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DIO2 Gene Polymorphism

Meaning

A DIO2 gene polymorphism refers to a common variation, specifically a single nucleotide polymorphism (SNP), within the Deiodinase Type 2 gene, often designated as rs225014. This genetic difference alters the structure of the Type 2 deiodinase enzyme, which is crucial for converting the relatively inactive thyroxine (T4) into the biologically active triiodothyronine (T3) within peripheral tissues. Individuals carrying this specific polymorphism may experience reduced enzyme efficiency, potentially impacting local T3 availability. This variation is significant in personalized hormonal health, especially concerning thyroid hormone metabolism and patient response to standard T4 replacement therapy.