Recessive loss-of-function mutations in genes involved in renal NaCl handling cause rare diseases characterized by salt wasting and reduced blood pressure of variable severity. A new study shows that the carrier state for rare inactivating mutations in three genes involved in NaCl transport in the kidney is associated with a significant blood pressure reduction and a reduced risk of hypertension in the general population.
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Devuyst, O. Salt wasting and blood pressure. Nat Genet 40, 495–496 (2008). https://doi.org/10.1038/ng0508-495
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