Cited by 107Thyroid Disorders and TreatmentsGenetic Associations and EpidemiologyThyroid Cancer Diagnosis and Treatment

Genetic variation in thyroid hormone pathway genes; polymorphisms in the TSH receptor and the iodothyronine deiodinases

Peeters, Robin P, van der Deure, Wendy M, Visser, Theo J·2006·European Journal of Endocrinology

Abstract

Serum thyroid parameters show substantial inter-individual variability, in which genetic variation is a major factor. Findings in patients with subclinical hyper- and hypothyroidism illustrate that even minor alterations in serum thyroid function tests can have important consequences for a variety of thyroid hormone-related clinical endpoints, such as atherosclerosis, bone mineral density, obesity, and heart rate. In the last few years, several studies described polymorphisms in thyroid hormone pathway genes that alter serum thyroid function tests. In this review, we discuss the genetic variation in the TSH receptor and iodothyronine deiodinases. We discuss the possible consequences of these studies for the individual patient and also the new insights in thyroid hormone action that can be obtained from these data.

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Crossref · 10.1530/eje.1.02279

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Authors
Peeters, R. P., van der Deure, W. M., & Visser, T. J.
Affiliations
Erasmus MC (NL)
Corresponding author
Peeters, Robin P
Venue
European Journal of Endocrinology
Published
2006-11
Volume
155
Issue
5
Pages
655-662
ISSN
  • 0804-4643 (ISSN-L)
  • 1479-683X
OpenAlex
W2127342300
Cited by
107
References
65
Citations by year
2026: 1 · 2025: 3 · 2024: 1 · 2023: 2 · 2022: 4 · 2021: 5 · 2020: 4 · 2019: 3 · 2018: 4 · 2017: 2 · 2016: 3 · 2015: 7 · 2014: 6 · 2013: 9 · 2012: 10
FWCI
5.00
Type
journal article
Language
en
Open access
closed
Locations
  • European Journal of Endocrinology (publishedVersion)
  • PubMed (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
Funders
ZonMw
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Cancer Diagnosis and Treatment
Keywords
genetic polymorphism, TSH receptor, iodothyronine deiodinase, subclinical hyperthyroidism, subclinical hypothyroidism, thyroid hormone action, atherosclerosis, bone mineral density, obesity, heart rate
MeSH terms
Animals, Humans, Iodide Peroxidase, Isoenzymes, Polymorphism, Genetic, Receptors, Thyrotropin, Thyroid Hormones, Triiodothyronine, Triiodothyronine, Reverse, Genetic Variation, Polymorphism, Single Nucleotide

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