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

Authors :
Yolande F. M. Ramos
Tom Fiers
Jari Lahti
Tarunveer S. Ahluwalia
Elisa Kasbohm
Silvia Naitza
Hou-Feng Zheng
Charlotte Cerqueira
Ingrid Meulenbelt
Betina H. Thuesen
Ernst Rietzschel
Anne R. Cappola
John P. Walsh
Alessandro De Grandi
Johan G. Eriksson
Suzanne J. Brown
Jiaojiao Jing
Deborah Mascalzoni
Nicole Soranzo
Daniel Taliun
Margreet Kloppenburg
Purdey J Campbell
Kai-Uwe Eckardt
Yong Li
Mauro Pala
Marco Medici
Florian Kronenberg
Caterina Barbieri
Francesco Cucca
Allan Linneberg
Anna Köttgen
Bruce M. Psaty
Eric Boerwinkle
Ian J. Deary
Jennie Hui
Joris Deelen
Matthijs Moed
Astrid Petersmann
Graziano Ceresini
Michela Marina
Iris Postmus
Alice M. Arnold
Michiaki Kubo
J. Brent Richards
Marc De Buyzere
Henriette E. Meyer zu Schwabedissen
Eleonora Porcu
Christian Fuchsberger
Celia Di Munno
Dan E. Arking
David J. Stott
Toshiko Tanaka
Sofie Bekaert
Andrew A. Hicks
W. Edward Visser
Wouter den Hollander
Martin Gögele
Cinzia Sala
Peter P. Pramstaller
Georg Homuth
Yukinori Okada
Arne Astrup
Arif B. Ekici
Ulla T. Schultheiss
Richard A. Jensen
Christa Meisinger
Romana T. Netea-Maier
Rafael T. Mikolajczyk
Theo J. Visser
Marian Beekman
Michela Traglia
David C. Liewald
Koichi Matsuda
Thorkild I. A. Sørensen
Ilja M. Nolte
André G. Uitterlinden
David Schlessinger
Luigi Ferrrucci
Shuo Li
Alexander Teumer
Daniel Tiller
Sarah E. Harris
J. Wouter Jukema
Rajesh Rawal
Tim De Meyer
Kadri Haljas
Greet Roef
Yoichiro Kamatani
Karin Halina Greiser
Jean-Marc Kaufman
Serena Sanna
Bruce H. R. Wolffenbuttel
Scott Wilson
Daniela Toniolo
Ee Mun Lim
Stefan Groeneweg
Caroline S. Fox
Torben Hansen
Masato Akiyama
Christian Gieger
Layal Chaker
Tim D. Spector
Ian Ford
Martin den Heijer
P. Eline Slagboom
Elizabeth Selvin
Lambertus A. Kiemeney
Emil V. R. Appel
Niels Grarup
Diana van Heemst
Youri Taes
Robin P. Peeters
Henry Völzke
Cristian Pattaro
Daniel Medenwald
John M. Starr
Qiong Yang
Jerome I. Rotter
M. Arfan Ikram
Edoardo Fiorillo
Till Ittermann
Oluf Pedersen
Eero Kajantie
John Beilby
Tessel E. Galesloot
Fernando Rivadeneira
Paul Redmond
Bruno Lapauw
Lifelines Cohort Study
Alizadeh, B.Z.
Boezen, H.M.
Franke, L.
van der Harst, P.
Navis, G.
Rots, M.
Snieder, H.
Swertz, M.A.
Wijmenga, C.
Life Course Epidemiology (LCE)
Lifestyle Medicine (LM)
Center for Liver, Digestive and Metabolic Diseases (CLDM)
Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
Johan Eriksson / Principal Investigator
Department of General Practice and Primary Health Care
Clinicum
University of Helsinki
Department of Psychology and Logopedics
Doctoral Programme in Cognition, Learning, Instruction and Communication
Medicum
Lastentautien yksikkö
Children's Hospital
HUS Children and Adolescents
Developmental Psychology Research Group
Internal medicine
AGEM - Endocrinology, metabolism and nutrition
Amsterdam Movement Sciences - Rehabilitation & Development
Amsterdam Movement Sciences - Restoration and Development
APH - Aging & Later Life
Epidemiology
Internal Medicine
Teumer, Alexander [0000-0002-8309-094X]
Ahluwalia, Tarunveer S [0000-0002-7464-3354]
Appel, Emil Vincent R [0000-0001-7704-6611]
Astrup, Arne [0000-0001-8968-8996]
Beekman, Marian [0000-0003-0585-6206]
Beilby, John P [0000-0002-4915-2254]
Ekici, Arif B [0000-0001-6099-7066]
Grarup, Niels [0000-0001-5526-1070]
Hansen, Torben [0000-0001-8748-3831]
Hicks, Andrew A [0000-0001-6320-0411]
Ikram, M Arfan [0000-0003-0372-8585]
Jukema, J Wouter [0000-0002-3246-8359]
Kamatani, Yoichiro [0000-0001-8748-5597]
Kronenberg, Florian [0000-0003-2229-1120]
Lahti, Jari [0000-0002-4310-5297]
Li, Shuo [0000-0003-2331-2448]
Liewald, David CM [0000-0002-0544-7368]
Linneberg, Allan [0000-0002-0994-0184]
Mascalzoni, Deborah [0000-0003-4156-1464]
Meulenbelt, Ingrid [0000-0001-7786-7081]
Netea-Maier, Romana T [0000-0002-9603-0460]
Nolte, Ilja M [0000-0001-5047-4077]
Okada, Yukinori [0000-0002-0311-8472]
Ramos, Yolande FM [0000-0003-1459-413X]
Richards, J Brent [0000-0002-3746-9086]
Soranzo, Nicole [0000-0003-1095-3852]
Yang, Qiong [0000-0002-3658-1375]
Köttgen, Anna [0000-0002-4671-3714]
Apollo - University of Cambridge Repository
Source :
Nature communications, vol. 9, no. 1, pp. 4455, Nature Communications, 9(1):4455. Nature Publishing Group, Nature Communications, 9, Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018), Nature Communications, Teumer, A, Chaker, L, Groeneweg, S, Li, Y, Di Munno, C, Barbieri, C, Ahluwalia, T S, Astrup, A, Linneberg, A, Pedersen, O B, Sørensen, T I A & ThyroidOmics Consortium 2018, ' Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation ', Nature Communications, vol. 9, 4455 . https://doi.org/10.1038/s41467-018-06356-1, Nat. Commun. 9:4455 (2018), Lifelines Cohort Study 2018, ' Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation ', Nature Communications, vol. 9, no. 1, 4455 . https://doi.org/10.1038/s41467-018-06356-1, Nat Commun, Nature Communications, 9:4455. Nature Publishing Group, Teumer, A, Chaker, L, Groeneweg, S, Li, Y, Di Munno, C, Barbieri, C, Schultheiss, U T, Traglia, M, Ahluwalia, T S, Akiyama, M, Appel, E V R, Arking, D E, Arnold, A, Astrup, A, Beekman, M, Beilby, J P, Bekaert, S, Boerwinkle, E, Brown, S J, De Buyzere, M, Campbell, P J, Ceresini, G, Cerqueira, C, Cucca, F, Deary, I J, Deelen, J, Eckardt, K-U, Ekici, A B, Eriksson, J G, Ferrrucci, L, Fiers, T, Fiorillo, E, Ford, I, Fox, C S, Fuchsberger, C, Galesloot, T E, Gieger, C, Gögele, M, De Grandi, A, Grarup, N, Greiser, K H, Haljas, K, Hansen, T, Harris, S E, van Heemst, D, den Heijer, M, Hicks, A A, Liewald, D C M, Redmond, P, Starr, J M, Stott, D J, Taes, Y E, Taliun, D, Toshiko, T, Thuesen, B, Tiller, D, Toniolo, D, Uitterlinden, A G, Visser, W E, Walsh, J P, Wilson, S G, Wolffenbuttel, B H R, Yang, Q, Zheng, H-F, Cappola, A R, Peeters, R P, Naitza, S, Völzke, H, Sanna, S, Köttgen, A, Visser, T J & Medici, M 2018, ' Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation ', Nature Communications, vol. 9, no. 1, pp. 1-14 . https://doi.org/10.1038/s41467-018-06356-1, NATURE COMMUNICATIONS
Publication Year :
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.<br />Thyroid dysfunction is a common public health problem and associated with cardiovascular co-morbidities. Here, the authors carry out genome-wide meta-analysis for thyroid hormone (TH) levels, hyper- and hypothyroidism and identify SLC17A4 as a TH transporter and AADAT as a TH metabolizing enzyme.

Subjects

Subjects :
0301 basic medicine
Genetic variants
endocrine system diseases
Vascular damage Radboud Institute for Health Sciences [Radboudumc 16]
Thyroid Gland
Thyrotropin
Metabolyzing hormone (AADAT)
General Physics and Astronomy
EFFICIENT
Genome-wide association study
Thyroid hormone transporter (SLC17A4)
Disease
VARIANTS
Bioinformatics
Hyperthyroidism
DISEASE
0302 clinical medicine
SUBCLINICAL HYPOTHYROIDISM
Risk Factors
Genome-wide analysis
Chlorocebus aethiops
Faculty of Science
Medicine
lcsh:Science
POPULATION
RISK
education.field_of_study
Multidisciplinary
HERITABILITY
Thyroid disease
Thyroid
Thyroid dysfunction
ASSOCIATION
3. Good health
medicine.anatomical_structure
Urological cancers Radboud Institute for Health Sciences [Radboudumc 15]
COS Cells
Thyroid function
Sodium-Phosphate Cotransporter Proteins, Type I
Thyroid Hormones
endocrine system
PARTICIPANT DATA-ANALYSIS
Science
Population
030209 endocrinology & metabolism
Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9]
Polymorphism, Single Nucleotide
White People
Article
General Biochemistry, Genetics and Molecular Biology
MONOCARBOXYLATE TRANSPORTER-8
03 medical and health sciences
All institutes and research themes of the Radboud University Medical Center
Hypothyroidism
Animals
Humans
ddc:610
education
METAANALYSIS
Genetic association
2-Aminoadipate Transaminase
IDENTIFICATION
business.industry
Biology and Life Sciences
Biological Transport
General Chemistry
REFERENCE RANGE
medicine.disease
R1
2-Aminoadipate Transaminase/genetics
2-Aminoadipate Transaminase/metabolism
Cercopithecus aethiops
European Continental Ancestry Group
Gene Expression Regulation/genetics
Genome-Wide Association Study
Hyperthyroidism/genetics
Hyperthyroidism/physiopathology
Hypothyroidism/genetics
Hypothyroidism/physiopathology
Sodium-Phosphate Cotransporter Proteins, Type I/genetics
Sodium-Phosphate Cotransporter Proteins, Type I/metabolism
Thyroid Gland/metabolism
Thyroid Gland/physiopathology
Thyroid Hormones/genetics
Thyroid Hormones/metabolism
Thyrotropin/metabolism
030104 developmental biology
Gene Expression Regulation
ATRIAL-FIBRILLATION
lcsh:Q
3111 Biomedicine
business
Thyroid hormone regulation
Hormone

Details

ISSN :
20411723
Volume :
9
Database :
OpenAIRE
Journal :
Nature Communications
Accession number :
edsair.doi.dedup.....121e7b6174ad0cbd3fcf7d39e1f917e5
Full Text :
https://doi.org/10.1038/s41467-018-06356-1