|
rs7850258
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Four single-nucleotide polymorphisms (SNPs) in linkage disequilibrium at 9q22 near FOXE1 were associated with hypothyroidism at genome-wide significance, the strongest being rs7850258 (odds ratio [OR] 0.74, p = 3.96 × 10(-9)).
|
21981779 |
2011 |
|
rs7850258
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Quantitative reporter assays in oral epithelial and thyroid cell lines show that the rs7850258 allele (G) associated with CLP and hypothyroidism has significantly greater enhancer activity than the allele associated with thyroid cancer (A).
|
25652407 |
2015 |
|
rs10759944
|
|
|
0.710 |
GeneticVariation |
BEFREE |
FOXE1 variants, associated with hypothyroidism, were not genome-wide significant (rs10759944: p = 1.08×10-6, β = -0.05).
|
25436638 |
2014 |
|
rs225014
|
|
|
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 |
|
rs225014
|
|
|
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 |
|
rs225014
|
|
|
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 |
|
rs225014
|
|
|
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 |
|
rs225014
|
|
|
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 |
|
rs113488022
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Screening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis.
|
18426810 |
2008 |
|
rs113488022
|
|
|
0.020 |
GeneticVariation |
BEFREE |
One month following BRAF(V600E) expression, mice displayed increased thyroid size, widespread alterations in thyroid architecture, and dramatic hypothyroidism.
|
21512141 |
2011 |
|
rs121913377
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Screening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis.
|
18426810 |
2008 |
|
rs121913377
|
|
|
0.020 |
GeneticVariation |
BEFREE |
One month following BRAF(V600E) expression, mice displayed increased thyroid size, widespread alterations in thyroid architecture, and dramatic hypothyroidism.
|
21512141 |
2011 |
|
rs370991693
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two novel mutations have been detected, and we show that TG mutation p.A2215D promotes the retention of TG within the endoplasmic reticulum and reduces TG synthesis and secretion, causing mild hypothyroidism.
|
19509106 |
2009 |
|
rs370991693
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The brother with the IVS30 + 1G>T/A2215D mutation and the two siblings with the IVS30+1G>T mutation had fetal or neonatal goiter and all had hypothyroidism.
|
18631008 |
2008 |
|
rs111033199
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a 46-year-old female with sensorineural deafness and hypothyroidism, who presented with severe hypokalaemic metabolic alkalosis during inter-current illnesses on two occasions, and who was found to be homozygous for a loss-of-function mutation (V138F) in SLC26A4.
|
21551164 |
2011 |
|
rs1126797
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two of the six SNPs revealed a significant association with hypothyroidism; Thr725Pro (rs732609) and Asp666Asp (rs1126797).
|
24420335 |
2014 |
|
rs1143627
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To evaluate the hypothesis that the functional -31C/T polymorphism (rs1143627) in the gene encoding IL-1beta is associated with the intractability and the severity of autoimmune thyroid diseases, we genotyped this polymorphism in 64 patients with intractable Graves' disease (GD), 28 GD patients in remission, 49 patients with Hashimoto's disease (HD) who developed hypothyroidism (severe HD), 28 untreated euthyroid HD patients (mild HD) and 59 healthy volunteers.
|
19793334 |
2009 |
|
rs11611206
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Allele G in rs11611206 increased people with HT towards the predisposition of hypothyroidism.
|
28839453 |
2017 |
|
rs121908862
|
|
|
0.010 |
GeneticVariation |
BEFREE |
After the finding of partial loss-of-function mutations leading to hyperthyrotropinemia (Sunthornthepvarakul et al., 1995) it was speculated that a more severe phenotype with hypothyroidism and hypoplasia of the gland (thyroid dysgenesis) would be the result, if complete loss-of-function mutations like the isoleucine167 to asparagine mutation would occur in a homozygote or compound heterozygote state.
|
8981017 |
1996 |
|
rs121908866
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The W546X allele was detected in approximately 1 in 180 individuals and may be a major contributor to hypothyroidism in the Welsh population.
|
12629076 |
2003 |
|
rs1237473071
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that P556L TSHR has a dominant negative effect on TSHR(W) by impairing polymer to monomer dissociation, which decreases TSH responsiveness and induces hypothyroidism in C.RF-Tshr(hyt/wild) mice.
|
22916127 |
2012 |
|
rs12492609
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, there was an obvious difference in the genotype distributions of rs12492609 and rs7629750 between HT patients with hypothyroidism and those without hypothyroidism (<i>p</i> = 0.034 and <i>p</i> = 0.023, respectively).
|
31553233 |
2019 |
|
rs13306186
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotyping results revealed that two mutations, c.G7192T (p.A2398S) in the FASN gene and c.C1883G (p.T628R) in the APOBR gene, were fully co‑segregated with established hypothyroidism phenotypes in the family.
|
30272292 |
2018 |
|
rs141185224
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a new RET point mutation [R694Q (CGG-->CAG)], serendipitously found in a 23-yr-old woman with hypothyroidism due to atrophic Hashimoto's thyroiditis and primary ovarian failure, without altered calcitonin secretion.
|
15472167 |
2004 |
|
rs148383040
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotyping results revealed that two mutations, c.G7192T (p.A2398S) in the FASN gene and c.C1883G (p.T628R) in the APOBR gene, were fully co‑segregated with established hypothyroidism phenotypes in the family.
|
30272292 |
2018 |