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Kidney Disease Marta Crespo and Clara Barrios

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Genetic Variants in Kidney Diseases

Functional and genetic analysis of polymorphisms of the oestrogen receptors A and B and of the Maxi-K ion channel A and B subunits in patients with treatment resistant hypertension.

Hypertension (HTN) constitutes the first cause of morbidity and mortality due to cardiovascular diseases. Nevertheless, various epidemiological studies show poor HTN control in most cases, where effective HTN control is not usually over 30-40%. Treatment resistant HTN is the main cause of patient referral to HTN hospital units. By treatment resistant HTN we mean HTN which keeps the affected patients at blood pressure levels which are above 140/90 mmHg despite being administered a hypertension treatment of a minimum of three different drugs, one of which is a diuretic. The development of essential HTN depends on the interaction of numerous environmental factors and genes which determine the various intermediary phenotypes leading to each individual’s degree of blood pressure. Comprehensive and well supported knowledge exists in relation to the various environmental factors which can determine blood pressure, but the genetic determining factors are not at all defined. We propose performing a cross-cutting, observational study on a cohort of patients suffering from treatment-resistant HTN and referred for this reason, with secondary HTN being ruled out. The objective is to determine possible genetic variants which are associated with HTN, the functional repercussion of these polymorphisms, specifically in relation to the oestrogen receptors A and B and the maxi-K ion channel A and B subunits. The overall project will study these polymorphisms not just in patients with treatment-resistant HTN, but also in patients with lesser degrees of essential HTN and in healthy controls.