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

Autor: 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

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)

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 level

Externí odkaz: https://doaj.org/article/180796564ad94848948b76417618b4ad

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

Autor: Robert Kraaij, Teresa Nutile, Peter Vollenweider, Cassianne Robinson-Cohen, Caroline S. Fox, André G. Uitterlinden, Sanaz Sedaghat, Cornelia M. van Duijn, Alanna C. Morrison, Meng Li, Bing Yu, Sahar Ghasemi, Zoltán Kutalik, Eric Boerwinkle, Alexanda Teumer, Jeroen van Rooij, Qiong Yang, Audrey Y. Chu, Jennifer E. Huffman, Bruce M. Psaty, Jun Liu, Najaf Amin, Jennifer A. Brody, Adrienne Tin, Rossella Sorice, Ming-Huei Chen, Marina Ciullo, Anna Köttgen, Yong Li, Ayse Demirkan, Owen M. Woodward, Melody Swen, Abbas Dehghan, Aurélien Macé, Barbara McKnight

Publikováno v: Nature Communications
Nature communications 9 (2018). doi:10.1038/s41467-018-06620-4
info:cnr-pdr/source/autori:Tin A.; Li Y.; Brody J.A.; Nutile T.; Chu A.Y.; Huffman J.E.; Yang Q.; Chen M.-H.; Robinson-Cohen C.; Mace A.; Liu J.; Demirkan A.; Sorice R.; Sedaghat S.; Swen M.; Yu B.; Ghasemi S.; Teumer A.; Vollenweider P.; Ciullo M.; Li M.; Uitterlinden A.G.; Kraaij R.; Amin N.; van Rooij J.; Kutalik Z.; Dehghan A.; McKnight B.; van Duijn C.M.; Morrison A.; Psaty B.M.; Boerwinkle E.; Fox C.S.; Woodward O.M.; Kottgen A./titolo:Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels/doi:10.1038%2Fs41467-018-06620-4/rivista:Nature communications/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume:9
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Nature Communications, 9:4228. Nature Publishing Group
Nature communications, vol. 9, no. 1, pp. 4228

Elevated serum urate levels can cause gout, an excruciating disease with suboptimal treatment. Previous GWAS identified common variants with modest effects on serum urate. Here we report large-scale whole-exome sequencing association studies of serum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09617704df3edc2b2becb350d2b1af49
https://doi.org/10.1038/s41467-018-06620-4