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Cited by 233

The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.

A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function

Open access
Porcu, Eleonora, Medici, Marco, Pistis, Giorgio, Volpato, Claudia B., Wilson, Scott G., Cappola, Anne R., Bos, Steffan D., Deelen, Joris, den Heijer, Martin, Freathy, Rachel M., Lahti, Jari, Liu, Chunyu, Lopez, Lorna M., Nolte, Ilja M., O'Connell, Jeffrey R., Tanaka, Toshiko, Trompet, Stella, Arnold, Alice, Bandinelli, Stefania, Beekman, Marian, Böhringer, Stefan, Brown, Suzanne J., Buckley, Brendan M., Camaschella, Clara, de Craen, Anton J. M., Davies, Gail, de Visser, Marieke C. H., Ford, Ian, Forsen, Tom, Frayling, Timothy M., Fugazzola, Laura, Gögele, Martin, Hattersley, Andrew T., Hermus, Ad R., Hofman, Albert, Houwing-Duistermaat, Jeanine J., Jensen, Richard A., Kajantie, Eero, Kloppenburg, Margreet, Lim, Ee M., Masciullo, Corrado, Mariotti, Stefano, Minelli, Cosetta, Mitchell, Braxton D., Nagaraja, Ramaiah, Netea-Maier, Romana T., Palotie, Aarno, Persani, Luca, Piras, Maria G., Psaty, Bruce M., Räikkönen, Katri, Richards, J. Brent, Rivadeneira, Fernando, Sala, Cinzia, Sabra, Mona M., Sattar, Naveed, Shields, Beverley M., Soranzo, Nicole, Starr, John M., Stott, David J., Sweep, Fred C. G. J., Usala, Gianluca, van der Klauw, Melanie M., van Heemst, Diana, van Mullem, Alies, H.Vermeulen, Sita, Visser, W. Edward, Walsh, John P., Westendorp, Rudi G. J., Widen, Elisabeth, Zhai, Guangju, Cucca, Francesco, Deary, Ian J., Eriksson, Johan G., Ferrucci, Luigi, Fox, Caroline S., Jukema, J. Wouter, Kiemeney, Lambertus A., Pramstaller, Peter P., Schlessinger, David, Shuldiner, Alan R., Slagboom, Eline P., Uitterlinden, André G., Vaidya, Bijay, Visser, Theo J., Wolffenbuttel, Bruce H. R., Meulenbelt, Ingrid, Rotter, Jerome I., Spector, Tim D., Hicks, Andrew A., Toniolo, Daniela, Sanna, Serena, Peeters, Robin P., Naitza, Silvia·2013·PLoS Genetics
DOI 10.1371/journal.pgen.1003266
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Abstract

Thyroid hormone is essential for normal metabolism and development, and overt abnormalities in thyroid function lead to common endocrine disorders affecting approximately 10% of individuals over their life span. In addition, even mild alterations in thyroid function are associated with weight changes, atrial fibrillation, osteoporosis, and psychiatric disorders. To identify novel variants underlying thyroid function, we performed a large meta-analysis of genome-wide association studies for serum levels of the highly heritable thyroid function markers TSH and FT4, in up to 26,420 and 17,520 euthyroid subjects, respectively. Here we report 26 independent associations, including several novel loci for TSH (PDE10A, VEGFA, IGFBP5, NFIA, SOX9, PRDM11, FGF7, INSR, ABO, MIR1179, NRG1, MBIP, ITPK1, SASH1, GLIS3) and FT4 (LHX3, FOXE1, AADAT, NETO1/FBXO15, LPCAT2/CAPNS2). Notably, only limited overlap was detected between TSH and FT4 associated signals, in spite of the feedback regulation of their circulating levels by the hypothalamic-pituitary-thyroid axis. Five of the reported loci (PDE8B, PDE10A, MAF/LOC440389, NETO1/FBXO15, and LPCAT2/CAPNS2) show strong gender-specific differences, which offer clues for the known sexual dimorphism in thyroid function and related pathologies. Importantly, the TSH-associated loci contribute not only to variation within the normal range, but also to TSH values outside the reference range, suggesting that they may be involved in thyroid dysfunction. Overall, our findings explain, respectively, 5.64% and 2.30% of total TSH and FT4 trait variance, and they improve the current knowledge of the regulation of hypothalamic-pituitary-thyroid axis function and the consequences of genetic variation for hypo- or hyperthyroidism.

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Authors
Porcu, E., Medici, M., Pistis, G., Volpato, C. B., Wilson, S. G., Cappola, A. R., Bos, S. D., Deelen, J., den Heijer, M., Freathy, R. M., Lahti, J., Liu, C., Lopez, L. M., Nolte, I. M., O'Connell, J. R., Tanaka, T., Trompet, S., Arnold, A., Bandinelli, S., Beekman, M., Böhringer, S., Brown, S. J., Buckley, B. M., Camaschella, C., de Craen, A. J. M., Davies, G., de Visser, M. C. H., Ford, I., Forsen, T., Frayling, T. M., Fugazzola, L., Gögele, M., Hattersley, A. T., Hermus, A. R., Hofman, A., Houwing-Duistermaat, J. J., Jensen, R. A., Kajantie, E., Kloppenburg, M., Lim, E. M., Masciullo, C., Mariotti, S., Minelli, C., Mitchell, B. D., Nagaraja, R., Netea-Maier, R. T., Palotie, A., Persani, L., Piras, M. G., Psaty, B. M., Räikkönen, K., Richards, J. B., Rivadeneira, F., Sala, C., Sabra, M. M., Sattar, N., Shields, B. M., Soranzo, N., Starr, J. M., Stott, D. J., Sweep, F. C. G. J., Usala, G., van der Klauw, M. M., van Heemst, D., van Mullem, A., H.Vermeulen, S., Visser, W. E., Walsh, J. P., Westendorp, R. G. J., Widen, E., Zhai, G., Cucca, F., Deary, I. J., Eriksson, J. G., Ferrucci, L., Fox, C. S., Jukema, J. W., Kiemeney, L. A., Pramstaller, P. P., Schlessinger, D., Shuldiner, A. R., Slagboom, E. P., Uitterlinden, A. G., Vaidya, B., Visser, T. J., Wolffenbuttel, B. H. R., Meulenbelt, I., Rotter, J. I., Spector, T. D., Hicks, A. A., Toniolo, D., Sanna, S., Peeters, R. P., & Naitza, S.
Venue
PLoS Genetics
Publisher
Public Library of Science (PLoS)
Published
2013-02-07
Volume
9
Issue
2
Pages
e1003266
ISSN
  • 1553-7390 (ISSN-L)
  • 1553-7404
DOI
10.1371/journal.pgen.1003266
OpenAlex
W2097650598
Cited by
233
References
15
FWCI
3.35
Type
journal article
Language
en
Open access
gold

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Porcu, E., Medici, M., Pistis, G., Volpato, C. B., Wilson, S. G., Cappola, A. R., Bos, S. D., Deelen, J., den Heijer, M., Freathy, R. M., Lahti, J., Liu, C., Lopez, L. M., Nolte, I. M., O'Connell, J. R., Tanaka, T., Trompet, S., Arnold, A., Bandinelli, S., . . . Naitza, S. (2013). A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1003266

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.