[Genetics of thyroid diseases].

Abstract

This review focuses on recent advances of genetic analysis of thyroid diseases. Genome-wide association study revealed that nine single nucleotide polymorphisms of six different genes are associated with Graves' disease, further requiring functional studies to endorse their significance. Thyroid dysgenesis and dyshormonogenesis are caused by many genes. Among thyroid transcription factors PAX8 is the most frequent cause of thyroid dysgenesis. Six genes of thyroid hormone synthesis pathway account for 80% of patients with thyroid dyshormonogenesis. Increasing evidence suggests founder effects of T354P mutation of NIS gene, C1058R and C1977S mutations of thyroglobulin gene, H723R mutation of PDS gene, and R450H mutation of TSHR gene in Japanese. Whole genome sequencing will definitely elucidate unexpected genes responsible for new disease phenotypes.

• Authors: Akira Hishinuma
• Journal: Nihon rinsho. Japanese journal of clinical medicine (Nihon Rinsho) Vol. 70 Issue 11 Pg. 1885-91 (Nov 2012) ISSN: 0047-1852 [Print] Japan
• PMID: 23214057 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• Receptors, Thyrotropin

Topics

• Genome-Wide Association Study
• Graves Disease (genetics)
• Humans
• Mutation (genetics)
• Polymorphism, Single Nucleotide (genetics)
• Receptors, Thyrotropin (genetics)
• Thyroid Dysgenesis (genetics)