The ABCG2 Q141K hyperuricemia and gout associated variant illuminates the physiology of human urate excretion

Autor: Kazi Mirajul Hoque, Eryn E. Dixon, Raychel M. Lewis, Jordyn Allan, Gregory D. Gamble, Amanda J. Phipps-Green, Victoria L. Halperin Kuhns, Anne M. Horne, Lisa K. Stamp, Tony R. Merriman, Nicola Dalbeth, Owen M. Woodward
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Druh dokumentu: article
ISSN: 2041-1723
63333244
DOI: 10.1038/s41467-020-16525-w
Popis: The common ABCG2 variant Q141K contributes to hyperuricemia and gout risk. Here, using a human interventional study and a new orthologous mouse model, the authors report a tissue specific pathobiology of the Q141K variant, and support a significant role for ABCG2 in urate excretion in both the kidney and intestine.
Databáze: Directory of Open Access Journals