Item Type: | Article |
---|---|
Title: | Molekulargenetik der humanen Hypertonie [Molecular genetics of human hypertension] |
Creators Name: | Luft, F.C. |
Abstract: | A genetic influence on blood pressure was demonstrated more than 100 years ago and a simple Mendelian inheritance was initially presumed. Platt and Pickering conducted a lively debate on this topic. Platt favored the idea that a single gene or only a few genes were responsible for high blood pressure. Pickering presented research results, which supported the assumption that many genes exerted an influence on blood pressure. This was all in a period when it was not even known what genes were. Genome-wide association studies (GWAS) according to the Pickering model have identified > 500 blood pressure relevant gene loci, which are distributed over the whole genome. Each individual gene exerts only a small effect on blood pressure. The dark horses of hypertension research are the secondary causes. In pheochromocytoma, primary aldosteronism, Cushing's syndrome and even fibromuscular dysplasia (renovascular hypertension) the results indicate that a genetic cause regularly underlies secondary hypertension. This would therefore also partially confirm Platt's theory. In the meantime, a multitude of forms of hypertension have been described with a genetic inheritance according to Mendel. Each of these genetic variants exerts a considerable influence on blood pressure. A multitude of novel physiological mechanisms were explained by this. These findings will become therapeutically important. Therefore, it is incumbent upon clinicians to be optimally informed about these research results. |
Keywords: | Inheritance, Genetic Models, Single Nucleotide Polymorphisms, Genome-Wide Association Study, Secondary Hypertension |
Source: | Internist |
ISSN: | 0020-9554 |
Publisher: | Springer |
Volume: | 62 |
Number: | 3 |
Page Range: | 223-235 |
Date: | March 2021 |
Official Publication: | https://doi.org/10.1007/s00108-021-00979-1 |
PubMed: | View item in PubMed |
Repository Staff Only: item control page