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58. The macrophage migration inhibitory factor pathway in human B cells is tightly controlled and dysregulated in multiple sclerosis

Author

Rijvers, Liza, primary, Melief, Marie-José, additional, van der Vuurst de Vries, Roos M., additional, Stéphant, Maeva, additional, van Langelaar, Jamie, additional, Wierenga-Wolf, Annet F., additional, Hogervorst, Jeanet M., additional, Geurts-Moespot, Anneke J., additional, Sweep, Fred C. G. J., additional, Hintzen, Rogier Q., additional, and van Luijn, Marvin M., additional

Published
2018
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59. Association between High Levels of Blood Macrophage Migration Inhibitory Factor, Inappropriate Adrenal Response, and Early Death in Patients with Severe Sepsis

Author

Emonts, Marieke, Sweep, Fred C. G. J., Grebenchtchikov, Nicolai, Geurts-Moespot, Anneke, Knaup, Marlies, Chanson, Anne Laure, Erard, Veronique, Renner, Pascal, Hermans, Peter W. M., Hazelzet, Jan A., Calandra, Thierry, Emonts, Marieke, Sweep, Fred C. G. J., Grebenchtchikov, Nicolai, Geurts-Moespot, Anneke, Knaup, Marlies, Chanson, Anne Laure, Erard, Veronique, Renner, Pascal, Hermans, Peter W. M., Hazelzet, Jan A., and Calandra, Thierry

Abstract

Background.Identification of new therapeutic targets remains an imperative goal to improve the morbidity and mortality associated with severe sepsis and septic shock. Macrophage migration inhibitory factor (MIF), a proinflammatory cytokine and counterregulator of glucocorticoids, has recently emerged as a critical mediator of innate immunity and experimental sepsis, and it is an attractive new target for the treatment of sepsis. Methods.Circulating concentrations of MIF were measured in 2 clinical trial cohorts of 145 pediatric and adult patients who had severe sepsis or septic shock caused predominantly by infection with Neisseria meningitidis or other gram-negative bacteria, to study the kinetics of MIF during sepsis, to analyze the interplay between MIF and other mediators of sepsis or stress hormones (adrenocorticotropic hormone and cortisol), and to determine whether MIF is associated with patient outcome. Results.Circulating concentrations of MIF were markedly elevated in 96% of children and adults who had severe sepsis or septic shock, and they remained elevated for several days. MIF levels were correlated with sepsis severity scores, presence of shock, disseminated intravascular coagulation, urine output, blood pH, and lactate and cytokine levels. High levels of MIF were associated with a rapidly fatal outcome. Moreover, in meningococcal sepsis, concentrations of MIF were positively correlated with adrenocorticotropic hormone levels and negatively correlated with cortisol levels and the cortisol : adrenocorticotropic hormone ratio, suggesting an inappropriate adrenal response to sepsis. Conclusions.MIF is markedly and persistently up-regulated in children and adults with gram-negative sepsis and is associated with parameters of disease severity, with dysregulated pituitary-adrenal function in meningococcal sepsis, and with early death

Published
2017

60. Plasma Levels of Macrophage Migration Inhibitory Factor and d-Dopachrome Tautomerase Show a Highly Specific Profile in Early Life.

Author

Roger, Thierry, Schlapbach, Luregn LJ, Schneider, Anina, Weier, Manuela, Wellmann, Sven, Marquis, Patrick, Vermijlen, David, Sweep, Fred C G J FC, Leng, Lin, Bucala, Richard, Calandra, Thierry, Giannoni, Eric, Roger, Thierry, Schlapbach, Luregn LJ, Schneider, Anina, Weier, Manuela, Wellmann, Sven, Marquis, Patrick, Vermijlen, David, Sweep, Fred C G J FC, Leng, Lin, Bucala, Richard, Calandra, Thierry, and Giannoni, Eric

Abstract

Macrophage migration inhibitory factor (MIF) is a pleiotropic, constitutively expressed, pro-inflammatory cytokine and an important regulator of immune responses. d-dopachrome tautomerase (DDT), a newly described member of the MIF protein superfamily, shares sequence homology and biological activities with MIF. We recently reported that high expression levels of MIF sustain innate immune responses in newborns. Here, we elected to further characterize age-dependent MIF expression and to define whether DDT shares a similar expression profile with MIF. Therefore, we delineated the circulating concentrations of MIF and DDT throughout life using a large cohort of 307 subjects including fetuses, newborns, infants, children, and adults. Compared to levels measured in healthy adults (median: 5.7 ng/ml for MIF and 16.8 ng/ml for DDT), MIF and DDT plasma concentrations were higher in fetuses (median: 48.9 and 29.6 ng/ml), increased further at birth (median: 82.6 and 52.0 ng/ml), reached strikingly elevated levels on postnatal day 4 (median: 109.5 and 121.6 ng/ml), and decreased to adult levels during the first months of life. A strong correlation was observed between MIF and DDT concentrations in all age groups (R = 0.91, P < 0.0001). MIF and DDT levels correlated with concentrations of vascular endothelial growth factor, a protein upregulated under low oxygen tension and implicated in vascular and lung development (R = 0.70, P < 0.0001 for MIF and R = 0.65, P < 0.0001 for DDT). In very preterm infants, lower levels of MIF and DDT on postnatal day 6 were associated with an increased risk of developing bronchopulmonary dysplasia and late-onset neonatal sepsis. Thus, MIF and DDT plasma levels show a highly specific developmental profile in early life, supporting an important role for these cytokines during the neonatal period., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2017

61. GATA transcription factors in testicular adrenal rest tumours

Author

Engels, Manon, primary, Span, Paul N, additional, Mitchell, Rod T, additional, Heuvel, Joop J T M, additional, Marijnissen-van Zanten, Monica A, additional, van Herwaarden, Antonius E, additional, Hulsbergen-van de Kaa, Christina A, additional, Oosterwijk, Egbert, additional, Stikkelbroeck, Nike M, additional, Smith, Lee B, additional, Sweep, Fred C G J, additional, and Claahsen-van der Grinten, Hedi L, additional

Published
2017
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62. Phosphoserine aminotransferase 1 is associated to poor outcome on tamoxifen therapy in recurrent breast cancer

Author

De Marchi, Tommaso, primary, Timmermans, Mieke A., additional, Sieuwerts, Anieta M., additional, Smid, Marcel, additional, Look, Maxime P., additional, Grebenchtchikov, Nicolai, additional, Sweep, Fred C. G. J., additional, Smits, Jan G., additional, Magdolen, Viktor, additional, van Deurzen, Carolien H. M., additional, Foekens, John A., additional, Umar, Arzu, additional, and Martens, John W., additional

Published
2017
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63. Plasma Levels of Macrophage Migration Inhibitory Factor and d-Dopachrome Tautomerase Show a Highly Specific Profile in Early Life

Author

Roger, Thierry, primary, Schlapbach, Luregn J., additional, Schneider, Anina, additional, Weier, Manuela, additional, Wellmann, Sven, additional, Marquis, Patrick, additional, Vermijlen, David, additional, Sweep, Fred C. G. J., additional, Leng, Lin, additional, Bucala, Richard, additional, Calandra, Thierry, additional, and Giannoni, Eric, additional

Published
2017
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64. 4-protein signature predicting tamoxifen treatment outcome in recurrent breast cancer

Author

De Marchi, Tommaso, Liu, Ning Qing, Stingl, Cristoph, Timmermans, Mieke A., Smid, Marcel, Look, Maxime P., Tjoa, Mila, Braakman, Rene B. H., Opdam, Mark, Linn, Sabine C., Sweep, Fred C. G. J., Span, Paul N., Kliffen, Mike, Luider, Theo M., Foekens, John A., Martens, John W. M., Umar, Arzu, De Marchi, Tommaso, Liu, Ning Qing, Stingl, Cristoph, Timmermans, Mieke A., Smid, Marcel, Look, Maxime P., Tjoa, Mila, Braakman, Rene B. H., Opdam, Mark, Linn, Sabine C., Sweep, Fred C. G. J., Span, Paul N., Kliffen, Mike, Luider, Theo M., Foekens, John A., Martens, John W. M., and Umar, Arzu

Published
2016

65. Targeted MS Assay Predicting Tamoxifen Resistance in Estrogen-Receptor-Positive Breast Cancer Tissues and Sera

Author

De Marchi, Tommaso, Kuhn, Erik, Dekker, Lennard J, Stingl, Christoph, Braakman, Rene B H, Opdam, Mark, Linn, Sabine C, Sweep, Fred C G J, Span, Paul N, Luider, Theo M, Foekens, John A, Martens, John W M, Carr, Steven A, Umar, Arzu, De Marchi, Tommaso, Kuhn, Erik, Dekker, Lennard J, Stingl, Christoph, Braakman, Rene B H, Opdam, Mark, Linn, Sabine C, Sweep, Fred C G J, Span, Paul N, Luider, Theo M, Foekens, John A, Martens, John W M, Carr, Steven A, and Umar, Arzu

Published
2016

66. Annexin-A1 and caldesmon are associated with resistance to tamoxifen in estrogen receptor positive recurrent breast cancer

Author

De Marchi, Tommaso, Timmermans, Anne M., Smid, Marcel, Look, Maxime P., Stingl, Christoph, Opdam, Mark, Linn, Sabine C., Sweep, Fred C. G. J., Span, Paul N., Kliffen, Mike, van Deurzen, Carolien H. M., Luider, Theo M., Foekens, John A., Martens, John W., Umar, Arzu, De Marchi, Tommaso, Timmermans, Anne M., Smid, Marcel, Look, Maxime P., Stingl, Christoph, Opdam, Mark, Linn, Sabine C., Sweep, Fred C. G. J., Span, Paul N., Kliffen, Mike, van Deurzen, Carolien H. M., Luider, Theo M., Foekens, John A., Martens, John W., and Umar, Arzu

Published
2016

67. Targeted MS Assay Predicting Tamoxifen Resistance in Estrogen-Receptor-Positive Breast Cancer Tissues and Sera

Author

Pathologie, Cancer, De Marchi, Tommaso, Kuhn, Erik, Dekker, Lennard J, Stingl, Christoph, Braakman, Rene B H, Opdam, Mark, Linn, Sabine C, Sweep, Fred C G J, Span, Paul N, Luider, Theo M, Foekens, John A, Martens, John W M, Carr, Steven A, Umar, Arzu, Pathologie, Cancer, De Marchi, Tommaso, Kuhn, Erik, Dekker, Lennard J, Stingl, Christoph, Braakman, Rene B H, Opdam, Mark, Linn, Sabine C, Sweep, Fred C G J, Span, Paul N, Luider, Theo M, Foekens, John A, Martens, John W M, Carr, Steven A, and Umar, Arzu

Published
2016

68. Bilateral Testicular Tumors Resulting in Recurrent Cushing Disease After Bilateral Adrenalectomy

Author

Puar, Troy, primary, Engels, Manon, additional, van Herwaarden, Antonius E., additional, Sweep, Fred C. G. J., additional, Hulsbergen-van de Kaa, Christina, additional, Kamphuis-van Ulzen, Karin, additional, Chortis, Vasileios, additional, Arlt, Wiebke, additional, Stikkelbroeck, Nike, additional, Claahsen-van der Grinten, Hedi L., additional, and Hermus, Ad R. M. M., additional

Published
2016
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69. Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin

Author

Galesloot, Tessel E., primary, Verweij, Niek, additional, Traglia, Michela, additional, Barbieri, Caterina, additional, van Dijk, Freerk, additional, Geurts-Moespot, Anneke J., additional, Girelli, Domenico, additional, Kiemeney, Lambertus A. L. M., additional, Sweep, Fred C. G. J., additional, Swertz, Morris A., additional, van der Meer, Peter, additional, Camaschella, Clara, additional, Toniolo, Daniela, additional, Vermeulen, Sita H., additional, van der Harst, Pim, additional, and Swinkels, Dorine W., additional

Published
2016
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70. The DNA cytosine deaminase APOBEC3B promotes tamoxifen resistance in ER-positive breast cancer

Author

Law, Emily K., primary, Sieuwerts, Anieta M., additional, LaPara, Kelly, additional, Leonard, Brandon, additional, Starrett, Gabriel J., additional, Molan, Amy M., additional, Temiz, Nuri A., additional, Vogel, Rachel Isaksson, additional, Meijer-van Gelder, Marion E., additional, Sweep, Fred C. G. J., additional, Span, Paul N., additional, Foekens, John A., additional, Martens, John W. M., additional, Yee, Douglas, additional, and Harris, Reuben S., additional

Published
2016
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71. Prognostic significance of nuclear expression of UMP-CMP kinase in triple negative breast cancer patients

Author

Liu, Ning Qing, primary, De Marchi, Tommaso, additional, Timmermans, Annemieke, additional, Trapman-Jansen, Anita M. A. C., additional, Foekens, Renée, additional, Look, Maxime P., additional, Smid, Marcel, additional, van Deurzen, Carolien H. M., additional, Span, Paul N., additional, Sweep, Fred C. G. J., additional, Brask, Julie Benedicte, additional, Timmermans-Wielenga, Vera, additional, Foekens, John A., additional, Martens, John W. M., additional, and Umar, Arzu, additional

Published
2016
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72. Targeted MS Assay Predicting Tamoxifen Resistance in Estrogen-Receptor-Positive Breast Cancer Tissues and Sera

Author

De Marchi, Tommaso, primary, Kuhn, Erik, additional, Dekker, Lennard J., additional, Stingl, Christoph, additional, Braakman, Rene B. H., additional, Opdam, Mark, additional, Linn, Sabine C., additional, Sweep, Fred C. G. J., additional, Span, Paul N., additional, Luider, Theo M., additional, Foekens, John A., additional, Martens, John W. M., additional, Carr, Steven A., additional, and Umar, Arzu, additional

Published
2016
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73. Preserved Autonomic Cardiovascular Regulation With Cardiac Pacemaker Inhibition: A Crossover Trial Using High‐Fidelity Cardiovascular Phenotyping

Author

Heusser, Karsten, primary, Tank, Jens, additional, Brinkmann, Julia, additional, Schroeder, Christoph, additional, May, Marcus, additional, Großhennig, Anika, additional, Wenzel, Daniela, additional, Diedrich, André, additional, Sweep, Fred C. G. J., additional, Mehling, Heidrun, additional, Luft, Friedrich C., additional, and Jordan, Jens, additional

Published
2016
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74. Annexin-A1 and caldesmon are associated with resistance to tamoxifen in estrogen receptor positive recurrent breast cancer

Author

De Marchi, Tommaso, primary, Timmermans, Anne M., additional, Smid, Marcel, additional, Look, Maxime P., additional, Stingl, Christoph, additional, Opdam, Mark, additional, Linn, Sabine C., additional, Sweep, Fred C. G. J., additional, Span, Paul N., additional, Kliffen, Mike, additional, van Deurzen, Carolien H. M., additional, Luider, Theo M., additional, Foekens, John A., additional, Martens, John W., additional, and Umar, Arzu, additional

Published
2015
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75. HE4 is superior to CA125 in the detection of recurrent disease in high-risk endometrial cancer patients.

Author

Abbink, Karin, Zusterzeel, Petra L. M., Geurts-Moespot, Anneke J., van Herwaarden, Antonius E., Pijnenborg, Johanna M. A., Sweep, Fred C. G. J., and Massuger, Leon F. A. G.

Subjects
ENDOMETRIAL cancer, BLOOD serum analysis, CANCER relapse, CANCER risk factors, METASTASIS, PATIENTS, DIAGNOSIS
Abstract

Objective: To date, biomarkers are not routinely used in endometrial cancer diagnosis, prognosis, and follow-up. The purpose of this study was to evaluate whether serum HE4 was related to clinicopathological risk factors and outcome. Second, the role of serum HE4 and CA125 was assessed as indicator for recurrent disease during follow-up. Methods: A total of 174 patients with endometrial cancer between 1999 and 2009 were selected for this retrospective study. Serum HE4 and CA125 were analyzed at primary diagnosis, during follow-up, and at the time of recurrence. Correlations with clinicopathological factors were studied by univariate and multivariate survival analyses. Lead time was calculated in order to determine which serum marker was elevated prior to clinical detection of recurrent disease. Results: Serum levels of HE4 and CA125 were significantly associated with high tumor grade, myometrial invasion, lymph node involvement, and advanced stage (p<0.01). HE4 was an independent prognostic factor for reduced disease-free survival and overall survival with hazard ratios of 2.96 (95% confidence interval: 1.18-7.99) and 3.27 (95% confidence interval: 1.18-9.02), respectively. At recurrence, 75% of the patients had an elevated HE4 compared to 54% with an elevated CA125. HE4 levels were more frequently elevated in patients with distant metastasis compared to local recurrences, 67% and 37%, respectively. Serum HE4 detected a recurrence with a median of 126 days earlier than clinical confirmation. Conclusion: Elevated serum HE4 is an independent risk factor for reduced disease-free survival and overall survival. HE4 seems to be superior to CA125 in the detection of recurrent disease during follow-up, mainly in high-risk endometrial cancer patients who are more prone to distant metastasis. [ABSTRACT FROM AUTHOR]

Published
2018
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78. Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency.

Author

Mooij, Christiaan F., van Herwaarden, Antonius E., Sweep, Fred C. G. J., Roeleveld, Nel, de Korte, Chris L., Kapusta, Livia, and Claahsen-van der Grinten, Hedi L.

Abstract

Background: The aim of the study was to evaluate the cardiovascular and metabolic risk profile in pediatric patients with congenital adrenal hyperplasia (CAH). Methods: A cross-sectional study was performed in 27 CAH patients (8-16 years). Blood samples were taken to evaluate circulating cardiovascular risk (CVR) markers. Insulin resistance (IR) was evaluated by homeostatic model assessment (HOMA)-IR. Blood pressure (BP) was evaluated by office BP measurements and 24-h ambulatory BP measurements (24-h ABPM). Dual energy X-ray absorptiometry (DXA) scans were performed in patients >12 years. Results: Body mass index (BMI) standard deviation score (SDS) was elevated (0.67), with seven patients being overweight and four obese. DXA scans showed percentage body fat SDS of 1.59. Office BP levels were higher than reference values. Twenty-four hour ABPM showed systolic hypertension (n = 5), while 11 patients had a nondipping BP profile. HOMA-IR was >75th percentile in 12 patients. Conclusions: CAH patients develop an unfavorable CVR profile already in childhood with increased BMI, increased fat mass, elevated BP levels, a non-dipping BP profile and IR compared to population reference values. [ABSTRACT FROM AUTHOR]

Published
2017
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84. Longitudinal trends in thyroid function in relation to iodine intake: ongoing changes of thyroid function despite adequate current iodine status

Author

van de Ven, Annenienke C, primary, Netea-Maier, Romana T, additional, Ross, H Alec, additional, van Herwaarden, Teun A E, additional, Holewijn, Suzanne, additional, de Graaf, Jacqueline, additional, Kiemeney, Bart L A, additional, van Tienoven, Doorlène, additional, Wetzels, Jack F M, additional, Smit, Johannes W, additional, Sweep, Fred C G J, additional, Hermus, Ad R M M, additional, and den Heijer, Martin, additional

Published
2014
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85. A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function

Author

McCarthy, Mark I., 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, McCarthy, Mark I., 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., and Naitza, Silvia

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.

Published
2013

87. Does stress affect the joints? Daily stressors, stress vulnerability, immune and HPA axis activity, and short-term disease and symptom fluctuations in rheumatoid arthritis

Author

Evers, Andrea W M, primary, Verhoeven, Elisabeth W M, additional, van Middendorp, Henriët, additional, Sweep, Fred C G J, additional, Kraaimaat, Floris W, additional, Donders, A Rogier T, additional, Eijsbouts, Agnes E, additional, van Laarhoven, Antoinette I M, additional, de Brouwer, Sabine J M, additional, Wirken, Lieke, additional, Radstake, Timothy R D J, additional, and van Riel, Piet L C M, additional

Published
2013
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91. A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function

Author

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

Published
2013
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92. ADAMTS8 and ADAMTS15 expression predicts survival in human breast carcinoma

Author

Porter, Sarah, Span, Paul N, Sweep, Fred C G J, Tjan-Heijnen, Vivianne C G, Pennington, Caroline J, Pedersen, Tanja Xenia, Johnsen, Morten, Lund, Leif R, Rømer, John, Edwards, Dylan R, Porter, Sarah, Span, Paul N, Sweep, Fred C G J, Tjan-Heijnen, Vivianne C G, Pennington, Caroline J, Pedersen, Tanja Xenia, Johnsen, Morten, Lund, Leif R, Rømer, John, and Edwards, Dylan R

Abstract

Udgivelsesdato: 2006-Mar-1, We recently undertook expression profiling of all 19 human ADAMTS metalloproteinases (a disintegrin and metalloproteinase with thrombospondin motifs) in malignant and non-neoplastic breast tissue and showed that 11 of the ADAMTS genes are dysregulated in breast carcinoma. We identified a subgroup of ADAMTSs, based on functional and amino acid sequence similarity (ADAMTS1, 4, 5, 8 and 15), to be the focus of further study in breast carcinoma. Further RNA expression analysis by real-time PCR on a different cohort of 229 patients with breast cancer has identified ADAMTS8 as a predictor of poor overall survival (OS) (hazard ratio (HR) = 2.20, 95% C.I. = 1.29-3.74, p = 0.004) and confirmed ADAMTS15 as a predictor of prolonged relapse-free survival (RFS) (HR = 0.54, 95% C.I. = 0.32-0.89, p = 0.016). We explored the differences in survival of the 4 groups that could be categorized based on the expression levels of ADAMTS8 and ADAMTS15. For both RFS and OS, the group with high ADAMTS8 and low ADAMTS15 expression had a particularly poor prognosis. This group had a 3-fold higher chance of recurrence (HR = 3.03, 95% C.I. = 1.49-6.15, p = 0.001) and a greater than 5-fold higher chance of death (HR = 5.40, 95% C.I. = 2.16-13.5, p < 0.001) than the most favorable prognostic group. This prediction of poor prognosis by ADAMTS8 and ADAMTS15 expression was found to be independent of other classical clinicopathological factors. Results observed in FVB-PyMT mice, a robust transgenic model of highly metastatic breast carcinoma, fitted the expectation that relatively high expression levels of ADAMTS8 together with low expression levels of ADAMTS15 seen in human breast carcinoma are associated with a poor clinical outcome. In summary, ADAMTS8 and ADAMTS15 have emerged as novel predictors of survival in patients with breast carcinoma.

Published
2006

94. Reference intervals for plasma free metanephrines with an age adjustment for normetanephrine for optimized laboratory testing of phaeochromocytoma

Author

Eisenhofer, Graeme, primary, Lattke, Peter, additional, Herberg, Maria, additional, Siegert, Gabriele, additional, Qin, Nan, additional, Därr, Roland, additional, Hoyer, Jana, additional, Villringer, Arno, additional, Prejbisz, Aleksander, additional, Januszewicz, Andrzej, additional, Remaley, Alan, additional, Martucci, Victoria, additional, Pacak, Karel, additional, Ross, H Alec, additional, Sweep, Fred C G J, additional, and Lenders, Jacques W M, additional

Published
2012
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