Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels

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 i...

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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
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Acceso en línea:https://doaj.org/article/180796564ad94848948b76417618b4ad
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spelling oai:doaj.org-article:180796564ad94848948b76417618b4ad2021-12-02T15:34:07ZLarge-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels10.1038/s41467-018-06620-42041-1723https://doaj.org/article/180796564ad94848948b76417618b4ad2018-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-06620-4https://doaj.org/toc/2041-1723Elevated 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.Adrienne TinYong LiJennifer A. BrodyTeresa NutileAudrey Y. ChuJennifer E. HuffmanQiong YangMing-Huei ChenCassianne Robinson-CohenAurélien MacéJun LiuAyşe DemirkanRossella SoriceSanaz SedaghatMelody SwenBing YuSahar GhasemiAlexanda TeumerPeter VollenweiderMarina CiulloMeng LiAndré G. UitterlindenRobert KraaijNajaf AminJeroen van RooijZoltán KutalikAbbas DehghanBarbara McKnightCornelia M. van DuijnAlanna MorrisonBruce M. PsatyEric BoerwinkleCaroline S. FoxOwen M. WoodwardAnna KöttgenNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
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
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
description 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.
format article
author 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
author_facet 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
author_sort Adrienne Tin
title Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
title_short Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
title_full Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
title_fullStr Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
title_full_unstemmed Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
title_sort large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
publisher Nature Portfolio
publishDate 2018
url https://doaj.org/article/180796564ad94848948b76417618b4ad
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