Cited by 139Genetic Associations and EpidemiologyThyroid Disorders and TreatmentsPhosphodiesterase function and regulation

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Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function

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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·2008·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2008.04.019PMC PMC2427267

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Abstract

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 Sardinians, we identified a strong association (p = 1.3 x 10(-11)) between alleles of rs4704397 and circulating TSH levels; each additional copy of the minor A allele was associated with an increase of 0.13 muIU/ml in TSH. The single-nucleotide polymorphism (SNP) is located in intron 1 of PDE8B, encoding a high-affinity cAMP-specific phosphodiesterase. The association was replicated in 4,158 individuals, including additional Sardinians and two genetically distant cohorts from Tuscany and the Old Order Amish (overall p value = 1.9 x 10(-20)). In addition to association of TSH levels with SNPs in PDE8B, our genome scan provided evidence for association with PDE10A and several biologically interesting candidates in a focused analysis of 24 genes. In particular, we found evidence for association of TSH levels with SNPs in the THRB (rs1505287, p = 7.3 x 10(-5)), GNAQ (rs10512065, p = 2.0 x 10(-4)), TG (rs2252696, p = 2.2 x 10(-3)), POU1F1 (rs1976324, p = 3.9 x 10(-3)), PDE4D (rs27178, p = 8.3 x 10(-3)), and TSHR (rs4903957, p = 8.6 x 10(-3)) loci. Overall, the results suggest a prim…

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Authors: Arnaud-Lopez, L., Usala, G., Ceresini, G., Mitchell, B. D., Pilia, M. G., Piras, M. G., Sestu, N., Maschio, A., Busonero, F., Albai, G., Dei, M., Lai, S., Mulas, A., Crisponi, L., Tanaka, T., Bandinelli, S., Guralnik, J. M., Loi, A., Balaci, L., Sole, G., Prinzis, A., Mariotti, S., Shuldiner, A. R., Cao, A., Schlessinger, D., Uda, M., Abecasis, G. R., Nagaraja, R., Sanna, S., & Naitza, S.
Affiliations: National Institute on Aging (US)
National Research Council (IT)
University of Parma (IT)
University of Maryland, Baltimore (US)
Azienda Sanitaria di Firenze (IT)
National Institutes of Health (US)
University of Cagliari (IT)
University of Michigan (US)
Corresponding author: Naitza, Silvia
ORCID: Ceresini, Graziano
Mitchell, Braxton D.
Piras, Maria Grazia
Maschio, Andrea
Busonero, Fabio
Dei, Mariano
Lai, Sandra
Mulas, Antonella
Crisponi, Laura
Bandinelli, Stefania
Guralnik, Jack M.
Sole, Gabriella
Mariotti, Stefano
Shuldiner, Alan R.
Schlessinger, David
Uda, Manuela
Abecasis, Gonçalo R.
Nagaraja, Ramaiah
Sanna, Serena
Naitza, Silvia
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2008-06
Volume: 82
Issue: 6
Pages: 1270-1280
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2008.04.019
PMC: PMC2427267
OpenAlex: W2170941644
Cited by: 139
References: 53
Citations by year: 2026: 3 · 2025: 5 · 2024: 6 · 2023: 5 · 2022: 3 · 2021: 3 · 2020: 5 · 2019: 1 · 2018: 6 · 2017: 8 · 2016: 3 · 2015: 11 · 2014: 9 · 2013: 14 · 2012: 21
FWCI: 6.86
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1874 d)
Locations: The American Journal of Human Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
UNICA IRIS Institutional Research Information System (University of Cagliari) (submittedVersion)
Funders: National Institutes of Health (263-MA-410953, NO1-AG-1–2109)
National Institute on Aging
National Center for Research Resources
Johns Hopkins University (M01 RR 000052)
Geriatric Research Education and Clinical Center
Ministero della Salute (ICS 110.1/RS97.71)
University of Michigan (HG002651, HL084729)
Fondazione Banco di Sardegna
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Phosphodiesterase function and regulation
Keywords: PDE8B, thyroid-stimulating hormone, serum TSH levels, thyroid function, single nucleotide polymorphisms, intron 1, cyclic AMP, PDE10A, TSH receptor, thyroid hormone receptor beta, GNAQ, TG, Pit-1, PDE4D, thyroid dysfunction
MeSH terms: Cyclic AMP, Adolescent, Adult, Aged, Aged, 80 and over, Chromosome Mapping, Feedback, Female, Humans, Male, Middle Aged, Pituitary Gland, Thyroid Diseases, Thyroid Gland, Thyrotropin, Thyroxine, Triiodothyronine, Genetic Variation, 3',5'-Cyclic-AMP Phosphodiesterases, Linkage Disequilibrium, Polymorphism, Single Nucleotide

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Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function

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