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Tier 3 — Observational / field trialPeer-reviewed

A genome-wide association analysis reveals new pathogenic pathways in gout

Tanya J. Major, Riku Takei, Hirotaka Matsuo, Megan Leask, Nicholas A. Sumpter, Ruth Topless, Yuya Shirai, Wenhua Wei, Murray Cadzow, Amanda Phipps‐Green, Zhiqiang Li, Aichang Ji, Marilyn E. Merriman, Emily Morice, Eric E. Kelley, Wenhua Wei, Sally P.A. McCormick, Matthew J. Bixley, Richard J. Reynolds, Kenneth G. Saag, Tayaza Fadason, Evgeniia Golovina, Justin M. O’Sullivan, Lisa K. Stamp, Nicola Dalbeth, Abhishek Abhishek, Michael Doherty, Edward Roddy, L. Jacobsson, Meliha C Kapetanovic, Olle Melander, Mariano Andrés, Fernando Pérez-Ruiz, Rosa J. Torres, Timothy R. D. J. Radstake, Timothy L. Jansen, M. Janssen, Leo A. B. Joosten, Ruiqi Liu, Orsolya I. Gaal, Tania O. Crișan, Simona Rednic, Fina Kurreeman, T. Huizinga, René E. M. Toes, Frédéric Lioté, Pascal Richette, Thomas Bardin, Hang‐Korng Ea, Tristan Pascart, Géraldine McCarthy, Laura Helbert, Blanka Stibůrková, Anne-K. Tausche, Till Uhlig, Véronique Vitart, Thibaud Boutin, Caroline Hayward, Philip L. Riches, Stuart H. Ralston, Archie Campbell, Thomas M. MacDonald, FAST Study Group, Akiyoshi Nakayama, Tappei Takada, Masahiro Nakatochi, Seiko Shimizu, Yusuke Kawamura, Yu Toyoda, Hirofumi Nakaoka, Ken Yamamoto, Keitaro Matsuo, Nariyoshi Shinomiya, Kimiyoshi Ichida, Chaeyoung Lee, Linda A. Bradbury, Matthew A. Brown, Philip C. Robinson, Russell Buchanan, Catherine Hill, Susan Lester, Malcolm Smith, Maureen Rischmueller, Hyon K. Choi, Eli A. Stahl, Jeff N. Miner, Daniel H. Solomon, Jing Cui, Kathleen M. Giacomini, Deanna J. Brackman, Eric Jorgenson, Hongbo Liu, Katalin Suszták, Suyash Shringapure, Suyash Shringarpure, Alexander So, Yukinori Okada, Changgui Li, Yongyong Shi, Tony R. Merriman

Nature Genetics · 2024

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Summary

This large-scale genome-wide association study identifies novel genetic loci and pathogenic pathways underlying gout susceptibility, expanding understanding of the heritable basis of this inflammatory arthropathy. The findings, drawn from a diverse international cohort, reveal previously uncharacterised genetic mechanisms that may inform future therapeutic targets and risk stratification. As suggested by the authorship and scope, the work represents a significant advance in the genetic architecture of gout beyond established uric acid metabolism pathways.

UK applicability

The genetic findings are applicable to understanding gout risk in UK populations, though the study draws from international cohorts. Results may support development of genetic screening tools and personalised prevention strategies for high-risk individuals in UK clinical practice, complementing existing management guidelines for gout.

Key measures

Genetic variants (single nucleotide polymorphisms, SNPs) associated with gout risk; pathway analysis identifying new biological mechanisms in gout pathogenesis

Outcomes reported

The study identified novel genetic pathways and loci associated with gout susceptibility through genome-wide association analysis across multiple populations. The research characterised new pathogenic mechanisms underlying gout aetiology and risk.

Theme
Nutrition & health
Subject
Dietary patterns & chronic disease
Study type
Research
Study design
Genome-wide association study (GWAS)
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1038/s41588-024-01921-5
Catalogue ID
SNmoj7nui9-nts59u

Topic tags

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