rs225014, DIO2

N. diseases: 22
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.050 GeneticVariation BEFREE One hypothesis is that a SNP (Thr92Ala) in DIO2 (required for local production of T3 out of T4) interferes with its kinetics and/or action, resulting in a local hypothyroid state in the brain. 31617166 2019
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.050 GeneticVariation BEFREE A new report indicates that carriers of the Thr92Ala-DIO2 polymorphism exhibit lower D2 catalytic activity and localized/systemic hypothyroidism. 30063552 2018
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.050 GeneticVariation BEFREE Thyroidectomized patients carrying Thr92Ala are at increased risk of reduced intracellular and serum T3 concentrations that are not adequately compensated for by LT4, thus providing evidence in favor of customized treatment of hypothyroidism in athyreotic patients. 28324063 2017
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.050 GeneticVariation BEFREE The present study indicates that the combination of polymorphisms in <i>DIO2</i> (rs225014) and <i>MCT10</i> (rs17606253) enhances hypothyroid patients' preference for L-T4 + L-T3 replacement therapy. 28785541 2017
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.050 GeneticVariation BEFREE A polymorphism (Thr92Ala) in the gene encoding the deiodinase 2 (D2) enzyme that converts thyroxine to triiodothyronine in the brain was later identified in about 16% of hypothyroid persons. 22548953 2013