title: [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.affiliation: Department of Infection Control, Clinical Laboratory Medicine, Dokkyo Medical University.
authors.forename: Akira
authors.initials: A
authors.lastname: Hishinuma
mesh_terms: D055106:Genome-Wide Association Study; D006111:Graves Disease / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011989:Receptors, Thyrotropin / Q000235:genetics; D050033:Thyroid Dysgenesis / Q000235:genetics*
chemical_list: D011989:Receptors, Thyrotropin