Aquaporin5-SNP – Functional genetic polymorphism (SNP) in the human AQP5 gene for numerous pharmacogenetic applications

Enclosed is a new functionally relevant SNP in the promoter region of the human AQP5 gene, which encodes a water channel protein and plays a fundamental role in the maintenance of water homeostasis in all kinds of tissues. Distinct genotypes of the SNP determine the tissue expression of AQP5 and influence the risk for a variety of diseases (like cancer, diabetes, cardiovascular or lung diseases), the progression thereof and the effects of pharmacological and non-pharmacological therapies.

Commercial Opportunities Genotyping of this SNP might allow identifying responders and non-responders under therapy which affect the renin-angiotensin system (e.g. renin, aldosteron or ACE inhibitors or angiotnsin receptor blockers). The AQP5-SNP will also be useful in the identification of new drug targets. As many drugs act on or at least influence signal transduction and water homeostasis, prediction of the efficacy and adverse effects as well as dose adjustments of numerous drugs is possible. Thus the AQP5-SNP will also be valuable for personalized medicine.

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