Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.

doi:10.1016/j.ajhg.2008.04.019

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Article

Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.

American journal of human genetics - 1 Jun 2008

Arnaud-Lopez Lisette, Usala Gianluca, Ceresini Graziano, Mitchell Braxton D, Pilia Maria Grazia, Piras Maria Grazia, Sestu Natascia, Maschio Andrea, Busonero Fabio, Albai Giuseppe, Dei Mariano, Lai Sandra, Mulas Antonella, Crisponi Laura, Tanaka Toshiko, Bandinelli Stefania, Guralnik Jack M, Loi Angela, Balaci Lenuta, Sole Gabriella, Prinzis Alessia, Mariotti Stefano, Shuldiner Alan R, Cao Antonio, Schlessinger David, Uda Manuela, Abecasis Gonçalo R, Nagaraja Ramaiah, Sanna Serena, Naitza Silvia

Abstract excerpt

Thyroid-stimulating hormone (TSH) controls thyroid growth and hormone secretion through binding to its G protein-coupled receptor (TSHR) and production of cyclic AMP (cAMP). Serum TSH is a sensitive indicator of thyroid function, and overt abnormalities in thyroid function lead to common endocrine disorders affecting approximately 10% of individuals over a life span. By genotyping 362,129 SNPs in 4,300...

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Identifiers

PMID: 18514160
DOI: 10.1016/j.ajhg.2008.04.019
PMCID: PMC2427267

Genes

TSHR
GNAQ
THRB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.PMID 18514160Read ↗

Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.Semantic proximity Read ↗

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.Semantic proximity Read ↗

Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy.Semantic proximity Read ↗

Genetic association study of phosphodiesterase 8B gene with subclinical hypothyroidism in pregnant women.Semantic proximity Read ↗

A large-scale association analysis of 68 thyroid hormone pathway genes with serum TSH and FT4 levels.Semantic proximity Read ↗

Transcriptome-wide association study identifies multiple genes and pathways associated with thyroid function.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network.Semantic proximity Read ↗

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulationSemantic proximity Read ↗

Frequency and effect on serum TSH of phosphodiesterase 8B (PDE8B) gene polymorphisms in patients with sporadic nonautoimmune subclinical hypothyroidism.Semantic proximity Read ↗

Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels.Semantic proximity Read ↗

A locus on chromosome 1p36 is associated with thyrotropin and thyroid function as identified by genome-wide association study.Semantic proximity Read ↗

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