rs225014, DIO2

N. diseases: 22
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.030 GeneticVariation BEFREE This suggests that the Thr92Ala variant of the DIO2 gene is associated or may be in linkage disequilibrium with a functional DIO2 polymorphism which involves in the development of GD in a Russian population. 15542398 2004
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE An association among the Thr92Ala DIO2 variant and type 2 diabetes</span>, indices of insulin resistance (HOMA-IR), insulin secretion, free thyroid hormones, and thyrotropin (TSH) was found. 16356084 2005
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE The DIO2 Thr92Ala variant does not confer an increased risk of T2D, obesity, or insulin resistance. 17077128 2007
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.030 GeneticVariation BEFREE Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome. 18198294 2007
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE The present study evaluated whether a type 2 iodothyronine deiodinase nonsynonymous polymorphism, threonine 92 to alanine (Thr92Ala), is a determinant of hypertension susceptibility. 17224473 2007
Obesity
CUI: C0028754
Disease: Obesity
0.020 GeneticVariation BEFREE We detected no significant association of the DIO2 Thr92Ala polymorphism with T2D or obesity. 17077128 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE We investigated the association of recently identified polymorphisms in the DIO1 (D1a-C/T, D1b-A/G) and DIO2 (D2-ORFa-Gly3Asp, D2-Thr92Ala) genes with circulating thyroid parameters and early neuroimaging markers of AD. 17105838 2007
Osteoarthritis of hip
CUI: C0029410
Disease: Osteoarthritis of hip
0.010 GeneticVariation BEFREE Confirmation and replication by association in the additional osteoarthritis studies indicated a common DIO2 haplotype, exclusively containing the minor allele of rs225014 and common allele of rs12885300, with a combined recessive odds ratio of 1.79, 95% confidence interval (CI) 1.37-2.34 with P = 2.02 x 10(-5) in female cases with advanced/symptomatic hip osteoarthritis. 18334578 2008
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.030 GeneticVariation BEFREE Type 2 deiodinase Thr92Ala polymorphism impact on clinical course and myocardial remodeling in patients with Graves' disease. 19684474 2009
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
0.010 GeneticVariation BEFREE Recent studies showed that certain polymorphisms, including Thr92Ala of D2 gene, are implicated in the development of thyrotoxic symptoms and thyreotoxic cardiomyopathy. 19684474 2009
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE Association of the type 2 deiodinase Thr92Ala polymorphism with type 2 diabetes: case-control study and meta-analysis. 20566590 2010
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
0.010 GeneticVariation BEFREE A single-nucleotide polymorphism in D2 (Thr92Ala) has been associated with increased insulin resistance in nondiabetic and type 2 diabetes (DM2) subjects. 20566590 2010
Dystrophia myotonica 2
CUI: C2931689
Disease: Dystrophia myotonica 2
0.010 GeneticVariation BEFREE Our results indicate that in a case-control study, the homozygosity for D2 Thr92Ala polymorphism is associated with increased risk for DM2. 20566590 2010
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
Severe Sepsis
CUI: C1719672
Disease: Severe Sepsis
0.010 GeneticVariation BEFREE The G (Ala) allele of the Thr92Ala coding single-nucleotide polymorphism (rs225014) was protective in severe sepsis and severe sepsis-associated ALI after adjustments for age, sex, and genetic ancestry in a logistic regression model in European Americans. 21685153 2011
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
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 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
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 Homozygosity for the Dio2 Thr92Ala polymorphism is associated with higher HbA1C levels in T2DM patients. 27777960 2016