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Article

Common genetic variants of the human uromodulin gene regulate transcription and predict plasma uric acid levels.

Kidney international - 1 Apr 2013

Han Jia, Liu Ying, Rao Fangwen, Nievergelt Caroline M, O'Connor Daniel T, Wang Xingyu, Liu Lisheng, Bu Dingfang, Liang Yu, Wang Fang, Zhang Luxia, Zhang Hong, Chen Yuqing, Wang Haiyan

Abstract excerpt

Uromodulin (UMOD) genetic variants cause familial juvenile hyperuricemic nephropathy, characterized by hyperuricemia with decreased renal excretion of UMOD and uric acid, suggesting a role for UMOD in the regulation of plasma uric acid. To determine this, we screened common variants across the UMOD locus in one community-based Chinese population of 1000 individuals and the other population from 642 American twins...

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Identifiers

PMID: 23344472
DOI: 10.1038/ki.2012.449
PMCID: PMC3687544

Genes

UMOD

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Common genetic variants of the human uromodulin gene regulate transcription and predict plasma uric acid levels.PMID 23344472Read ↗

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