Article
The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution.
Journal of the American Society of Nephrology : JASN - 1 Oct 2016
Ghirotto Silvia, Tassi Francesca, Barbujani Guido, Pattini Linda, Hayward Caroline, Vollenweider Peter, Bochud Murielle, Rampoldi Luca, Devuyst Olivier
Abstract excerpt
Common variants in the UMOD gene encoding uromodulin, associated with risk of hypertension and CKD in the general population, increase UMOD expression and urinary excretion of uromodulin, causing salt-sensitive hypertension and renal lesions. To determine the effect of selective pressure on variant frequency, we investigated the allelic frequency of the lead UMOD variant rs4293393 in 156 human populations, in...
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