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
Thyroxine measurement
CUI: C0202231
Disease: Thyroxine measurement
0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059 2018
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
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.030 GeneticVariation BEFREE Seven SNPs in the DIO2 gene - rs225014 (Thr92Ala), rs12885300, rs2267872, rs225011, rs224995, rs225015, and rs2267873 - were studied to assess their association with GD and GO. 30574458 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE In addition, African American carriers of Thr92Ala-DIO2 exhibit an about 30% higher risk of developing Alzheimer's disease. 30063552 2018
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE There are a number of reports describing the association between the Thr92Ala-DIO2 polymorphism and clinical syndromes that include hypertension, type 2 diabetes, mental disorders, lung injury, bone turnover, and autoimmune thyroid disease; but these associations have not been reproduced in all population studies. 30063552 2018
Thyroid associated opthalmopathies
CUI: C0339143
Disease: Thyroid associated opthalmopathies
0.010 GeneticVariation BEFREE Seven SNPs in the DIO2 gene - rs225014 (Thr92Ala), rs12885300, rs2267872, rs225011, rs224995, rs225015, and rs2267873 - were studied to assess their association with GD and GO. 30574458 2018
Hashimoto Disease
CUI: C0677607
Disease: Hashimoto Disease
0.010 GeneticVariation BEFREE In the D2 rs225014 polymorphism, the TT genotype, which was correlated with higher D2 activity, was less frequent in AITD, especially in HD, than in control subjects (P = 0.0032 and 0.0002, respectively). 29648895 2018
Thyroid Hormone Metabolism, Abnormal
0.010 GeneticVariation BEFREE Two patients with clinical evidence of abnormal thyroid hormone metabolism were identified and found to have TSHR mutations as well as DIO2 T92A single nucleotide polymorphism (SNP). 29973617 2018
Degenerative disorder
CUI: C1285162
Disease: Degenerative disorder
0.010 GeneticVariation BEFREE Indeed, brain samples of Thr92Ala-DIO2 carriers exhibit gene profiles suggestive of brain degenerative disease. 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
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.030 GeneticVariation BEFREE In both groups, the D2-Thr92Ala polymorphism was not associated with differences in TSH, fT4, fT3, the fT3/fT4 ratio, presence of metabolic syndrome or other comorbidities, use of medication, HRQoL, and cognitive functioning. 27786042 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE Homozygosity for the Dio2 Thr92Ala polymorphism is associated with higher HbA1C levels in T2DM patients. 27777960 2016
Kashin-Beck Disease
CUI: C2745963
Disease: Kashin-Beck Disease
0.020 GeneticVariation BEFREE The meta-analysis of the GPX1 rs1050450, DIO2 rs225014, TrxR2 rs5748469 and HLA-DRB1 rs7745040 failed to reveal any associations with KBD. 27256326 2016
Recurrent depressive disorder
CUI: C0349218
Disease: Recurrent depressive disorder
0.010 GeneticVariation BEFREE The specific variant of the DIO2 gene, namely the CC genotype of the Thr92Ala polymorphism, was more frequently found in healthy subjects than in patients with depression, what suggests that it could potentially serve as a marker of a lower risk for recurrent depressive disorder. 26098717 2015
Recurrent depression
CUI: C0221480
Disease: Recurrent depression
0.010 GeneticVariation BEFREE The current study investigates whether a specific single nucleotide polymorphism (SNP) of the DIO2 gene, Thr92Ala (T/C); rs 225014 or ORFa-Gly3Asp (C/T); rs 12885300, correlate with the risk for recurrent depression. 26098717 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE In conclusion, the rs225017 polymorphism is associated with greater IR in T2DM and it seems to interact with the Thr92Ala polymorphism in the modulation of IR. 25105294 2014
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
Kashin-Beck Disease
CUI: C2745963
Disease: Kashin-Beck Disease
0.020 GeneticVariation BEFREE In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs1800668 and rs3811699), TrxR2 (rs5748469), and DIO2 (rs225014) may not be significantly associated with KBD in a Tibetan population. 24058403 2013
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.010 GeneticVariation BEFREE Prevalence of Dio2(T92A) polymorphism and its association with thyroid autoimmunity. 23013882 2013
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE The Thr92Ala variant common in Pima Indians, rs225011, and rs225015 were modestly associated with early-onset T2DM (p=0.01-0.04) in the case-control study, but were not associated with obesity in the obesity case-control study, nor associated with T2DM (at any age) or body-mass index (BMI; as a quantitative trait) in the family-based analysis. 22142372 2012
Obesity
CUI: C0028754
Disease: Obesity
0.020 GeneticVariation BEFREE The Thr92Ala variant common in Pima Indians, rs225011, and rs225015 were modestly associated with early-onset T2DM (p=0.01-0.04) in the case-control study, but were not associated with obesity in the obesity case-control study, nor associated with T2DM (at any age) or body-mass index (BMI; as a quantitative trait) in the family-based analysis. 22142372 2012
Degenerative polyarthritis
CUI: C0029408
Disease: Degenerative polyarthritis
0.010 GeneticVariation BEFREE The allelic imbalance of the DIO2 mRNA transcript, with the OA risk allele 'C' of rs225014 more abundant than the wild-type 'T' allele in heterozygote carriers provides a possible mechanism by which genetic variation at DIO2 confers OA risk. 22492780 2012
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.030 GeneticVariation BEFREE Recently, it was reported that the D2 Thr92Ala (rs225014) and the peroxisome proliferator-activated receptor (PPAR) γ2 Pro12Ala (rs1801282) polymorphisms interact in the modulation of metabolic syndrome in nondiabetic subjects. 20930717 2011