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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	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:	Artigo
Idioma:	Inglês
Publicado em:	Nature Portfolio 2018-10-01
coleção:	Nature Communications
Acesso em linha:	https://doi.org/10.1038/s41467-018-06620-4
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!