Aquaporin5-SNP – Polymorphism in the human AQP5-gene for numerous pharmacogenetic applications
Enclosed is a new functionally relevant single nucleotide
polymorphism (SNP) in the promoter region of the human Aquaporin (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.
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