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: Babenko Alina, Popkova Daria, Freylihman Olga, Solncev Vladislav, Kostareva Anna, Grineva Elena
• Journal: Clinical & developmental immunology (Clin Dev Immunol) Vol. 2012 Pg. 340542 ( 2012) ISSN: 1740-2530 [Electronic] Egypt
• PMID: 23193417 (Publication Type: Journal Article)

Chemical References

• iodothyronine deiodinase type II
• Iodide Peroxidase

Topics

• Adult
• Case-Control Studies
• Female
• Genotype
• Graves Disease (enzymology, genetics)
• Humans
• Iodide Peroxidase (genetics)
• Male
• Middle Aged
• Polymorphism, Single Nucleotide
• Thyrotoxicosis (enzymology, genetics)