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

@article{Han2013CommonGV,
  title={Common genetic variants of the human uromodulin gene regulate transcription and predict plasma uric acid levels.},
  author={Jia Gang Han and Ying Liu and Fangwen Rao and Caroline M Nievergelt and Daniel T. O'Connor and Xingyu Wang and Lisheng Liu and Dingfang Bu and Yu Liang and Fang Wang and Luxia Zhang and Hong Zhang and Yuqing Chen and Haiyan Wang},
  journal={Kidney international},
  year={2013},
  volume={83 4},
  pages={
          733-40
        }
}
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 and siblings of European and Hispanic ancestry. Transcriptional activity of… CONTINUE READING
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