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Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

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  • Alexander Teumer
  • Layal Chaker
  • Stefan Groeneweg
  • Yong Li
  • Celia Di Munno
  • Caterina Barbieri
  • Ulla T Schultheiss
  • Michela Traglia
  • Tarunveer S Ahluwalia
  • Masato Akiyama
  • Emil Vincent R Appel
  • Dan E Arking
  • Alice Arnold
  • Arne Astrup
  • Marian Beekman
  • John P Beilby
  • Sofie Bekaert
  • Eric Boerwinkle
  • Suzanne J Brown
  • Marc De Buyzere
  • Purdey J Campbell
  • Graziano Ceresini
  • Charlotte Cerqueira
  • Francesco Cucca
  • Joris Deelen
  • Kai-Uwe Eckardt
  • Arif B Ekici
  • Johan G Eriksson
  • Luigi Ferrrucci
  • Tom Fiers
  • Edoardo Fiorillo
  • Ian Ford
  • Caroline S Fox
  • Christian Fuchsberger
  • Tessel E Galesloot
  • Christian Gieger
  • Martin Gögele
  • Alessandro De Grandi
  • Niels Grarup
  • Karin Halina Greiser
  • Kadri Haljas
  • Torben Hansen
  • Diana van Heemst
  • Martin den Heijer
  • Andrew A Hicks
  • David C M Liewald
  • Paul Redmond
  • David J Stott
  • Youri E. Taes
  • Daniel Taliun
  • Tanaka Toshiko
  • Betina Thuesen
  • Daniel Tiller
  • Daniela Toniolo
  • Andre G. Uitterlinden
  • W. Edward Visser
  • John P Walsh
  • Scott G. Wilson
  • Bruce H R Wolffenbuttel
  • Qiong Yang
  • Hou-Feng Zheng
  • Anne R. Cappola
  • Robin P. Peeters
  • Silvia Naitza
  • Henry Völzke
  • Serena Sanna
  • Anna Köttgen
  • Theo J. Visser
  • Marco Medici

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Original languageEnglish
Pages (from-to)1-14
JournalNature Communications
Volume9
Issue number1
DOIs
Publication statusPublished - 26 Oct 2018

Abstract

Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits. A genetic risk score, calculated to assess their combined effects on clinical end points, shows significant associations with increased risk of both overt (Graves' disease) and subclinical thyroid disease, as well as clinical complications. By functional follow-up on selected signals, we identify a novel thyroid hormone transporter (SLC17A4) and a metabolizing enzyme (AADAT). Together, these results provide new knowledge about thyroid hormone physiology and disease, opening new possibilities for therapeutic targets.

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