic and diastolic BP (rs17030583: 1.3+/-0.4 mmHg p<0.001, 0.8+/-0.3 mmHg p = 0.006, respectively and rs2291897: 1.5+/-0.4 mmHg p<0.001, 0.8+/-0.3 mmHg p = 0.003, respectively) in three separate studies. Our study, which underscores the marked complementarities of mouse and human genetic approaches, identifies the UBP1 locus as a critical blood pressure determinant. UBP1 plays a role in cholesterol and steroid metabolism via the transcriptional activation of CYP11A, the rate-limiting enzyme in pregnenolone and aldosterone biosynthesis. We suggest that UBP1 and its functional partners are components of a network controlling blood pressure.

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