title: Thr92Ala polymorphism of human type 2 deiodinase gene (hD2) affects the development of Graves' disease, treatment efficiency, and rate of remission.
abstract: Clinical symptoms vary in thyrotoxicosis, and severity of these depends on many factors. Over the last years, impact of genetic factors upon the development and clinical significance of thyrotoxic symptoms became evident. It is known that a production of T3 in various tissues is limited by deiodinase 2 (D2). Recent studies revealed that certain single nucleotide polymorphisms (including threonine (Thr) to alanine (Ala) replacement in D2 gene codon 92, D2 Thr92Ala) affect T3 levels in tissues and in serum. Individuals with Ala92Ala genotype have lower D2 activity in tissues, compared with that in individuals with other genotypes. In our study, we have assessed an association of D2 Thr92Ala polymorphism with (1) frequency of disease development, (2) severity of clinical symptoms of thyrotoxicosis, and (3) rate of remissions, in Graves' disease patients.
authors.affiliation: Institute of Endocrinology, Almazov Federal Heart, Blood and Endocrinology Centre, 2 Akkuratova Street, Saint-Petersburg 197541, Russia. alina babenko@mail.ru
authors.forename: Babenko
authors.initials: B
authors.lastname: Alina
authors.forename: Popkova
authors.initials: P
authors.lastname: Daria
authors.forename: Freylihman
authors.initials: F
authors.lastname: Olga
authors.forename: Solncev
authors.initials: S
authors.lastname: Vladislav
authors.forename: Kostareva
authors.initials: K
authors.lastname: Anna
authors.forename: Grineva
authors.initials: G
authors.lastname: Elena
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006111:Graves Disease / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007453:Iodide Peroxidase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013971:Thyrotoxicosis / Q000201:enzymology / Q000235:genetics; D000097564:Iodothyronine Deiodinase Type II
chemical_list: D007453:Iodide Peroxidase; D000097564:Iodothyronine Deiodinase Type II