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rs4704397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0.26 muIU/ml higher TSH
(A;G) 0.13 muIU/ml higher TSH
(C;C) 0
(G;G) normal
ReferenceGRCh38 38.1/141
Chromosome5
Position77222617
GenePDE8B
is asnp
is mentioned by
dbSNPrs4704397
ebirs4704397
HLIrs4704397
Exacrs4704397
Varsomers4704397
Maprs4704397
PheGenIrs4704397
hapmaprs4704397
1000 genomesrs4704397
hgdprs4704397
ensemblrs4704397
gopubmedrs4704397
geneviewrs4704397
scholarrs4704397
googlers4704397
pharmgkbrs4704397
gwascentralrs4704397
openSNPrs4704397
23andMers4704397
23andMe allrs4704397
SNP Nexus

SNPshotrs4704397
SNPdbers4704397
MSV3drs4704397
GWAS Ctlgrs4704397
GMAF0.3485
Max Magnitude0
? (A;A) (A;G) (G;G) 28

A study of over 9,000+ individuals indicates that each copy of rs4704397(A) is associated with an increase of 0.13 muIU/ml in serum TSH (thyroid-stimulating hormone).[PMID 18514160OA-icon.png]

A separate study of 970 pregnant women at 28 weeks of gestation found that serum TSH was highest for rs4704397(A;A) individuals (median, 2.16, 1.84, and 1.73 mIU/liter for AA, AG, and GG genotypes, respectively; p=0.0004), and more women with the (A;A) genotype had TSH concentrations above 4.21 mIU/liter, the upper limit of the reference range, compared with the (A;G) and (G;G) genotypes (9.6 vs. 3.5%, respectively; p=0.004). However, maternal PDE8B genotype was not associated with offspring birthweight or gestational age at delivery.[PMID 19820008]

OMIM612306
DescTHYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1; TSHQTL1
Variant
Relatedalso
OMIM603390
DescPHOSPHODIESTERASE 8B; PDE8B
Variant
Relatedalso



[PMID 22084153] Impact of phosphodiesterase 8B gene rs4704397 variation on thyroid homeostasis in childhood obesity.

GWAS snp
PMID [PMID 22493691OA-icon.png]
Trait
Title Novel associations for hypothyroidism include known autoimmune risk loci.
Risk Allele A
P-val 0.000002
Odds Ratio 1.1740 None


[PMID 19197348OA-icon.png] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.


[PMID 20628519OA-icon.png] Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies.


[PMID 21317282OA-icon.png] A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement.


GET Evidence
rs4704397
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.703125
summary



[PMID 23941514] The phosphodiesterase 8B gene rs4704397 is associated with thyroid function, risk of myocardial infarction and body height. The Tromsø Study


[PMID 23344678OA-icon.png] Genetic associations with neonatal thyroid-stimulating hormone levels.