Clinical Research Directory

Genetic Predisposition to High Blood Pressure

Sponsor: Linkoeping University

Summary

Primary aldosteronism (PA) is a known but underdiagnosed cause of high blood pressure. It is estimated that more than 10% of all people with high blood pressure (HT) suffer from PA, which is often caused by aldosterone-producing adrenal cortical tumors (APAs). In a pilot study with 35 patients with APAs leading to hypertension, the investigators have identified a genetic variant in a presumed Calcium-channel gene. The variant was significantly overrepresented in patients with APAs compared to the normal population (12% compared to approximately 4%). Interestingly, all patients having APAs and the variant were men. The SCAPIS study is a world-unique Swedish research study in the field of heart/lungs, in which 30,000 randomly selected people between the ages of 50-64 participated. The study is a collaboration between the universities of Gothenburg, Lund, Linköping, Uppsala and Umeå, as well as the Karolinska Institute in Stockholm. In Linköping, about 5,000 persons participated. The investigators have now screened 4762 persons from the SCAPIS study for this variant and found it in little less than 6%. Overall, patients with the variant had more often been diagnosed with HT and were mote often treated for HT as well. Interestingly, this difference was only found in men. The investigators now want to investigate the following: 1. identify those persons with the genetic variant and HT that have PA, 2. identify those persons with PA that have APAs/unilateral disease, 3. identify how many patients with APAs/unilateral disease can be cured by surgery.

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