TXNRD2, thioredoxin reductase 2, 10587

N. diseases: 134; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.340 Biomarker disease BEFREE We noted statistically significant (P < 0.05) interactions between selenium assignment, SNPs in CAT, SOD2, PRDX6, SOD3, and TXNRD2, and high-grade prostate cancer risk. 27197287 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.340 GeneticVariation disease BEFREE Less common alleles of rs11913319 in TXNRD2 and rs125701 in OGG1 were associated with an increased risk of high-grade prostate cancer. 25284284 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.340 Biomarker disease BEFREE However, thioredoxin reductase 2 protein was clearly shown to be a biomarker of prostate cancer-associated reactive stroma whose presence distinguishes the stroma associated with benign prostatic hyperplasia from that associated with prostate cancer. 23762225 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.340 GeneticVariation disease BEFREE Among men carrying the variant allele for thioredoxin reductase 2 (TXNRD2) rs4485648, microsomal epoxide hydrolase 1 (EPHX1) rs17309872, or myeloperoxidase (MPO) rs11079344, an increased prostate cancer risk was observed with high, compared with no, petroleum oil/petroleum distillate (OR=1.9, 95% CI: 1.1-3.2, P interaction=0.01; OR=2.1, 95% CI: 1.1-4.0, P interaction=0.01), or terbufos (OR=3.0, 95% CI: 1.5-6.0, P interaction=2.0×10(-3)) use, respectively. 21716162 2011
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.330 GeneticVariation disease BEFREE Apart from confirming evidence of association at TXNRD2 (rs16984299; OR<sub>[T]</sub> 1.20; P = 0.003), we found that a genetic risk score combining the effects of the 15 previously reported POAG loci was significantly associated with POAG in our samples (OR 1.56; 95% CI 1.26-1.93; P = 4.79 × 10<sup>-5</sup>). 30317457 2018
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.330 GeneticVariation disease BEFREE Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. 26752265 2016
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.330 GeneticVariation disease BEFREE Recent GWAS completed for three types of common adult-onset glaucoma have identified novel loci for POAG (primary-open-angle glaucoma) (ABCA1, AFAP1, GMDS, PMM2, TGFBR3, FNDC3B, ARHGEF12, GAS7, FOXC1, ATXN2, TXNRD2); PACG (primary angle-closure glaucoma (EPDR1, CHAT, GLIS3, FERMT2, DPM2-FAM102); and exfoliation syndrome (XFS) glaucoma (CACNA1A). 28505344 2017
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency
0.320 GeneticVariation disease BEFREE Mutations in TXNRD2 produced familial glucocorticoid deficiency (FGD) and dilated cardiomyopathy (DCM). 29709707 2018
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency
0.320 GeneticVariation disease BEFREE Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). 24601690 2014
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
0.310 Biomarker phenotype BEFREE Six SNPs from the first of three COMT/TXNRD2 haploblocks interacted with depressive symptoms on TMD pain (smallest p-value: 2.7 × 10(-10) ). 22337325 2012
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.120 GeneticVariation group BEFREE Mutations in TXNRD2 produced familial glucocorticoid deficiency (FGD) and dilated cardiomyopathy (DCM). 29709707 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.120 GeneticVariation group BEFREE Cardiac-specific deletion of Txnrd2 in mice results in dilated cardiomyopathy (DCM). 21247928 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.110 Biomarker disease BEFREE Recent GWAS completed for three types of common adult-onset glaucoma have identified novel loci for POAG (primary-open-angle glaucoma) (ABCA1, AFAP1, GMDS, PMM2, TGFBR3, FNDC3B, ARHGEF12, GAS7, FOXC1, ATXN2, TXNRD2); PACG (primary angle-closure glaucoma (EPDR1, CHAT, GLIS3, FERMT2, DPM2-FAM102); and exfoliation syndrome (XFS) glaucoma (CACNA1A). 28505344 2017
Generalized Thyroid Hormone Resistance
0.100 GeneticVariation disease BEFREE Resistance to thyroid hormone (RTH), a syndrome characterized by variable tissue hyposensitivity to thyroid hormone, is linked to mutations in the thyroid hormone receptor-beta (TR beta) gene. 7593433 1995
Generalized Thyroid Hormone Resistance
0.100 GeneticVariation disease BEFREE Unlike the TR beta gene, a mutation in the TR alpha1 gene has never been found in patients with resistance to thyroid hormone (RTH). 9685218 1998
Generalized Thyroid Hormone Resistance
0.100 Biomarker disease BEFREE In particular, the application of 3,3',5-triiodothyroacetic acid (Triac) in RTH due to defective TRβ and the role of 3,5-diiodothyropropionic acid (DITPA), 3,3',5,5'-tetraiodothyroacetic acid (Tetrac) and Triac in MCT8 deficiency will be highlighted. 28235578 2017
Generalized Thyroid Hormone Resistance
0.100 GeneticVariation disease BEFREE To date, all individuals expressing the RTH phenotype have been found to harbor mutations in the thyroid hormone receptor beta (TR beta) gene that impair T3-mediated function. 8954015 1996
Generalized Thyroid Hormone Resistance
0.100 Biomarker disease BEFREE The role of the TRβ was studied in cells from patients with resistance to thyroid hormone (RTH). 20827662 2011
Generalized Thyroid Hormone Resistance
0.100 GeneticVariation disease BEFREE Mutations in the ligand-binding domain of the thyroid hormone receptor beta (TR beta) gene cause the syndrome of resistance to thyroid hormone (RTH). 8529109 1995
Generalized Thyroid Hormone Resistance
0.100 Biomarker disease BEFREE Since similar mutations have been identified in tri-iodothyronine (T3) receptor (TR) beta gene in GRTH and PRTH, and since considerable overlap has been seen in the clinical manifestations in patients with GRTH and PRTH, two subtypes of RTH are now considered to be a continuous spectrum with the same genetic defect. 8958790 1996
Generalized Thyroid Hormone Resistance
0.100 GeneticVariation disease BEFREE TRβ gene mutation is not always correlated with the RTH phenotype. 25502991 2015
Generalized Thyroid Hormone Resistance
0.100 GeneticVariation disease BEFREE Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome characterized by hyposensitivity to thyroid hormone caused by mutations in the thyroid hormone receptor-beta (TR beta) gene. 8838149 1996
Generalized Thyroid Hormone Resistance
0.100 GeneticVariation disease BEFREE Patients diagnosed as RTH with TRβ mutations were enrolled in a single institute between 2004 and 2014. 26041374 2015
Generalized Thyroid Hormone Resistance
0.100 GeneticVariation disease BEFREE The aim of the study was to describe the clinical, biochemical, and genetic features of a sample of Mediterranean patients with RTH (resistance to thyroid hormone) due to mutations in TRβ (thyroid hormone receptor beta) referred to our institution during the last 15 years. 24722129 2014
Generalized Thyroid Hormone Resistance
0.100 Biomarker disease BEFREE We have identified 20 different mutations in the thyroid hormone beta-receptor (TR beta) gene in RTH and assayed mutant receptor properties using the TSH alpha subunit gene promoter or promoters containing three different types of positive thyroid response element (TRE). 7838159 1994