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rs12095080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 no association with increased thyroid hormone metabolism
(A;G) 1 may have normal to good thyroid hormone metabolism
(G;G) 1 likely good thyroid hormone metabolism
ReferenceGRCh38 38.1/141
Chromosome1
Position53911057
GeneDIO1
is asnp
is mentioned by
dbSNPrs12095080
dbSNP (old)rs12095080
ClinGenrs12095080
ebirs12095080
HLIrs12095080
Exacrs12095080
Gnomadrs12095080
Varsomers12095080
Maprs12095080
PheGenIrs12095080
Biobankrs12095080
1000 genomesrs12095080
hgdprs12095080
ensemblrs12095080
gopubmedrs12095080
geneviewrs12095080
scholarrs12095080
googlers12095080
pharmgkbrs12095080
gwascentralrs12095080
openSNPrs12095080
23andMers12095080
23andMe allrs12095080
SNP Nexus

SNPshotrs12095080
SNPdbers12095080
MSV3drs12095080
GWAS Ctlgrs12095080
GMAF0.09458
Max Magnitude1
? (A;A) (A;G) (G;G) 28
[PMID 12788902] Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects. This 2003 study found that the DIO1 gene's D1b-A/G polymorphism (rs12095080) allele G correlated with lower rT3/T4 and higher T3/rT3 ratios, suggesting increased D1 (Deiodinase type 1) expression and/or activity of this variant. Researchers explained that liver D1 plays a key role not only in the production of plasma T3 from T4 but also in the breakdown of the metabolite rT3 (reverse T3).


[PMID 18815314OA-icon.png] Cellular and molecular basis of deiodinase-regulated thyroid hormone signaling.. This 2008 review identified the SNPs of D1a-C/T (rs11206244), and D1b-A/G (rs12095080) and cited the results of the 2003 study [PMID 12788902] on these polymorphisms.


[PMID 21715540] The Type 2 Deiodinase ORFa-Gly3Asp Polymorphism (rs12885300) Influences the Set Point of the Hypothalamus-Pituitary-Thyroid Axis in Patients Treated for Differentiated Thyroid Carcinoma. This study analyzed DIO1-rs12095080 but found more significant effect with SNP DIO2-rs12885300. However, their data depended on TSH and T4 levels alone, since T3 and rT3 were measured at only one time point during the study.