Genome-wide association studies for thyroid physiology and diseases

Satoshi Narumi

Research output: Contribution to journalReview articlepeer-review


Genetic factors are involved in the etiology of most diseases, but prior to 2000, the methods for identifying such factors were very limited. Genome-wide association study (GWAS), developed in the 2000s, is an analytical method that can be applied to most diseases, including endocrine disorders. GWAS has provided a wealth of information on disease risks and the molecular pathogenesis of many human diseases. This review summarizes key findings from GWAS for thyroid physiology and diseases, and illustrates how GWAS is a powerful research tool to elucidate the molecular mechanisms of the diseases.

Original languageEnglish
Pages (from-to)9-17
Number of pages9
JournalEndocrine journal
Issue number1
Publication statusPublished - 2023
Externally publishedYes


  • Genetics
  • Genome-wide association study
  • Thyroid cancer
  • Thyroid dysgenesis
  • Thyroid function test

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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