Nature Communications (Oct 2018)
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
- Adrienne Tin,
- Yong Li,
- Jennifer A. Brody,
- Teresa Nutile,
- Audrey Y. Chu,
- Jennifer E. Huffman,
- Qiong Yang,
- Ming-Huei Chen,
- Cassianne Robinson-Cohen,
- Aurélien Macé,
- Jun Liu,
- Ayşe Demirkan,
- Rossella Sorice,
- Sanaz Sedaghat,
- Melody Swen,
- Bing Yu,
- Sahar Ghasemi,
- Alexanda Teumer,
- Peter Vollenweider,
- Marina Ciullo,
- Meng Li,
- André G. Uitterlinden,
- Robert Kraaij,
- Najaf Amin,
- Jeroen van Rooij,
- Zoltán Kutalik,
- Abbas Dehghan,
- Barbara McKnight,
- Cornelia M. van Duijn,
- Alanna Morrison,
- Bruce M. Psaty,
- Eric Boerwinkle,
- Caroline S. Fox,
- Owen M. Woodward,
- Anna Köttgen
Affiliations
- Adrienne Tin
- Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health
- Yong Li
- Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg
- Jennifer A. Brody
- Cardiovascular Health Research Unit, DoM, University of Washington
- Teresa Nutile
- Institute of Genetics and Biophysics “Adriano Buzzati-Traverso” - CNR
- Audrey Y. Chu
- Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute
- Jennifer E. Huffman
- Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute
- Qiong Yang
- Framingham Heart Study, National Heart, Lung, and Blood Institute
- Ming-Huei Chen
- Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute
- Cassianne Robinson-Cohen
- Department of Nephrology, Vanderbilt University Medical Center
- Aurélien Macé
- Department of Computational Biology, University of Lausanne
- Jun Liu
- Department of Epidemiology, Erasmus Medical Center
- Ayşe Demirkan
- Department of Epidemiology, Erasmus Medical Center
- Rossella Sorice
- Institute of Genetics and Biophysics “Adriano Buzzati-Traverso” - CNR
- Sanaz Sedaghat
- Department of Epidemiology, Erasmus Medical Center
- Melody Swen
- Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health
- Bing Yu
- UTHealth School of Public Health
- Sahar Ghasemi
- Institute for Community Medicine, University Medicine Greifswald
- Alexanda Teumer
- Institute for Community Medicine, University Medicine Greifswald
- Peter Vollenweider
- Department of Internal Medicine, Centre Hospitalier Universitaire Vaudois (CHUV)
- Marina Ciullo
- Institute of Genetics and Biophysics “Adriano Buzzati-Traverso” - CNR
- Meng Li
- Department of Physiology, University of Maryland School of Medicine
- André G. Uitterlinden
- Department of Internal Medicine, Erasmus Medical Center
- Robert Kraaij
- Department of Internal Medicine, Erasmus Medical Center
- Najaf Amin
- Department of Epidemiology, Erasmus Medical Center
- Jeroen van Rooij
- Department of Internal Medicine, Erasmus Medical Center
- Zoltán Kutalik
- Institute of Social and Preventive Medicine (IUMSP), Centre Hospitalier Universitaire Vaudois (CHUV)
- Abbas Dehghan
- Department of Epidemiology, Erasmus Medical Center
- Barbara McKnight
- Cardiovascular Health Research Unit, DoM, University of Washington
- Cornelia M. van Duijn
- Department of Epidemiology, Erasmus Medical Center
- Alanna Morrison
- UTHealth School of Public Health
- Bruce M. Psaty
- Cardiovascular Health Research Unit, DoM, University of Washington
- Eric Boerwinkle
- UTHealth School of Public Health
- Caroline S. Fox
- Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute
- Owen M. Woodward
- Department of Physiology, University of Maryland School of Medicine
- Anna Köttgen
- Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health
- DOI
- https://doi.org/10.1038/s41467-018-06620-4
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 11
Abstract
Elevated serum urate levels are a risk factor for gout. Here, Tin et al. perform whole-exome sequencing in 19,517 individuals and detect low-frequency genetic variants in urate transporter genes, SLC22A12 and SLC2A9, associated with serum urate levels and confirm their damaging nature in vitro and in silico.
