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
]
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 | 612306 |
| Desc | THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1; TSHQTL1 |
| Variant | |
| Related | also |
[PMID 22084153] Impact of phosphodiesterase 8B gene rs4704397 variation on thyroid homeostasis in childhood obesity.
| GWAS snp
|
| PMID
|
[PMID 22493691]
|
| Trait
|
|
| Title
|
Novel associations for hypothyroidism include known autoimmune risk loci.
|
| Risk Allele
|
A
|
| P-val
|
0.000002
|
| Odds Ratio
|
1.1740 None
|
[PMID 19197348] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
[PMID 20628519] Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies.
[PMID 21317282] 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.
[PMID 23941514] The phosphodiesterase 8B gene rs4704397 is associated with thyroid function, risk of myocardial infarction and body height. The Tromsø Study
[PMID 23344678] Genetic associations with neonatal thyroid-stimulating hormone levels.
]
