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Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
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Genetics of thyroid function.

Marco Medici1, Theo J Visser1, Robin P Peeters1

  • 1Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus Medical Center, Rotterdam, The Netherlands.

Best Practice & Research. Clinical Endocrinology & Metabolism
|June 27, 2017
PubMed
Summary
This summary is machine-generated.

Genetic factors significantly influence thyroid function (thyroid-stimulating hormone and free thyroxine levels). This review systematically overviews studies identifying these genetic determinants and their clinical implications.

Keywords:
HPT axisgeneticgenome-wide associationthyroid functionwhole-genome sequencing

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Subtle variations in thyroid function, including subclinical dysfunction, are linked to increased morbidity and mortality.
  • Genetic factors account for a substantial portion (40-65%) of inter-individual variation in serum thyroid hormone levels (TSH and FT4).

Purpose of the Study:

  • To systematically review genetic studies investigating thyroid function.
  • To highlight the evolution of genetic research methods in this field.
  • To discuss future directions and clinical applications of genetic findings in thyroid disease management.

Main Methods:

  • Review of linkage studies and candidate gene association studies.
  • Analysis of genome-wide association studies (GWAS).
  • Inclusion of findings from whole-genome sequencing efforts.

Main Results:

  • Previous linkage and candidate gene studies identified limited genetic factors.
  • Genome-wide association studies and whole-genome sequencing have identified numerous novel genes influencing thyroid function.
  • The review synthesizes strengths and limitations of various genetic study designs.

Conclusions:

  • Genetic research has significantly advanced the understanding of thyroid function regulation.
  • Emerging techniques promise further elucidation of the genetic architecture of thyroid function.
  • Genetic markers hold potential for personalized management strategies in patients with thyroid disorders.