gms | German Medical Science

The pathomechanism of essential hypertension is still not clear. Additionally to aspects of life-style genetic disorders may play a role in the onset and maintanance of the disease. The erythropoietin gene went to major interest since its interaction with vasoactive substances such as endothelin and angiotensin II.

In 400 hypertensive patients and 150 age and gender matched normotensive controls the hypoxia responsive region was analyzed after detection of a new Cytosine-Thymine-polimorphism at position 3434 by DNA-sequencing. Hypertension was defined as BP > 135/85 mmHg in ABDM (24-h-bloodpressure measurement) or normotension under antihypertensive treatment of minimum1 drug.

Hypertensives showed 86,5 CC homocygote alteration compared to 77,2 to matched controls and 13,6 CT heterocygote to 22,8 %. The TT formation has only been observed in 1 patient with hypertension (0,25 %) and not in controls. CC homocygote alterated individuals demondstrated a more severe hypertension and a higher incidence of hypertensive especially renal endorgan damage (endstage renal failure 100 %) than CT and TT formation.

The detected erythropoietin gene polymorphism contributes to a higher prevalence of severe hypertension with serious forms of endorgan damage. Although the regulatory role of the genetic alteration for the hormon has to be investigated the polymorphism at position 3434 seems to be a risk factor for the diagnosis of essential hypertension and the developement of hypertension associated organ dysfunction with a pronounced affection of the kidney.