{{Rsnum
|rsid=4704397
|Gene=PDE8B
|Chromosome=5
|position=77222617
|Orientation=plus
|GMAF=0.3485
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PDE8B
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 16.1 | 50.9 | 33.0
| HCB | 72.1 | 26.5 | 1.5
| JPT | 75.0 | 21.4 | 3.6
| YRI | 77.9 | 20.0 | 2.1
| ASW | 59.6 | 40.4 | 0.0
| CHB | 72.1 | 26.5 | 1.5
| CHD | 71.6 | 27.5 | 0.9
| GIH | 22.0 | 56.0 | 22.0
| LWK | 81.8 | 17.3 | 0.9
| MEX | 32.8 | 48.3 | 19.0
| MKK | 71.8 | 27.5 | 0.7
| TSI | 11.8 | 48.0 | 40.2
| HapMapRevision=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|18514160|OA=1
}}

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}}

{{omim
|desc=THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1; TSHQTL1
|id=612306
|rsnum=4704397
}}

{{omim
|desc=PHOSPHODIESTERASE 8B; PDE8B
|id=603390
|rsnum=4704397
}}

{{PharmGKB
|RSID=rs4704397
|Name_s=
|Gene_s=PDE8B
|Feature=
|Evidence=PubMed ID:18514160
|Annotation=In a GWAS, this SNP showed strong association with levels of circulating Thyroid-stimulating hormone (TSH). The initial GWAS was done on 4300 Sardinians and the association with a second SNP(rs6885099), which is in strong linkage disequilibrium with rs4704397, was replicated in additional Sardinians plus Tuscan and Old Order Amish cohorts (4158 individuals).
|Drugs=
|Drug Classes=
|Diseases=Thyroid Diseases
|Curation Level=Curated
|PharmGKB Accession ID=PA161748311
}}

{{PMID Auto
|PMID=22084153
|Title=Impact of phosphodiesterase 8B gene rs4704397 variation on thyroid homeostasis in childhood obesity.
}}

{{PMID Auto GWAS
|PMID=22493691
|Trait=None
|Title=Novel associations for hypothyroidism include known autoimmune risk loci.
|RiskAllele=A
|Pval=0.000002
|OR=1.1740
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=19197348
|Title=Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
|OA=1
}}

{{PMID Auto
|PMID=20628519
|Title=Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies.
|OA=1
}}

{{PMID Auto
|PMID=21317282
|Title=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.
|OA=1
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4704397
|overall_frequency_n=90
|overall_frequency_d=128
|overall_frequency=0.703125
|n_genomes=48
|n_genomes_annotated=0
|n_haplomes=79
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23941514
|Title=The phosphodiesterase 8B gene rs4704397 is associated with thyroid function, risk of myocardial infarction and body height. The Tromsø Study
}}

{{PMID Auto
|PMID=23344678
|Title=Genetic associations with neonatal thyroid-stimulating hormone levels.
|OA=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}