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49 results on '"Camaschella, C."'

1. The EHA Research Roadmap: Anemias

Author: Iolascon, A., Rivella, S., Anagnou, N.P., Camaschella, C., Swinkels, D.W., Muckenthaler, M.U., Porto, G., Barcellini, W., Andolfo, I., Risitano, A.M., Kattamis, A., Cappellini, M.D., Taher, A.T., Franceschi, L. De, Rees, D., Russo, R., Tamary, H., Stauder, R., Girelli, D., Iolascon, A., Rivella, S., Anagnou, N.P., Camaschella, C., Swinkels, D.W., Muckenthaler, M.U., Porto, G., Barcellini, W., Andolfo, I., Risitano, A.M., Kattamis, A., Cappellini, M.D., Taher, A.T., Franceschi, L. De, Rees, D., Russo, R., Tamary, H., Stauder, R., and Girelli, D.
Abstract: Contains fulltext : 238684.pdf (Publisher’s version ) (Open Access)
Published: 2021

2. The EHA Research Roadmap: Anemias

Author: Iolascon, A., Rivella, S., Anagnou, N.P., Camaschella, C., Swinkels, D.W., Muckenthaler, M.U., Porto, G., Barcellini, W., Andolfo, I., Risitano, A.M., Kattamis, A., Cappellini, M.D., Taher, A.T., Franceschi, L. De, Rees, D., Russo, R., Tamary, H., Stauder, R., Girelli, D., Iolascon, A., Rivella, S., Anagnou, N.P., Camaschella, C., Swinkels, D.W., Muckenthaler, M.U., Porto, G., Barcellini, W., Andolfo, I., Risitano, A.M., Kattamis, A., Cappellini, M.D., Taher, A.T., Franceschi, L. De, Rees, D., Russo, R., Tamary, H., Stauder, R., and Girelli, D.
Abstract: Contains fulltext : 238684.pdf (Publisher’s version ) (Open Access)
Published: 2021

3. The EHA Research Roadmap: Anemias

Author: Iolascon, A., Rivella, S., Anagnou, N.P., Camaschella, C., Swinkels, D.W., Muckenthaler, M.U., Porto, G., Barcellini, W., Andolfo, I., Risitano, A.M., Kattamis, A., Cappellini, M.D., Taher, A.T., Franceschi, L. De, Rees, D., Russo, R., Tamary, H., Stauder, R., Girelli, D., Iolascon, A., Rivella, S., Anagnou, N.P., Camaschella, C., Swinkels, D.W., Muckenthaler, M.U., Porto, G., Barcellini, W., Andolfo, I., Risitano, A.M., Kattamis, A., Cappellini, M.D., Taher, A.T., Franceschi, L. De, Rees, D., Russo, R., Tamary, H., Stauder, R., and Girelli, D.
Abstract: Contains fulltext : 238684.pdf (Publisher’s version ) (Open Access)
Published: 2021

4. A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis

Author: Ravasi, G, Pelucchi, S, Mariani, R, Silvestri, L, Camaschella, C, Piperno, A, Ravasi, Giulia, Pelucchi, Sara, Mariani, Raffaella, Silvestri, Laura, Camaschella, Clara, Piperno, Alberto, Ravasi, G, Pelucchi, S, Mariani, R, Silvestri, L, Camaschella, C, Piperno, A, Ravasi, Giulia, Pelucchi, Sara, Mariani, Raffaella, Silvestri, Laura, Camaschella, Clara, and Piperno, Alberto
Published: 2018

5. A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis

Author: Ravasi, G, Pelucchi, S, Mariani, R, Silvestri, L, Camaschella, C, Piperno, A, Ravasi, Giulia, Pelucchi, Sara, Mariani, Raffaella, Silvestri, Laura, Camaschella, Clara, Piperno, Alberto, Ravasi, G, Pelucchi, S, Mariani, R, Silvestri, L, Camaschella, C, Piperno, A, Ravasi, Giulia, Pelucchi, Sara, Mariani, Raffaella, Silvestri, Laura, Camaschella, Clara, and Piperno, Alberto
Published: 2018

6. A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis

Author: Girelli, D, Trombini, P, Busti, F, Campostrini, N, Sandri, M, Pelucchi, S, Westerman, M, Ganz, T, Nemeth, E, Piperno, A, Camaschella, C, PELUCCHI, SARA, PIPERNO, ALBERTO, Camaschella, C., Girelli, D, Trombini, P, Busti, F, Campostrini, N, Sandri, M, Pelucchi, S, Westerman, M, Ganz, T, Nemeth, E, Piperno, A, Camaschella, C, PELUCCHI, SARA, PIPERNO, ALBERTO, and Camaschella, C.
Abstract: Background: Inadequate hepcidin production leads to iron overload in nearly all types of hemochromatosis. We explored the acute response of hepcidin to iron challenge in 25 patients with HFE-hemochromatosis, in two with TFR2-hemochromatosis and in 13 controls. Sixteen patients (10 C282Y/C282Y homozygotes, 6 C282Y/H63D compound heterozygotes) had increased iron stores, while nine (6 C282Y/C282Y homozygotes, 3 C282Y/H63D compound heterozygotes) were studied after phlebotomy-induced normalization of iron stores. Design and Methods: We analyzed serum iron, transferrin saturation, and serum hepcidin by both enzyme-linked immunosorbent assay and mass-spectrometry at baseline, and 4, 8, 12 and 24 hours after a single 65-mg dose of oral iron. Results: Serum iron and transferrin saturation significantly increased at 4 hours and returned to baseline values at 8-12 hours in all groups, except in the iron-normalized patients who showed the highest and longest increase of both parameters. The level of hepcidin increased significantly at 4 hours and returned to baseline at 24 hours in controls and in the C282Y/H63D compound het-erozygotes at diagnosis. The hepcidin response was smaller in C282Y-homozygotes than in controls, barely detectable in the patients with iron-depleted HFE-hemochromatosis and absent in those with TFR2-hemochromatosis. Conclusions: Our results are consistent with a scenario in which TFR2 plays a prominent and HFE a contributory role in the hepcidin response to a dose of oral iron. In iron-normalized patients with HFE hemochromatosis, both the low baseline hepcidin level and the weak response to iron contribute to hyperabsorption of iron. © 2011 Ferrata Storti Foundation.
Published: 2011

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

Author: Galesloot, T.E., Verweij, N., Traglia, M., Barbieri, C., Dijk, F. van, Geurts-Moespot, A.J., Girelli, D., Kiemeney, L.A.L.M., Sweep, C.G.J., Swertz, M.A., Meer, P. van der, Camaschella, C., Toniolo, D., Vermeulen, S.H., Harst, P. van der, Swinkels, D.W., Galesloot, T.E., Verweij, N., Traglia, M., Barbieri, C., Dijk, F. van, Geurts-Moespot, A.J., Girelli, D., Kiemeney, L.A.L.M., Sweep, C.G.J., Swertz, M.A., Meer, P. van der, Camaschella, C., Toniolo, D., Vermeulen, S.H., Harst, P. van der, and Swinkels, D.W.
Abstract: Contains fulltext : 170964.pdf (publisher's version ) (Open Access), Serum hepcidin concentration is regulated by iron status, inflammation, erythropoiesis and numerous other factors, but underlying processes are incompletely understood. We studied the association of common and rare single nucleotide variants (SNVs) with serum hepcidin in one Italian study and two large Dutch population-based studies. We genotyped common SNVs with genome-wide association study (GWAS) arrays and subsequently performed imputation using the 1000 Genomes reference panel. Cohort-specific GWAS were performed for log-transformed serum hepcidin, adjusted for age and gender, and results were combined in a fixed-effects meta-analysis (total N 6,096). Six top SNVs (p<5x10-6) were genotyped in 3,821 additional samples, but associations were not replicated. Furthermore, we meta-analyzed cohort-specific exome array association results of rare SNVs with serum hepcidin that were available for two of the three cohorts (total N 3,226), but no exome-wide significant signal (p<1.4x10-6) was identified. Gene-based meta-analyses revealed 19 genes that showed significant association with hepcidin. Our results suggest the absence of common SNVs and rare exonic SNVs explaining a large proportion of phenotypic variation in serum hepcidin. We recommend extension of our study once additional substantial cohorts with hepcidin measurements, GWAS and/or exome array data become available in order to increase power to identify variants that explain a smaller proportion of hepcidin variation. In addition, we encourage follow-up of the potentially interesting genes that resulted from the gene-based analysis of low-frequency and rare variants.
Published: 2016

8. The European Hematology Association Roadmap for European Hematology Research: a consensus document.

Author: EHA Roadmap for European Hematology, Research, Engert, A., Balduini, C., Brand, A., Coiffier, B., Cordonnier, C., Döhner, H., de Wit TD., Eichinger, S., Fibbe, W., Green, T., de Haas, F., Iolascon, A., Jaffredo, T., Rodeghiero, F., Salles, G., Schuringa, JJ., André, M., Andre-Schmutz, I., Bacigalupo, A., Bochud, PY., Boer, Md., Bonini, C., Camaschella, C., Cant, A., Cappellini, MD., Cazzola, M., Celso, CL., Dimopoulos, M., Douay, L., Dzierzak, E., Einsele, H., Ferreri, A., De Franceschi, L., Gaulard, P., Gottgens, B., Greinacher, A., Gresele, P., Gribben, J., de Haan, G., Hansen, JB., Hochhaus, A., Kadir, R., Kaveri, S., Kouskoff, V., Kühne, T., Kyrle, P., Ljungman, P., Maschmeyer, G., Méndez-Ferrer£££Simón£££ S., Milsom, M., Mummery, C., Ossenkoppele, G., Pecci, A., Peyvandi, F., Philipsen, S., Reitsma, P., Ribera, JM., Risitano, A., Rivella, S., Ruf, W., Schroeder, T., Scully, M., Socie, G., Staal, F., Stanworth, S., Stauder, R., Stilgenbauer, S., Tamary, H., Theilgaard-Mönch, K., Thein, SL., Tilly, H., Trneny, M., Vainchenker, W., Vannucchi, AM., Viscoli, C., Vrielink, H., Zaaijer, H., Zanella, A., Zolla, L., Zwaginga, JJ., Martinez, PA., van den Akker, E., Allard, S., Anagnou, N., Andolfo, I., Andrau, JC., Angelucci, E., Anstee, D., Aurer, I., Avet-Loiseau, H., Aydinok, Y., Bakchoul, T., Balduini, A., Barcellini, W., Baruch, D., Baruchel, A., Bayry, J., Bento, C., van den Berg, A., Bernardi, R., Bianchi, P., Bigas, A., Biondi, A., Bohonek, M., Bonnet, D., Borchmann, P., Borregaard, N., Brækkan, S., van den Brink, M., Brodin, E., Bullinger, L., Buske, C., Butzeck, B., Cammenga, J., Campo, E., Carbone, A., Cervantes, F., Cesaro, S., Charbord, P., Claas, F., Cohen, H., Conard, J., Coppo, P., Corrons, JL., Costa, Ld., Davi, F., Delwel, R., Dianzani, I., Domanović, D., Donnelly, P., Drnov?ek£££Tadeja Dovč£££ TD., Dreyling, M., Du, MQ., Dufour, C., Durand, C., Efremov, D., Eleftheriou, A., Elion, J., Emonts, M., Engelhardt, M., Ezine, S., Falkenburg, F., Favier, R., Federico, M., Fenaux, P., Fitzgibbon, J., Flygare, J., Foà, R., Forrester, L., Galacteros, F., Garagiola, I., Gardiner, C., Garraud, O., van Geet, C., Geiger, H., Geissler, J., Germing, U., Ghevaert, C., Girelli, D., Godeau, B., Gökbuget, N., Goldschmidt, H., Goodeve, A., Graf, T., Graziadei, G., Griesshammer, M., Gruel, Y., Guilhot, F., von Gunten, S., Gyssens, I., Halter, J., Harrison, C., Harteveld, C., Hellström-Lindberg, E., Hermine, O., Higgs, D., Hillmen, P., Hirsch, H., Hoskin, P., Huls, G., Inati, A., Johnson, P., Kattamis, A., Kiefel, V., Kleanthous, M., Klump, H., Krause, D., Hovinga, JK., Lacaud, G., Lacroix-Desmazes, S., Landman-Parker, J., LeGouill, S., Lenz, G., von Lilienfeld-Toal, M., von Lindern, M., Lopez-Guillermo, A., Lopriore, E., Lozano, M., MacIntyre, E., Makris, M., Mannhalter, C., Martens, J., Mathas, S., Matzdorff, A., Medvinsky, A., Menendez, P., Migliaccio, AR., Miharada, K., Mikulska, M., Minard, V., Montalbán, C., de Montalembert, M., Montserrat, E., Morange, PE., Mountford, J., Muckenthaler, M., Müller-Tidow, C., Mumford, A., Nadel, B., Navarro, JT., Nemer, We., Noizat-Pirenne, F., O'Mahony, B., Oldenburg, J., Olsson, M., Oostendorp, R., Palumbo, A., Passamonti, F., Patient, R., Peffault, R., Pflumio, F., Pierelli, L., Piga, A., Pollard, D., Raaijmakers, M., Radford, J., Rambach, R., Rao, AK., Raslova, H., Rebulla, P., Rees, D., Ribrag, V., Rijneveld, A., Rinalducci, S., Robak, T., Roberts, I., Rodrigues, C., Rosendaal, F., Rosenwald, A., Rule, S., Russo, R., Saglio, G., Sanchez, M., Scharf, RE., Schlenke, P., Semple, J., Sierra, J., So-Osman, C., Soria, JM., Stamatopoulos, K., Stegmayr, B., Stunnenberg, H., Swinkels, D., Barata£££João Pedro Taborda£££ JP., Taghon, T., Taher, A., Terpos, E., Thachil, J., Tissot, JD., Touw, I., Toye, A., Trappe, R., Traverse-Glehen, A., Unal, S., Vaulont, S., Viprakasit, V., Vitolo, U., van Wijk, R., Wójtowicz, A., Zeerleder, S., Zieger, B., de Wit, T.D., Schuringa, J.J., EHA Roadmap for European Hematology, Research, Engert, A., Balduini, C., Brand, A., Coiffier, B., Cordonnier, C., Döhner, H., de Wit TD., Eichinger, S., Fibbe, W., Green, T., de Haas, F., Iolascon, A., Jaffredo, T., Rodeghiero, F., Salles, G., Schuringa, JJ., André, M., Andre-Schmutz, I., Bacigalupo, A., Bochud, PY., Boer, Md., Bonini, C., Camaschella, C., Cant, A., Cappellini, MD., Cazzola, M., Celso, CL., Dimopoulos, M., Douay, L., Dzierzak, E., Einsele, H., Ferreri, A., De Franceschi, L., Gaulard, P., Gottgens, B., Greinacher, A., Gresele, P., Gribben, J., de Haan, G., Hansen, JB., Hochhaus, A., Kadir, R., Kaveri, S., Kouskoff, V., Kühne, T., Kyrle, P., Ljungman, P., Maschmeyer, G., Méndez-Ferrer£££Simón£££ S., Milsom, M., Mummery, C., Ossenkoppele, G., Pecci, A., Peyvandi, F., Philipsen, S., Reitsma, P., Ribera, JM., Risitano, A., Rivella, S., Ruf, W., Schroeder, T., Scully, M., Socie, G., Staal, F., Stanworth, S., Stauder, R., Stilgenbauer, S., Tamary, H., Theilgaard-Mönch, K., Thein, SL., Tilly, H., Trneny, M., Vainchenker, W., Vannucchi, AM., Viscoli, C., Vrielink, H., Zaaijer, H., Zanella, A., Zolla, L., Zwaginga, JJ., Martinez, PA., van den Akker, E., Allard, S., Anagnou, N., Andolfo, I., Andrau, JC., Angelucci, E., Anstee, D., Aurer, I., Avet-Loiseau, H., Aydinok, Y., Bakchoul, T., Balduini, A., Barcellini, W., Baruch, D., Baruchel, A., Bayry, J., Bento, C., van den Berg, A., Bernardi, R., Bianchi, P., Bigas, A., Biondi, A., Bohonek, M., Bonnet, D., Borchmann, P., Borregaard, N., Brækkan, S., van den Brink, M., Brodin, E., Bullinger, L., Buske, C., Butzeck, B., Cammenga, J., Campo, E., Carbone, A., Cervantes, F., Cesaro, S., Charbord, P., Claas, F., Cohen, H., Conard, J., Coppo, P., Corrons, JL., Costa, Ld., Davi, F., Delwel, R., Dianzani, I., Domanović, D., Donnelly, P., Drnov?ek£££Tadeja Dovč£££ TD., Dreyling, M., Du, MQ., Dufour, C., Durand, C., Efremov, D., Eleftheriou, A., Elion, J., Emonts, M., Engelhardt, M., Ezine, S., Falkenburg, F., Favier, R., Federico, M., Fenaux, P., Fitzgibbon, J., Flygare, J., Foà, R., Forrester, L., Galacteros, F., Garagiola, I., Gardiner, C., Garraud, O., van Geet, C., Geiger, H., Geissler, J., Germing, U., Ghevaert, C., Girelli, D., Godeau, B., Gökbuget, N., Goldschmidt, H., Goodeve, A., Graf, T., Graziadei, G., Griesshammer, M., Gruel, Y., Guilhot, F., von Gunten, S., Gyssens, I., Halter, J., Harrison, C., Harteveld, C., Hellström-Lindberg, E., Hermine, O., Higgs, D., Hillmen, P., Hirsch, H., Hoskin, P., Huls, G., Inati, A., Johnson, P., Kattamis, A., Kiefel, V., Kleanthous, M., Klump, H., Krause, D., Hovinga, JK., Lacaud, G., Lacroix-Desmazes, S., Landman-Parker, J., LeGouill, S., Lenz, G., von Lilienfeld-Toal, M., von Lindern, M., Lopez-Guillermo, A., Lopriore, E., Lozano, M., MacIntyre, E., Makris, M., Mannhalter, C., Martens, J., Mathas, S., Matzdorff, A., Medvinsky, A., Menendez, P., Migliaccio, AR., Miharada, K., Mikulska, M., Minard, V., Montalbán, C., de Montalembert, M., Montserrat, E., Morange, PE., Mountford, J., Muckenthaler, M., Müller-Tidow, C., Mumford, A., Nadel, B., Navarro, JT., Nemer, We., Noizat-Pirenne, F., O'Mahony, B., Oldenburg, J., Olsson, M., Oostendorp, R., Palumbo, A., Passamonti, F., Patient, R., Peffault, R., Pflumio, F., Pierelli, L., Piga, A., Pollard, D., Raaijmakers, M., Radford, J., Rambach, R., Rao, AK., Raslova, H., Rebulla, P., Rees, D., Ribrag, V., Rijneveld, A., Rinalducci, S., Robak, T., Roberts, I., Rodrigues, C., Rosendaal, F., Rosenwald, A., Rule, S., Russo, R., Saglio, G., Sanchez, M., Scharf, RE., Schlenke, P., Semple, J., Sierra, J., So-Osman, C., Soria, JM., Stamatopoulos, K., Stegmayr, B., Stunnenberg, H., Swinkels, D., Barata£££João Pedro Taborda£££ JP., Taghon, T., Taher, A., Terpos, E., Thachil, J., Tissot, JD., Touw, I., Toye, A., Trappe, R., Traverse-Glehen, A., Unal, S., Vaulont, S., Viprakasit, V., Vitolo, U., van Wijk, R., Wójtowicz, A., Zeerleder, S., Zieger, B., de Wit, T.D., and Schuringa, J.J.
Abstract: The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at euro23 billion per year, a level of cost that is not matched in current European hematology research funding. In recent decades, hematology research has improved our fundamental understanding of the biology of blood disorders, and has improved diagnostics and treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap.The EHA Roadmap identifies nine 'sections' in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders.The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients.
Published: 2016

9. The european hematology association roadmap for european hematology research: A consensus document

Author: Engert, A, Balduini, C, Brand, A, Coiffier, B, Cordonnier, C, Döhner, H, De Wit, T, Eichinger, S, Fibbe, W, Green, T, De Haas, F, Iolascon, A, Jaffredo, T, Rodeghiero, F, Sall Es, G, Schuringa, J, André, M, Andre Schmutz, I, Bacigalupo, A, Bochud, P, Den Boer, M, Bonini, C, Camaschella, C, Cant, A, Cappellini, M, Cazzola, M, Celso, C, Dimopoulos, M, Douay, L, Dzierzak, E, Einsele, H, Ferreri, A, De Franceschi, L, Gaulard, P, Gottgens, B, Greinacher, A, Gresele, P, Gribben, J, De Haan, G, Hansen, J, Hochhaus, A, Kadir, R, Kaveri, S, Kouskoff, V, Kühne, T, Kyrle, P, Ljungman, P, Maschmeyer, G, Méndez Ferrer, S, Milsom, M, Mummery, C, Ossenkoppele, G, Pecci, A, Peyvandi, F, Philipsen, S, Reitsma, P, Ribera, J, Risitano, A, Rivella, S, Ruf, W, Schroeder, T, Scully, M, Socie, G, Staal, F, Stanworth, S, Stauder, R, Stilgenbauer, S, Tamary, H, Theilgaard Mönch, K, Thein, S, Tilly, H, Trneny, M, Vainchenker, W, Vannucchi, A, Viscoli, C, Vrielink, H, Zaaijer, H, Zanella, A, Zolla, L, Zwaginga, J, Martinez, P, Van Den Akker, E, Allard, S, Anagnou, N, Andolfo, I, Andrau, J, Angelucci, E, Anstee, D, Aurer, I, Avet Loiseau, H, Aydinok, Y, Bakchoul, T, Balduini, A, Barcellini, W, Baruch, D, Baruchel, A, Bayry, J, Bento, C, Van Den Berg, A, Bernardi, R, Bianchi, P, Bigas, A, Biondi, A, Bohonek, M, Bonnet, D, Borchmann, P, Borregaard, N, Brækkan, S, Van Den Brink, M, Brodin, E, Bullinger, L, Buske, C, Butzeck, B, Cammenga, J, Campo, E, Carbone, A, Cervantes, F, Cesaro, S, Charbord, P, Claas, F, Cohen, H, Conard, J, Coppo, P, Vives Corron, J, Da Costa, L, Davi, F, Delwel, R, Dianzani, I, Domanović, D, Donnelly, P, Drnovšek, T, Dreyling, M, Du, M, Dufour, C, Durand, C, Efremov, D, Eleftheriou, A, Elion, J, Emonts, M, Engelhardt, M, Ezine, S, Falkenburg, F, Favier, R, Federico, M, Fenaux, P, Fitzgibbon, J, Flygare, J, Foà, R, Forrester, L, Galacteros, F, Garagiola, I, Gardiner, C, Garraud, O, Van Geet, C, Geiger, H, Geissler, J, Germing, U, Ghevaert, C, Girelli, D, Godeau, B, Gökbuget, N, Goldschmidt, H, Goodeve, A, Graf, T, Graziadei, G, Griesshammer, M, Gruel, Y, Guilhot, F, Von Gunten, S, Gyssens, I, Halter, J, Harrison, C, Harteveld, C, Hellström Lindberg, E, Hermine, O, Higgs, D, Hillmen, P, Hirsch, H, Hoskin, P, Huls, G, Inati, A, Johnson, P, Kattamis, A, Kiefel, V, Kleanthous, M, Klump, H, Krause, D, Hovinga, J, Lacaud, G, Lacroix Desmazes, S, Landman Parker, J, Legouill, S, Lenz, G, Von Lilienfeld Toal, M, Von Lindern, M, Lopez Guillermo, A, Lopriore, E, Lozano, M, Macintyre, E, Makris, M, Mannhalter, C, Martens, J, Mathas, S, Matzdorff, A, Medvinsky, A, Menendez, P, Migliaccio, A, Miharada, K, Mikulska, M, Minard, V, Montalbán, C, De Montalembert, M, Montserrat, E, Morange, P, Mountford, J, Muckenthaler, M, Müller Tidow, C, Mumford, A, Nadel, B, Navarro, J, El Nemer, W, Noizat Pirenne, F, O’Mahony, B, Oldenburg, J, Olsson, M, Oostendorp, R, Palumbo, A, Passamonti, F, Patient, R, De Latour, R, Pflumio, F, Pierelli, L, Piga, A, Pollard, D, Raaijmakers, M, Radford, J, Rambach, R, Koneti Rao, A, Raslova, H, Rebulla, P, Rees, D, Ribrag, V, Rijneveld, A, Rinalducci, S, Robak, T, Roberts, I, Rodrigues, C, Rosendaal, F, Rosenwald, A, Rule, S, Russo, R, Saglio, G, Sanchez, M, Scharf, R, Schlenke, P, Semple, J, Sierra, J, So Osman, C, Soria, J, Stamatopoulos, K, Stegmayr, B, Stunnenberg, H, Swinkels, D, Barata, J, Taghon, T, Taher, A, Terpos, E, Thachil, J, Tissot, J, Touw, I, Toye, A, Trappe, R, Traverse Glehen, A, Unal, S, Vaulont, S, Viprakasit, V, Vitolo, U, Van Wijk, R, Wójtowicz, A, Zeerleder, S, Zieger, B, Zieger, B., ZANELLA, ALBERTO, BIONDI, ANDREA, Engert, A, Balduini, C, Brand, A, Coiffier, B, Cordonnier, C, Döhner, H, De Wit, T, Eichinger, S, Fibbe, W, Green, T, De Haas, F, Iolascon, A, Jaffredo, T, Rodeghiero, F, Sall Es, G, Schuringa, J, André, M, Andre Schmutz, I, Bacigalupo, A, Bochud, P, Den Boer, M, Bonini, C, Camaschella, C, Cant, A, Cappellini, M, Cazzola, M, Celso, C, Dimopoulos, M, Douay, L, Dzierzak, E, Einsele, H, Ferreri, A, De Franceschi, L, Gaulard, P, Gottgens, B, Greinacher, A, Gresele, P, Gribben, J, De Haan, G, Hansen, J, Hochhaus, A, Kadir, R, Kaveri, S, Kouskoff, V, Kühne, T, Kyrle, P, Ljungman, P, Maschmeyer, G, Méndez Ferrer, S, Milsom, M, Mummery, C, Ossenkoppele, G, Pecci, A, Peyvandi, F, Philipsen, S, Reitsma, P, Ribera, J, Risitano, A, Rivella, S, Ruf, W, Schroeder, T, Scully, M, Socie, G, Staal, F, Stanworth, S, Stauder, R, Stilgenbauer, S, Tamary, H, Theilgaard Mönch, K, Thein, S, Tilly, H, Trneny, M, Vainchenker, W, Vannucchi, A, Viscoli, C, Vrielink, H, Zaaijer, H, Zanella, A, Zolla, L, Zwaginga, J, Martinez, P, Van Den Akker, E, Allard, S, Anagnou, N, Andolfo, I, Andrau, J, Angelucci, E, Anstee, D, Aurer, I, Avet Loiseau, H, Aydinok, Y, Bakchoul, T, Balduini, A, Barcellini, W, Baruch, D, Baruchel, A, Bayry, J, Bento, C, Van Den Berg, A, Bernardi, R, Bianchi, P, Bigas, A, Biondi, A, Bohonek, M, Bonnet, D, Borchmann, P, Borregaard, N, Brækkan, S, Van Den Brink, M, Brodin, E, Bullinger, L, Buske, C, Butzeck, B, Cammenga, J, Campo, E, Carbone, A, Cervantes, F, Cesaro, S, Charbord, P, Claas, F, Cohen, H, Conard, J, Coppo, P, Vives Corron, J, Da Costa, L, Davi, F, Delwel, R, Dianzani, I, Domanović, D, Donnelly, P, Drnovšek, T, Dreyling, M, Du, M, Dufour, C, Durand, C, Efremov, D, Eleftheriou, A, Elion, J, Emonts, M, Engelhardt, M, Ezine, S, Falkenburg, F, Favier, R, Federico, M, Fenaux, P, Fitzgibbon, J, Flygare, J, Foà, R, Forrester, L, Galacteros, F, Garagiola, I, Gardiner, C, Garraud, O, Van Geet, C, Geiger, H, Geissler, J, Germing, U, Ghevaert, C, Girelli, D, Godeau, B, Gökbuget, N, Goldschmidt, H, Goodeve, A, Graf, T, Graziadei, G, Griesshammer, M, Gruel, Y, Guilhot, F, Von Gunten, S, Gyssens, I, Halter, J, Harrison, C, Harteveld, C, Hellström Lindberg, E, Hermine, O, Higgs, D, Hillmen, P, Hirsch, H, Hoskin, P, Huls, G, Inati, A, Johnson, P, Kattamis, A, Kiefel, V, Kleanthous, M, Klump, H, Krause, D, Hovinga, J, Lacaud, G, Lacroix Desmazes, S, Landman Parker, J, Legouill, S, Lenz, G, Von Lilienfeld Toal, M, Von Lindern, M, Lopez Guillermo, A, Lopriore, E, Lozano, M, Macintyre, E, Makris, M, Mannhalter, C, Martens, J, Mathas, S, Matzdorff, A, Medvinsky, A, Menendez, P, Migliaccio, A, Miharada, K, Mikulska, M, Minard, V, Montalbán, C, De Montalembert, M, Montserrat, E, Morange, P, Mountford, J, Muckenthaler, M, Müller Tidow, C, Mumford, A, Nadel, B, Navarro, J, El Nemer, W, Noizat Pirenne, F, O’Mahony, B, Oldenburg, J, Olsson, M, Oostendorp, R, Palumbo, A, Passamonti, F, Patient, R, De Latour, R, Pflumio, F, Pierelli, L, Piga, A, Pollard, D, Raaijmakers, M, Radford, J, Rambach, R, Koneti Rao, A, Raslova, H, Rebulla, P, Rees, D, Ribrag, V, Rijneveld, A, Rinalducci, S, Robak, T, Roberts, I, Rodrigues, C, Rosendaal, F, Rosenwald, A, Rule, S, Russo, R, Saglio, G, Sanchez, M, Scharf, R, Schlenke, P, Semple, J, Sierra, J, So Osman, C, Soria, J, Stamatopoulos, K, Stegmayr, B, Stunnenberg, H, Swinkels, D, Barata, J, Taghon, T, Taher, A, Terpos, E, Thachil, J, Tissot, J, Touw, I, Toye, A, Trappe, R, Traverse Glehen, A, Unal, S, Vaulont, S, Viprakasit, V, Vitolo, U, Van Wijk, R, Wójtowicz, A, Zeerleder, S, Zieger, B, Zieger, B., ZANELLA, ALBERTO, and BIONDI, ANDREA
Abstract: The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at ∈ European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better fu treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap. The EHA Roadmap identifies nine ‘sections’ in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders. The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients.
Published: 2016

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

Author: Galesloot, T.E., Verweij, N., Traglia, M., Barbieri, C., Dijk, F. van, Geurts-Moespot, A.J., Girelli, D., Kiemeney, L.A.L.M., Sweep, C.G.J., Swertz, M.A., Meer, P. van der, Camaschella, C., Toniolo, D., Vermeulen, S.H., Harst, P. van der, Swinkels, D.W., Galesloot, T.E., Verweij, N., Traglia, M., Barbieri, C., Dijk, F. van, Geurts-Moespot, A.J., Girelli, D., Kiemeney, L.A.L.M., Sweep, C.G.J., Swertz, M.A., Meer, P. van der, Camaschella, C., Toniolo, D., Vermeulen, S.H., Harst, P. van der, and Swinkels, D.W.
Abstract: Contains fulltext : 170964.pdf (publisher's version ) (Open Access), Serum hepcidin concentration is regulated by iron status, inflammation, erythropoiesis and numerous other factors, but underlying processes are incompletely understood. We studied the association of common and rare single nucleotide variants (SNVs) with serum hepcidin in one Italian study and two large Dutch population-based studies. We genotyped common SNVs with genome-wide association study (GWAS) arrays and subsequently performed imputation using the 1000 Genomes reference panel. Cohort-specific GWAS were performed for log-transformed serum hepcidin, adjusted for age and gender, and results were combined in a fixed-effects meta-analysis (total N 6,096). Six top SNVs (p<5x10-6) were genotyped in 3,821 additional samples, but associations were not replicated. Furthermore, we meta-analyzed cohort-specific exome array association results of rare SNVs with serum hepcidin that were available for two of the three cohorts (total N 3,226), but no exome-wide significant signal (p<1.4x10-6) was identified. Gene-based meta-analyses revealed 19 genes that showed significant association with hepcidin. Our results suggest the absence of common SNVs and rare exonic SNVs explaining a large proportion of phenotypic variation in serum hepcidin. We recommend extension of our study once additional substantial cohorts with hepcidin measurements, GWAS and/or exome array data become available in order to increase power to identify variants that explain a smaller proportion of hepcidin variation. In addition, we encourage follow-up of the potentially interesting genes that resulted from the gene-based analysis of low-frequency and rare variants.
Published: 2016

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

Author: Galesloot, T.E., Verweij, N., Traglia, M., Barbieri, C., Dijk, F. van, Geurts-Moespot, A.J., Girelli, D., Kiemeney, L.A.L.M., Sweep, C.G.J., Swertz, M.A., Meer, P. van der, Camaschella, C., Toniolo, D., Vermeulen, S.H., Harst, P. van der, Swinkels, D.W., Galesloot, T.E., Verweij, N., Traglia, M., Barbieri, C., Dijk, F. van, Geurts-Moespot, A.J., Girelli, D., Kiemeney, L.A.L.M., Sweep, C.G.J., Swertz, M.A., Meer, P. van der, Camaschella, C., Toniolo, D., Vermeulen, S.H., Harst, P. van der, and Swinkels, D.W.
Abstract: Contains fulltext : 170964.pdf (publisher's version ) (Open Access), Serum hepcidin concentration is regulated by iron status, inflammation, erythropoiesis and numerous other factors, but underlying processes are incompletely understood. We studied the association of common and rare single nucleotide variants (SNVs) with serum hepcidin in one Italian study and two large Dutch population-based studies. We genotyped common SNVs with genome-wide association study (GWAS) arrays and subsequently performed imputation using the 1000 Genomes reference panel. Cohort-specific GWAS were performed for log-transformed serum hepcidin, adjusted for age and gender, and results were combined in a fixed-effects meta-analysis (total N 6,096). Six top SNVs (p<5x10-6) were genotyped in 3,821 additional samples, but associations were not replicated. Furthermore, we meta-analyzed cohort-specific exome array association results of rare SNVs with serum hepcidin that were available for two of the three cohorts (total N 3,226), but no exome-wide significant signal (p<1.4x10-6) was identified. Gene-based meta-analyses revealed 19 genes that showed significant association with hepcidin. Our results suggest the absence of common SNVs and rare exonic SNVs explaining a large proportion of phenotypic variation in serum hepcidin. We recommend extension of our study once additional substantial cohorts with hepcidin measurements, GWAS and/or exome array data become available in order to increase power to identify variants that explain a smaller proportion of hepcidin variation. In addition, we encourage follow-up of the potentially interesting genes that resulted from the gene-based analysis of low-frequency and rare variants.
Published: 2016

12. The european hematology association roadmap for european hematology research: A consensus document

Author: Engert, A, Balduini, C, Brand, A, Coiffier, B, Cordonnier, C, Döhner, H, De Wit, T, Eichinger, S, Fibbe, W, Green, T, De Haas, F, Iolascon, A, Jaffredo, T, Rodeghiero, F, Sall Es, G, Schuringa, J, André, M, Andre Schmutz, I, Bacigalupo, A, Bochud, P, Den Boer, M, Bonini, C, Camaschella, C, Cant, A, Cappellini, M, Cazzola, M, Celso, C, Dimopoulos, M, Douay, L, Dzierzak, E, Einsele, H, Ferreri, A, De Franceschi, L, Gaulard, P, Gottgens, B, Greinacher, A, Gresele, P, Gribben, J, De Haan, G, Hansen, J, Hochhaus, A, Kadir, R, Kaveri, S, Kouskoff, V, Kühne, T, Kyrle, P, Ljungman, P, Maschmeyer, G, Méndez Ferrer, S, Milsom, M, Mummery, C, Ossenkoppele, G, Pecci, A, Peyvandi, F, Philipsen, S, Reitsma, P, Ribera, J, Risitano, A, Rivella, S, Ruf, W, Schroeder, T, Scully, M, Socie, G, Staal, F, Stanworth, S, Stauder, R, Stilgenbauer, S, Tamary, H, Theilgaard Mönch, K, Thein, S, Tilly, H, Trneny, M, Vainchenker, W, Vannucchi, A, Viscoli, C, Vrielink, H, Zaaijer, H, Zanella, A, Zolla, L, Zwaginga, J, Martinez, P, Van Den Akker, E, Allard, S, Anagnou, N, Andolfo, I, Andrau, J, Angelucci, E, Anstee, D, Aurer, I, Avet Loiseau, H, Aydinok, Y, Bakchoul, T, Balduini, A, Barcellini, W, Baruch, D, Baruchel, A, Bayry, J, Bento, C, Van Den Berg, A, Bernardi, R, Bianchi, P, Bigas, A, Biondi, A, Bohonek, M, Bonnet, D, Borchmann, P, Borregaard, N, Brækkan, S, Van Den Brink, M, Brodin, E, Bullinger, L, Buske, C, Butzeck, B, Cammenga, J, Campo, E, Carbone, A, Cervantes, F, Cesaro, S, Charbord, P, Claas, F, Cohen, H, Conard, J, Coppo, P, Vives Corron, J, Da Costa, L, Davi, F, Delwel, R, Dianzani, I, Domanović, D, Donnelly, P, Drnovšek, T, Dreyling, M, Du, M, Dufour, C, Durand, C, Efremov, D, Eleftheriou, A, Elion, J, Emonts, M, Engelhardt, M, Ezine, S, Falkenburg, F, Favier, R, Federico, M, Fenaux, P, Fitzgibbon, J, Flygare, J, Foà, R, Forrester, L, Galacteros, F, Garagiola, I, Gardiner, C, Garraud, O, Van Geet, C, Geiger, H, Geissler, J, Germing, U, Ghevaert, C, Girelli, D, Godeau, B, Gökbuget, N, Goldschmidt, H, Goodeve, A, Graf, T, Graziadei, G, Griesshammer, M, Gruel, Y, Guilhot, F, Von Gunten, S, Gyssens, I, Halter, J, Harrison, C, Harteveld, C, Hellström Lindberg, E, Hermine, O, Higgs, D, Hillmen, P, Hirsch, H, Hoskin, P, Huls, G, Inati, A, Johnson, P, Kattamis, A, Kiefel, V, Kleanthous, M, Klump, H, Krause, D, Hovinga, J, Lacaud, G, Lacroix Desmazes, S, Landman Parker, J, Legouill, S, Lenz, G, Von Lilienfeld Toal, M, Von Lindern, M, Lopez Guillermo, A, Lopriore, E, Lozano, M, Macintyre, E, Makris, M, Mannhalter, C, Martens, J, Mathas, S, Matzdorff, A, Medvinsky, A, Menendez, P, Migliaccio, A, Miharada, K, Mikulska, M, Minard, V, Montalbán, C, De Montalembert, M, Montserrat, E, Morange, P, Mountford, J, Muckenthaler, M, Müller Tidow, C, Mumford, A, Nadel, B, Navarro, J, El Nemer, W, Noizat Pirenne, F, O’Mahony, B, Oldenburg, J, Olsson, M, Oostendorp, R, Palumbo, A, Passamonti, F, Patient, R, De Latour, R, Pflumio, F, Pierelli, L, Piga, A, Pollard, D, Raaijmakers, M, Radford, J, Rambach, R, Koneti Rao, A, Raslova, H, Rebulla, P, Rees, D, Ribrag, V, Rijneveld, A, Rinalducci, S, Robak, T, Roberts, I, Rodrigues, C, Rosendaal, F, Rosenwald, A, Rule, S, Russo, R, Saglio, G, Sanchez, M, Scharf, R, Schlenke, P, Semple, J, Sierra, J, So Osman, C, Soria, J, Stamatopoulos, K, Stegmayr, B, Stunnenberg, H, Swinkels, D, Barata, J, Taghon, T, Taher, A, Terpos, E, Thachil, J, Tissot, J, Touw, I, Toye, A, Trappe, R, Traverse Glehen, A, Unal, S, Vaulont, S, Viprakasit, V, Vitolo, U, Van Wijk, R, Wójtowicz, A, Zeerleder, S, Zieger, B, Zieger, B., ZANELLA, ALBERTO, BIONDI, ANDREA, Engert, A, Balduini, C, Brand, A, Coiffier, B, Cordonnier, C, Döhner, H, De Wit, T, Eichinger, S, Fibbe, W, Green, T, De Haas, F, Iolascon, A, Jaffredo, T, Rodeghiero, F, Sall Es, G, Schuringa, J, André, M, Andre Schmutz, I, Bacigalupo, A, Bochud, P, Den Boer, M, Bonini, C, Camaschella, C, Cant, A, Cappellini, M, Cazzola, M, Celso, C, Dimopoulos, M, Douay, L, Dzierzak, E, Einsele, H, Ferreri, A, De Franceschi, L, Gaulard, P, Gottgens, B, Greinacher, A, Gresele, P, Gribben, J, De Haan, G, Hansen, J, Hochhaus, A, Kadir, R, Kaveri, S, Kouskoff, V, Kühne, T, Kyrle, P, Ljungman, P, Maschmeyer, G, Méndez Ferrer, S, Milsom, M, Mummery, C, Ossenkoppele, G, Pecci, A, Peyvandi, F, Philipsen, S, Reitsma, P, Ribera, J, Risitano, A, Rivella, S, Ruf, W, Schroeder, T, Scully, M, Socie, G, Staal, F, Stanworth, S, Stauder, R, Stilgenbauer, S, Tamary, H, Theilgaard Mönch, K, Thein, S, Tilly, H, Trneny, M, Vainchenker, W, Vannucchi, A, Viscoli, C, Vrielink, H, Zaaijer, H, Zanella, A, Zolla, L, Zwaginga, J, Martinez, P, Van Den Akker, E, Allard, S, Anagnou, N, Andolfo, I, Andrau, J, Angelucci, E, Anstee, D, Aurer, I, Avet Loiseau, H, Aydinok, Y, Bakchoul, T, Balduini, A, Barcellini, W, Baruch, D, Baruchel, A, Bayry, J, Bento, C, Van Den Berg, A, Bernardi, R, Bianchi, P, Bigas, A, Biondi, A, Bohonek, M, Bonnet, D, Borchmann, P, Borregaard, N, Brækkan, S, Van Den Brink, M, Brodin, E, Bullinger, L, Buske, C, Butzeck, B, Cammenga, J, Campo, E, Carbone, A, Cervantes, F, Cesaro, S, Charbord, P, Claas, F, Cohen, H, Conard, J, Coppo, P, Vives Corron, J, Da Costa, L, Davi, F, Delwel, R, Dianzani, I, Domanović, D, Donnelly, P, Drnovšek, T, Dreyling, M, Du, M, Dufour, C, Durand, C, Efremov, D, Eleftheriou, A, Elion, J, Emonts, M, Engelhardt, M, Ezine, S, Falkenburg, F, Favier, R, Federico, M, Fenaux, P, Fitzgibbon, J, Flygare, J, Foà, R, Forrester, L, Galacteros, F, Garagiola, I, Gardiner, C, Garraud, O, Van Geet, C, Geiger, H, Geissler, J, Germing, U, Ghevaert, C, Girelli, D, Godeau, B, Gökbuget, N, Goldschmidt, H, Goodeve, A, Graf, T, Graziadei, G, Griesshammer, M, Gruel, Y, Guilhot, F, Von Gunten, S, Gyssens, I, Halter, J, Harrison, C, Harteveld, C, Hellström Lindberg, E, Hermine, O, Higgs, D, Hillmen, P, Hirsch, H, Hoskin, P, Huls, G, Inati, A, Johnson, P, Kattamis, A, Kiefel, V, Kleanthous, M, Klump, H, Krause, D, Hovinga, J, Lacaud, G, Lacroix Desmazes, S, Landman Parker, J, Legouill, S, Lenz, G, Von Lilienfeld Toal, M, Von Lindern, M, Lopez Guillermo, A, Lopriore, E, Lozano, M, Macintyre, E, Makris, M, Mannhalter, C, Martens, J, Mathas, S, Matzdorff, A, Medvinsky, A, Menendez, P, Migliaccio, A, Miharada, K, Mikulska, M, Minard, V, Montalbán, C, De Montalembert, M, Montserrat, E, Morange, P, Mountford, J, Muckenthaler, M, Müller Tidow, C, Mumford, A, Nadel, B, Navarro, J, El Nemer, W, Noizat Pirenne, F, O’Mahony, B, Oldenburg, J, Olsson, M, Oostendorp, R, Palumbo, A, Passamonti, F, Patient, R, De Latour, R, Pflumio, F, Pierelli, L, Piga, A, Pollard, D, Raaijmakers, M, Radford, J, Rambach, R, Koneti Rao, A, Raslova, H, Rebulla, P, Rees, D, Ribrag, V, Rijneveld, A, Rinalducci, S, Robak, T, Roberts, I, Rodrigues, C, Rosendaal, F, Rosenwald, A, Rule, S, Russo, R, Saglio, G, Sanchez, M, Scharf, R, Schlenke, P, Semple, J, Sierra, J, So Osman, C, Soria, J, Stamatopoulos, K, Stegmayr, B, Stunnenberg, H, Swinkels, D, Barata, J, Taghon, T, Taher, A, Terpos, E, Thachil, J, Tissot, J, Touw, I, Toye, A, Trappe, R, Traverse Glehen, A, Unal, S, Vaulont, S, Viprakasit, V, Vitolo, U, Van Wijk, R, Wójtowicz, A, Zeerleder, S, Zieger, B, Zieger, B., ZANELLA, ALBERTO, and BIONDI, ANDREA
Abstract: The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at ∈ European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better fu treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap. The EHA Roadmap identifies nine ‘sections’ in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders. The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients.
Published: 2016

13. The European Hematology Association Roadmap for European Hematology Research: a consensus document

Author: Engert, A, Balduini, C, Brand, A, Coiffier, B, Cordonnier, C, Dohner, H, de Wit, TD, Eichinger, S, Fibbe, W, Green, T, de Haas, F, Iolascon, A, Jaffredo, T, Rodeghiero, F, Salles, G, Schuringa, JJ, Andre, M, Andre-Schmutz, I, Bacigalupo, A, Bochud, PY, den Boer, Monique, Bonini, C, Camaschella, C, Cant, A, Cappellini, MD, Cazzola, M, Lo Celso, C, Dimopoulos, M, Douay, L, Dzierzak, Elaine, Einsele, H, Ferreri, A, De Franceschi, L, Gaulard, P, Gottgens, B, Greinacher, A, Gresele, P, Gribben, J, de Haan, G, Hansen, JB, Hochhaus, A, Kadir, R, Kaveri, S, Kouskoff, V, Kuhne, T, Kyrle, P, Ljungman, P, Maschmeyer, G, Mendez-Ferrer, S, Milsom, M, Mummery, C, Ossenkoppele, G, Pecci, A, Peyvandi, F, Philipsen, Sjaak, Reitsma, P, Ribera, JM, Risitano, A, Rivella, S, Ruf, W, Schroeder, T, Scully, M, Socie, G, Staal, F, Stanworth, S, Stauder, R, Stilgenbauer, S, Tamary, H, Theilgaard-Monch, K, Thein, SL, Tilly, H, Trneny, M, Vainchenker, W, Vannucchi, AM, Viscoli, C, Vrielink, H, Zaaijer, H, Zanella, A, Zolla, L, Zwaginga, JJ, Martinez, PA, van den Akker, E, Allard, S, Anagnou, N, Andrau, JC, Angelucci, E, Anstee, D, Aurer, I, Avet-Loiseau, H, Aydinok, Y, Bakchoul, T, Balduini, A, Barcellini, W, Baruch, D, Baruchel, A, Bayry, J, Bento, C, van den Berg, A (Andrea), Bernardi, R, Bianchi, P, Bigas, A, Biondi, A, Bohonek, M, Bonnet, D, Borchmann, P, Borregaard, N, Braekkan, S, ten Brink, M (Mirian), Brodin, E, Bullinger, L, Buske, C, Butzeck, B, Cammenga, J, Campo, E, Carbone, A, Cervantes, F, Cesaro, S, Charbord, P, Claas, F, Cohen, H, Conard, J, Coppo, P, Corrons, JLV, da Costa, L, Davi, F, Delwel, Ruud, Dianzani, I, Domanovic, D, Donnelly, P, Drnovsek, TD, Dreyling, M, Du, MQ, Durand, CML (Charles), Efremov, D, Eleftheriou, A, Elion, J, Emonts, Marieke, Engelhardt, M, Ezine, S, Falkenburg, F, Favier, R, Federico, M, Fenaux, P, Fitzgibbon, J, Flygare, J, Foa, R, Forrester, L, Galacteros, F, Garagiola, I, Gardiner, C, Garraud, O, van Geet, C, Geiger, H, Geissler, J, Germing, U, Ghevaert, C, Girelli, D, Godeau, B, Gokbuget, N, Goldschmidt, H, Goodeve, A, Graf, T, Graziadei, G, Griesshammer, M, Gruel, Y, Guilhot, F, von Gunten, S, Gyssens, I, Halter, J, Harrison, C, Harteveld, C, Hellstrom-Lindberg, E, Hermine, O, Higgs, D, Hillmen, P, Hirsch, H, Hoskin, P, Huls, G, Inati, A, Johnson, P, Kattamis, A, Kiefel, V, Kleanthous, M, Klump, H, Krause, D, Hovinga, JK, Lacaud, G, Lacroix-Desmazes, S, Landman-Parker, J, LeGouill, S, Lenz, G, von Lilienfeld-Toal, M, Lindern, Marieke, Lopez-Guillermo, A, Lopriore, E, Lozano, M, Macintyre, E, Makris, M, Martens, John, Mathas, S, Matzdorff, A, Medvinsky, A, Menendez, P, Migliaccio, AR, Miharada, K, Mikulska, M, Minard, V, Montalban, C, de Montalembert, M, Montserrat, E, Morange, PE, Mountford, J, Muckenthaler, M, Muller-Tidow, C, Mumford, A, Nadel, B, Navarro, JT, el Nemer, W, Noizat-Pirenne, F, O'Mahony, B, Oldenburg, J, Olsson, M, Oostendorp, R, Palumbo, A, Passamonti, F, Patient, R, de Latour, RP, Pflumio, F, Pierelli, L, Piga, A, Pollard, D, Raaijmakers, M, Radford, J, Rambach, R, Rao, AK, Raslova, H, Rebulla, P, Rees, D, Ribrag, V, Rijneveld, Anita, Rinalducci, S, Robak, T, Roberts, I, Rodrigues, C, Rosendaal, F, Rosenwald, A, Rule, S, Russo, R, Saglio, G, Sanchez, M, Scharf, RE, Schlenke, P, Semple, J, Sierra, J, So-Osman, C, Soria, JM, Stamatopoulos, K, Stegmayr, B, Stunnenberg, H, Swinkels, D, Barata, JPT, Taghon, T, Taher, A, Terpos, E, Thachil, J, Tissot, JD, Touw, Ivo, Toye, A, Trappe, R, Traverse-Glehen, A, Unal, S, Vaulont, S, Viprakasit, V, Vitolo, U, van Wijk, R, Wojtowicz, A, Zeerleder, S, Zieger, B, Engert, A, Balduini, C, Brand, A, Coiffier, B, Cordonnier, C, Dohner, H, de Wit, TD, Eichinger, S, Fibbe, W, Green, T, de Haas, F, Iolascon, A, Jaffredo, T, Rodeghiero, F, Salles, G, Schuringa, JJ, Andre, M, Andre-Schmutz, I, Bacigalupo, A, Bochud, PY, den Boer, Monique, Bonini, C, Camaschella, C, Cant, A, Cappellini, MD, Cazzola, M, Lo Celso, C, Dimopoulos, M, Douay, L, Dzierzak, Elaine, Einsele, H, Ferreri, A, De Franceschi, L, Gaulard, P, Gottgens, B, Greinacher, A, Gresele, P, Gribben, J, de Haan, G, Hansen, JB, Hochhaus, A, Kadir, R, Kaveri, S, Kouskoff, V, Kuhne, T, Kyrle, P, Ljungman, P, Maschmeyer, G, Mendez-Ferrer, S, Milsom, M, Mummery, C, Ossenkoppele, G, Pecci, A, Peyvandi, F, Philipsen, Sjaak, Reitsma, P, Ribera, JM, Risitano, A, Rivella, S, Ruf, W, Schroeder, T, Scully, M, Socie, G, Staal, F, Stanworth, S, Stauder, R, Stilgenbauer, S, Tamary, H, Theilgaard-Monch, K, Thein, SL, Tilly, H, Trneny, M, Vainchenker, W, Vannucchi, AM, Viscoli, C, Vrielink, H, Zaaijer, H, Zanella, A, Zolla, L, Zwaginga, JJ, Martinez, PA, van den Akker, E, Allard, S, Anagnou, N, Andrau, JC, Angelucci, E, Anstee, D, Aurer, I, Avet-Loiseau, H, Aydinok, Y, Bakchoul, T, Balduini, A, Barcellini, W, Baruch, D, Baruchel, A, Bayry, J, Bento, C, van den Berg, A (Andrea), Bernardi, R, Bianchi, P, Bigas, A, Biondi, A, Bohonek, M, Bonnet, D, Borchmann, P, Borregaard, N, Braekkan, S, ten Brink, M (Mirian), Brodin, E, Bullinger, L, Buske, C, Butzeck, B, Cammenga, J, Campo, E, Carbone, A, Cervantes, F, Cesaro, S, Charbord, P, Claas, F, Cohen, H, Conard, J, Coppo, P, Corrons, JLV, da Costa, L, Davi, F, Delwel, Ruud, Dianzani, I, Domanovic, D, Donnelly, P, Drnovsek, TD, Dreyling, M, Du, MQ, Durand, CML (Charles), Efremov, D, Eleftheriou, A, Elion, J, Emonts, Marieke, Engelhardt, M, Ezine, S, Falkenburg, F, Favier, R, Federico, M, Fenaux, P, Fitzgibbon, J, Flygare, J, Foa, R, Forrester, L, Galacteros, F, Garagiola, I, Gardiner, C, Garraud, O, van Geet, C, Geiger, H, Geissler, J, Germing, U, Ghevaert, C, Girelli, D, Godeau, B, Gokbuget, N, Goldschmidt, H, Goodeve, A, Graf, T, Graziadei, G, Griesshammer, M, Gruel, Y, Guilhot, F, von Gunten, S, Gyssens, I, Halter, J, Harrison, C, Harteveld, C, Hellstrom-Lindberg, E, Hermine, O, Higgs, D, Hillmen, P, Hirsch, H, Hoskin, P, Huls, G, Inati, A, Johnson, P, Kattamis, A, Kiefel, V, Kleanthous, M, Klump, H, Krause, D, Hovinga, JK, Lacaud, G, Lacroix-Desmazes, S, Landman-Parker, J, LeGouill, S, Lenz, G, von Lilienfeld-Toal, M, Lindern, Marieke, Lopez-Guillermo, A, Lopriore, E, Lozano, M, Macintyre, E, Makris, M, Martens, John, Mathas, S, Matzdorff, A, Medvinsky, A, Menendez, P, Migliaccio, AR, Miharada, K, Mikulska, M, Minard, V, Montalban, C, de Montalembert, M, Montserrat, E, Morange, PE, Mountford, J, Muckenthaler, M, Muller-Tidow, C, Mumford, A, Nadel, B, Navarro, JT, el Nemer, W, Noizat-Pirenne, F, O'Mahony, B, Oldenburg, J, Olsson, M, Oostendorp, R, Palumbo, A, Passamonti, F, Patient, R, de Latour, RP, Pflumio, F, Pierelli, L, Piga, A, Pollard, D, Raaijmakers, M, Radford, J, Rambach, R, Rao, AK, Raslova, H, Rebulla, P, Rees, D, Ribrag, V, Rijneveld, Anita, Rinalducci, S, Robak, T, Roberts, I, Rodrigues, C, Rosendaal, F, Rosenwald, A, Rule, S, Russo, R, Saglio, G, Sanchez, M, Scharf, RE, Schlenke, P, Semple, J, Sierra, J, So-Osman, C, Soria, JM, Stamatopoulos, K, Stegmayr, B, Stunnenberg, H, Swinkels, D, Barata, JPT, Taghon, T, Taher, A, Terpos, E, Thachil, J, Tissot, JD, Touw, Ivo, Toye, A, Trappe, R, Traverse-Glehen, A, Unal, S, Vaulont, S, Viprakasit, V, Vitolo, U, van Wijk, R, Wojtowicz, A, Zeerleder, S, and Zieger, B
Abstract: The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at (sic)23 billion per year, a level of cost that is not matched in current European hematology research funding. In recent decades, hematology research has improved our fundamental understanding of the biology of blood disorders, and has improved diagnostics and treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap. The EHA Roadmap identifies nine 'sections' in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders. The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients.
Published: 2016

14. Blunted hepcidin response to oral iron challenge in HFE-hemochromatosis

Author: Piperno, A, Girelli, D, Nemeth, E, Trombini, P, Bozzini, C, Poggiali, E, Phung, Y, Ganz, T, Camaschella, C, PIPERNO, ALBERTO, Camaschella, C., Piperno, A, Girelli, D, Nemeth, E, Trombini, P, Bozzini, C, Poggiali, E, Phung, Y, Ganz, T, Camaschella, C, PIPERNO, ALBERTO, and Camaschella, C.
Abstract: Inadequate hepcidin synthesis leads to iron overload in HFE-related hemochromatosis. We explored the regulation of hepcidin by iron in 88 hemochromatosis patients (61 C282Y/C282Y, 27 C282Y/H63D) and 23 healthy controls by analyzing urinary hepcidin before and 24 hours after a 65-mg oral iron dose. Thirty-four patients were studied at diagnosis and had iron overload, and 54 patients were iron depleted. At diagnosis, hepcidin values in C282Y homozygotes were similar to controls, whereas values in C282Y/H63D heterozygotes were higher (P=0.02). However, the hepcidin/ferritin ratio was decreased in both homozygotes(P<0.001) and heterozygotes (P =0.017), confirming the inadequate hepcidin production for the iron load with both genotypes. In iron-depleted patients of both genotypes studied at a time remote from phlebotomy, basal hepcidin was still lower than in controls (P < .001 for C282Y/C282Y and P = .002 for heterozygotes).After an iron challenge, mean urinary hepcidin excretion increased in controls (P=0.001) but not patients, irrespective of genotype and iron status. Significant hepcidin increase (>or=10 ng/mg creatinine) was observed in 74% of controls, 15% of homozygotes, and 32% of heterozygotes. The hepcidin response to oral iron is blunted in HFE-related hemochromatosis and not improved after iron depletion. The findings support the involvement of HFE in iron sensing and subsequent regulation of hepcidin.
Published: 2007

15. Blunted hepcidin response to oral iron challenge in HFE-hemochromatosis

Author: Piperno, A, Girelli, D, Nemeth, E, Trombini, P, Bozzini, C, Poggiali, E, Ganz, T, Camaschella, C, PIPERNO, ALBERTO, TROMBINI, PAOLA, Camaschella, C., Piperno, A, Girelli, D, Nemeth, E, Trombini, P, Bozzini, C, Poggiali, E, Ganz, T, Camaschella, C, PIPERNO, ALBERTO, TROMBINI, PAOLA, and Camaschella, C.
Published: 2007

16. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

Author: Lanzara, C, Roetto, A, Daraio, F, Rivard, S, Ficarella, R, Simard, H, Cox, T, Cazzola, M, Piperno, A, Gimenez Roqueplo, A, Grammatico, P, Volinia, S, Gasparini, P, Camaschella, C, Cox, TM, Gimenez Roqueplo, AP, Camaschella, C., PIPERNO, ALBERTO, Lanzara, C, Roetto, A, Daraio, F, Rivard, S, Ficarella, R, Simard, H, Cox, T, Cazzola, M, Piperno, A, Gimenez Roqueplo, A, Grammatico, P, Volinia, S, Gasparini, P, Camaschella, C, Cox, TM, Gimenez Roqueplo, AP, Camaschella, C., and PIPERNO, ALBERTO
Abstract: Juvenile or type 2 hemochromatosis (JH) is transmitted as a recessive trait that leads to severe iron overload and organ damage typically before age 30 years. Linkage to a locus on chromosome 1q has been found in most patients with JH. The recently identified causal gene encodes hemojuvelin, a protein with a proposed crucial role in iron metabolism. A second, rare type of JH, with clinical expression identical to the 1q-linked form, is due to inactivation of hepcidin, the key regulator of iron homeostasis. Here we report the spectrum of mutations of the hemojuvelin gene (HJV) in 34 patients who did not show hepcidin mutations. This represents the largest cohort of patients with JH collected worldwide. We identified 17 different (16 novel) mutations of HJV, both at the homozygous and at the compound heterozygous state. Mutations either generate premature termination codons or were missense substitutions, affecting highly conserved residues, relevant to the protein structure and/or function.
Published: 2004

17. Homozygosity for transferrin receptor-2 y250x mutation induces early iron overload

Author: Piperno, A, Roetto, A, Mariani, R, Pelucchi, S, Corengia, C, Daraio, F, Piga, A, Garozzo, G, Camaschella, C, PIPERNO, ALBERTO, MARIANI, RAFFAELLA, PELUCCHI, SARA, Camaschella, C., Piperno, A, Roetto, A, Mariani, R, Pelucchi, S, Corengia, C, Daraio, F, Piga, A, Garozzo, G, Camaschella, C, PIPERNO, ALBERTO, MARIANI, RAFFAELLA, PELUCCHI, SARA, and Camaschella, C.
Abstract: Two Italian subjects, aged three and sixteen years, presented with early iron overload as shown by increased serum iron indices and hepatic iron concentration. They both carried the Y250X mutation of the TFR2 gene in the homozygous state. We suggest that transferrin receptor-2 is important in maintaining iron balance in the first decades of life.
Published: 2004

18. Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (c70r)

Author: Roetto, A, Daraio, F, Porporato, P, Caruso, R, Cox, T, Cazzola, M, Gasparini, P, Piperno, A, Camaschella, C, Cox, TM, Camaschella, C., PIPERNO, ALBERTO, Roetto, A, Daraio, F, Porporato, P, Caruso, R, Cox, T, Cazzola, M, Gasparini, P, Piperno, A, Camaschella, C, Cox, TM, Camaschella, C., and PIPERNO, ALBERTO
Abstract: Juvenile or type 2 hemochromatosis (JH) is a genetic disease caused by increased intestinal iron absorption that leads to early massive iron overload. The main form of the disease is caused by mutations in a still unknown gene on chromosome 1q. Recently, we recognized a second type of JH with clinical features identical to the 1q-linked form, caused by mutations in the gene encoding hepcidin (HEPC. Hepcidin is a hepatic antimicrobial-like peptide whose role in iron homeostasis was first defined in animal models; deficiency of hepcidin in mice leads to iron overload, whereas its hepatic overexpression in transgenic animals causes iron deficiency. To define the prevalence of HEPC mutations in JH we screened the HEPC gene for mutation in 21 unrelated JH subjects. We identified a new mutation(C70R), which affects 1 of the 8 conserved cysteines that form the disulfide bonds and are critical for the stability of the polypeptide.
Published: 2004

19. Natural history of juvenile haemochromatosis

Author: De Gobbi, M, Roetto, A, Piperno, A, Mariani, R, Alberti, F, Papanikolaou, G, Politou, M, Lockitch, G, Girelli, D, Fargion, S, Cox, T, Gasparini, P, Cazzola, M, Camaschella, C, Camaschella, C., PIPERNO, ALBERTO, MARIANI, RAFFAELLA, De Gobbi, M, Roetto, A, Piperno, A, Mariani, R, Alberti, F, Papanikolaou, G, Politou, M, Lockitch, G, Girelli, D, Fargion, S, Cox, T, Gasparini, P, Cazzola, M, Camaschella, C, Camaschella, C., PIPERNO, ALBERTO, and MARIANI, RAFFAELLA
Abstract: Juvenile haemochromatosis or haemochromatosis type 2 is a rare autosomal recessive disorder which causes iron overload at a young age, affects both sexes equally and is characterized by a prevalence of hypogonadism and cardiopathy. Patients with haemochromatosis type 2 have been reported in different ethnic groups. Linkage to chromosome 1q has been established recently, but the gene remains unknown. We report the analysis of the phenotype of 29 patients from 20 families of different ethnic origin with a juvenile 1q-associated disease. We also compared the clinical expression of 26 juvenile haemochromatosis patients with that of 93 C282Y homozygous males and of 11 subjects with haemochromatosis type 3. Patients with haemochromatosis type 2 were statistically younger at presentation and had a more severe iron burden than C282Y homozygotes and haemochromatosis type 3 patients. They were more frequently affected by cardiopathy, hypogonadism and reduced glucose tolerance. In contrast cirrhosis was not statistically different among the three groups. These data suggest that the rapid iron accumulation in haemochromatosis type 2 causes preferential tissue damage. Our results clarify the natural history of the disease and are compatible with the hypothesis that the HFE2 gene has greater influence on iron absorption than other haemochromatosis-associated genes.
Published: 2002

20. Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype

Author: Ravasi, G, Rausa, M, Pelucchi, S, Arosio, C, Greni, F, Mariani, R, Pelloni, I, Silvestri, L, Pineda, P, Camaschella, C, Piperno, A, RAVASI, GIULIA, RAUSA, MARCO, PELUCCHI, SARA, GRENI, FEDERICO, MARIANI, RAFFAELLA, PIPERNO, ALBERTO, Ravasi, G, Rausa, M, Pelucchi, S, Arosio, C, Greni, F, Mariani, R, Pelloni, I, Silvestri, L, Pineda, P, Camaschella, C, Piperno, A, RAVASI, GIULIA, RAUSA, MARCO, PELUCCHI, SARA, GRENI, FEDERICO, MARIANI, RAFFAELLA, and PIPERNO, ALBERTO
Published: 2015

21. Haemochromatosis in patients with beta-thalassaemia trait

Author: Piperno, A, Mariani, R, Arosio, C, Vergani, A, Bosio, S, Fargion, S, Sampietro, M, Girelli, D, Fraquelli, M, Conte, D, Fiorelli, G, Camaschella, C, PIPERNO, ALBERTO, MARIANI, RAFFAELLA, Camaschella, C., Piperno, A, Mariani, R, Arosio, C, Vergani, A, Bosio, S, Fargion, S, Sampietro, M, Girelli, D, Fraquelli, M, Conte, D, Fiorelli, G, Camaschella, C, PIPERNO, ALBERTO, MARIANI, RAFFAELLA, and Camaschella, C.
Abstract: Severe iron overload has been reported in patients with the beta -thalassaemia trait. Studies performed before the discovery of the haemochromatosis gene (HFE) have yielded conflicting results: some suggest that iron overload might arise from the interaction of the beta -thalassaemia trait with heterozygosity for haemochromatosis, some with homozygosity for haemochromatosis and others that it was unrelated to haemochromatosis. We have studied the clinical phenotype, iron indices and HFE genotypes of 22 unrelated patients with the beta -thalassaemia trait and haemochromatosis, the inheritance of chromosome 6p and 1q haplotypes in families of non-homozygous C282Y probands and serum measures of iron status in relatives heterozygous for C282Y with or without the beta -thalassaemia trait. We demonstrate that the beta -thalassaemia trait aggravates the clinical picture of C282Y homozygotes, favouring higher rates of iron accumulation and the development of severe iron-related complications. We suggest that the coexistence of the beta -thalassaemia trait might also increase the risk of iron overload in patients with HFE genotypes at a mild risk of haemochromatosis. Our findings do not support the hypothesis that the association of the beta -thalassaemia trait with a single C282Y or H63D allele might lead to iron overload and suggest that other non-HFE-related inherited factors are present in haemochromatosis patients with incomplete HFE genotypes.
Published: 2000

22. Heterogeneity of hemochromatosis in Italy

Author: Piperno, A, Sampietro, M, Pietrangelo, A, Arosio, C, Lupica, L, Montosi, G, Vergani, A, Fraquelli, M, Girelli, D, Pasquero, P, Roetto, A, Gasparini, P, Fargion, S, Conte, D, Camaschella, C, Camaschella, C., Piperno, A, Sampietro, M, Pietrangelo, A, Arosio, C, Lupica, L, Montosi, G, Vergani, A, Fraquelli, M, Girelli, D, Pasquero, P, Roetto, A, Gasparini, P, Fargion, S, Conte, D, Camaschella, C, and Camaschella, C.
Abstract: Patients with hemochromatosis show variable phenotype expression. We evaluated the frequency of hemochromatosis gene (HFE) mutations and the contribution of HFE genotype, ancestral haplotype, ethnic background, and additional factors (alcohol intake, hepatitis viruses, and beta-thalassemia trait) to the severity of iron overload in a large series of Italian patients with a hemochromatosis phenotype
Published: 1998

23. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

Author: Carella, M, D'Ambrosio, L, Totaro, A, Grifa, A, Valentino, M, Piperno, A, Girelli, D, Roetto, A, Franco, B, Gasparini, P, Camaschella, C, Camaschella, C., PIPERNO, ALBERTO, Carella, M, D'Ambrosio, L, Totaro, A, Grifa, A, Valentino, M, Piperno, A, Girelli, D, Roetto, A, Franco, B, Gasparini, P, Camaschella, C, Camaschella, C., and PIPERNO, ALBERTO
Abstract: Hemochromatosis (HH) is an inborn error of iron metabolism, frequent among Caucasians, characterized by progressive iron loading that, if untreated, causes high morbidity and death. HLA-H, a putative HH gene, has recently been isolated. The large majority of patients so far studied are homozygous for a single mutation, which results in a cysteine-to-tyrosine substitution at amino acid 282 of the protein. A second, less frequent, variant, His63Asp, has an undefined role in the pathogenesis of the disease. Here we report that the Cys282Tyr change accounts for 69% of HH chromosomes in a series of 75 unrelated Italian patients who fulfilled well-defined criteria for HH diagnosis. Sixty-four percent of patients were Cys282Tyr homozygous, 10% were heterozygous, and 21% carried the normal allele. The same mutation was rare in normal controls. The His63Asp variant was less frequent but had a similar frequency among affected and normal chromosomes. Subjects without two copies of the Cys282Tyr change were both isolated patients and individuals from families with a 6p-linked disease. Mutation analysis of the HLA-H gene, carried out by RNA-SSCP in the latter patients, did not reveal any significant nucleotide abnormality in coding sequences and intron-exon boundaries. The absence of mutations in HLA-H gene was confirmed in three cases by direct sequencing. Major deletions or rearrangements of the gene were excluded by Southern blotting. The existence of patients with clinical and histological features of HH, but without mutations in HLA-H gene, suggests that in Italy the disease is more heterogeneous than reported in northern Europe.
Published: 1997

24. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

Author: Carella, M, D'Ambrosio, L, Totaro, A, Grifa, A, Valentino, M, Piperno, A, Girelli, D, Roetto, A, Franco, B, Gasparini, P, Camaschella, C, Camaschella, C., PIPERNO, ALBERTO, Carella, M, D'Ambrosio, L, Totaro, A, Grifa, A, Valentino, M, Piperno, A, Girelli, D, Roetto, A, Franco, B, Gasparini, P, Camaschella, C, Camaschella, C., and PIPERNO, ALBERTO
Abstract: Hemochromatosis (HH) is an inborn error of iron metabolism, frequent among Caucasians, characterized by progressive iron loading that, if untreated, causes high morbidity and death. HLA-H, a putative HH gene, has recently been isolated. The large majority of patients so far studied are homozygous for a single mutation, which results in a cysteine-to-tyrosine substitution at amino acid 282 of the protein. A second, less frequent, variant, His63Asp, has an undefined role in the pathogenesis of the disease. Here we report that the Cys282Tyr change accounts for 69% of HH chromosomes in a series of 75 unrelated Italian patients who fulfilled well-defined criteria for HH diagnosis. Sixty-four percent of patients were Cys282Tyr homozygous, 10% were heterozygous, and 21% carried the normal allele. The same mutation was rare in normal controls. The His63Asp variant was less frequent but had a similar frequency among affected and normal chromosomes. Subjects without two copies of the Cys282Tyr change were both isolated patients and individuals from families with a 6p-linked disease. Mutation analysis of the HLA-H gene, carried out by RNA-SSCP in the latter patients, did not reveal any significant nucleotide abnormality in coding sequences and intron-exon boundaries. The absence of mutations in HLA-H gene was confirmed in three cases by direct sequencing. Major deletions or rearrangements of the gene were excluded by Southern blotting. The existence of patients with clinical and histological features of HH, but without mutations in HLA-H gene, suggests that in Italy the disease is more heterogeneous than reported in northern Europe.
Published: 1997

25. A recombination event close to HFE gene in Hereditary Hemochromatosis

Author: Roetto, A, Sbaiz, L, Bosio, S, Piperno, A, Fargion, S, Carella, M, Totaro, A, Grifa, A, Gasparini, P, Camaschella, C, Camaschella, C., PIPERNO, ALBERTO, Roetto, A, Sbaiz, L, Bosio, S, Piperno, A, Fargion, S, Carella, M, Totaro, A, Grifa, A, Gasparini, P, Camaschella, C, Camaschella, C., and PIPERNO, ALBERTO
Abstract: A candidate gene for Hereditary Hemochromatosis (HFE) has been recently cloned from a region 4 cM telomeric to HLA-A on the short arm of chromosome 6. This gene, defined HFE, is mutated in a high proportion of HFE patients. Positional cloning of HFE has been difficult, because of the extended region of linkage disequilibrium observed around the gene and of the rarity of recombination events in this DNA area. Here we describe a crossover in an Italian HFE patient which occurred close to the HFE gene in a restricted interval between D6S2221 and D6S2240-D6S2238 markers. The molecular analysis of this event and the segregation of the HFE mutations in the family are consistent with the position of the HFE gene telomeric to D6S2221.
Published: 1997

26. The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients

Author: Piperno, A, Arosio, C, Fargion, S, Roetto, A, Nicoli, C, Girelli, D, Sbaiz, L, Gasparini, P, Boari, G, Sampietro, M, Camaschella, C, PIPERNO, ALBERTO, Camaschella, C., Piperno, A, Arosio, C, Fargion, S, Roetto, A, Nicoli, C, Girelli, D, Sbaiz, L, Gasparini, P, Boari, G, Sampietro, M, Camaschella, C, PIPERNO, ALBERTO, and Camaschella, C.
Abstract: We evaluate the relation between genotype and phenotype in 47 Italian male patients with homozygous genetic hemochromatosis (GH). Phenotype evaluation was based on the ratio of amount of iron removed (IR) by phlebotomy and age (IP/age). Patients were divided in two classes of phenotype expression: class I included 26 patients with less severe iron overload (IR/age ≤0.33) and class II included 21 patients with a more marked one (IR/age >0.33). Genetic variability was assessed by haplotype analysis combining alleles at HLA-B, D6S265, HLA-A, and D6S105 loci. A common ancestral haplotype carrying D6S265-1, HLA-A3, and D6S105-8 alleles was present in 13 of 52 (25%) chromosomes in class I and in 24 of 42 (57%) chromosomes in class II (P = .0027). Homozygotes and heterozygotes for the ancestral haplotype had higher iron indices than patients carrying two haplotypes other than the ancestral one. Seven of the eight patients homozygous for the ancestral haplotype were in class II, heterozygotes were equally distributed between the two classes, whereas 14 of 18 carriers of other haplotype combinations were in class I. Our results suggest that the gene defect linked to the ancestral haplotype is the result of a single, severe mutation. The high variability of phenotype expression in heterozygotes for the ancestral haplotype could be accounted for the contribution of the mutation carried by the second haplotype. Combination of different mutations could be responsible for the variable degrees of iron overload found in patients with GH.
Published: 1996

27. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Author: Benyamin, B., Esko, T., Ried, J.S., Radhakrishnan, A., Vermeulen, S., Traglia, M., Gogele, M., Anderson, D., Broer, L., Podmore, C., Luan, J., Kutalik, Z., Sanna, S., Meer, P. van der, Tanaka, T., Wang, F, Westra, H.J., Franke, L., Mihailov, E., Milani, L., Haldin, J., Winkelmann, J., Meitinger, T., Thiery, J., Peters, A., Waldenberger, M., Rendon, A., Jolley, J., Sambrook, J., Kiemeney, L.A.L.M., Sweep, C.G.J., Sala, C.F., Schwienbacher, C., Pichler, I., Hui, J., Demirkan, A., Isaacs, A., Amin, N., Steri, M., Waeber, G., Verweij, N., Powell, J.E., Nyholt, D.R., Heath, A.C., Madden, P.A.F., Visscher, P.M., Wright, M.J., Montgomery, G.W., Martin, N.G., Hernandez, D., Bandinelli, S., Harst, P. van der, Uda, M., Vollenweider, P., Scott, R.A., Langenberg, C., Wareham, N.J., InterAct, C., Duijn, C. van, Beilby, J., Pramstaller, P.P., Hicks, A.A., Ouwehand, W.H., Oexle, K., Gieger, C., Metspalu, A., Camaschella, C., Toniolo, D., Swinkels, D.W., Whitfield, J.B., Benyamin, B., Esko, T., Ried, J.S., Radhakrishnan, A., Vermeulen, S., Traglia, M., Gogele, M., Anderson, D., Broer, L., Podmore, C., Luan, J., Kutalik, Z., Sanna, S., Meer, P. van der, Tanaka, T., Wang, F, Westra, H.J., Franke, L., Mihailov, E., Milani, L., Haldin, J., Winkelmann, J., Meitinger, T., Thiery, J., Peters, A., Waldenberger, M., Rendon, A., Jolley, J., Sambrook, J., Kiemeney, L.A.L.M., Sweep, C.G.J., Sala, C.F., Schwienbacher, C., Pichler, I., Hui, J., Demirkan, A., Isaacs, A., Amin, N., Steri, M., Waeber, G., Verweij, N., Powell, J.E., Nyholt, D.R., Heath, A.C., Madden, P.A.F., Visscher, P.M., Wright, M.J., Montgomery, G.W., Martin, N.G., Hernandez, D., Bandinelli, S., Harst, P. van der, Uda, M., Vollenweider, P., Scott, R.A., Langenberg, C., Wareham, N.J., InterAct, C., Duijn, C. van, Beilby, J., Pramstaller, P.P., Hicks, A.A., Ouwehand, W.H., Oexle, K., Gieger, C., Metspalu, A., Camaschella, C., Toniolo, D., Swinkels, D.W., and Whitfield, J.B.
Abstract: Contains fulltext : 137523.pdf (publisher's version ) (Open Access), Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find 11 genome-wide-significant (P<5 x 10(-8)) loci, some including known iron-related genes (HFE, SLC40A1, TF, TFR2, TFRC, TMPRSS6) and others novel (ABO, ARNTL, FADS2, NAT2, TEX14). SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. There is substantial overlap between our iron loci and loci affecting erythrocyte and lipid phenotypes. These results will facilitate investigation of the roles of iron in disease.
Published: 2014

28. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Author: Benyamin, B. (Beben), Esko, T. (Tõnu), Ried, J.S. (Janina), Radhakrishnan, A. (Aparna), Vermeulen, S.H.H.M. (Sita), Traglia, M. (Michela), Gögele, M. (Martin), Anderson, D. (Denise), Broer, L. (Linda), Podmore, C. (Clara), Luan, J., Kutalik, Z. (Zoltán), Sanna, S. (Serena), Meer, P. (Peter) van der, Tanaka, T. (Toshiko), Wang, F. (Fudi), Westra, H.J. (Harm-Jan), Franke, L. (Lude), Mihailov, E. (Evelin), Milani, L. (Lili), Häldin, J. (Jonas), Winkelmann, B., Meitinger, T. (Thomas), Thiery, J. (Joachim), Peters, A. (Annette), Waldenberger, M. (Melanie), Rendon, A. (Augusto), Jolley, G.J. (Jason), Sambrook, J.G. (Jennifer), Kiemeney, L.A.L.M. (Bart), Sweep, F.C. (Fred), Sala, C. (Cinzia), Schwienbacher, C. (Christine), Pichler, I. (Irene), Hui, J. (Jennie), Demirkan, A. (Ayşe), Isaacs, A. (Aaron), Amin, N. (Najaf), Steri, M. (Maristella), Waeber, G. (Gérard), Verweij, N. (Niek), Powell, J.E. (Joseph), Dimas, A.S. (Antigone), Heath, A.C. (Andrew), Madden, P.A. (Pamela), Visscher, P.M. (Peter), Wright, M.J. (Margaret), Montgomery, G.W. (Grant), Martin, N.G. (Nicholas), Hernandez, D.G. (Dena), Bandinelli, S. (Stefania), Harst, P. (Pim) van der, Uda, M. (Manuela), Vollenweider, P. (Peter), Scott, R.A. (Robert), Langenberg, C. (Claudia), Wareham, N.J. (Nick), Duijn, C.M. (Cornelia) van, Beilby, J. (John), Pramstaller, P.P. (Peter Paul), Hicks, A.A. (Andrew), Ouwehand, W.H. (Willem), Oexle, K. (Konrad), Gieger, C. (Christian), Metspalu, A. (Andres), Camaschella, C. (Clara), Toniolo, D. (Daniela), Swinkels, D.W. (Dorine), Whitfield, J. (John), Benyamin, B. (Beben), Esko, T. (Tõnu), Ried, J.S. (Janina), Radhakrishnan, A. (Aparna), Vermeulen, S.H.H.M. (Sita), Traglia, M. (Michela), Gögele, M. (Martin), Anderson, D. (Denise), Broer, L. (Linda), Podmore, C. (Clara), Luan, J., Kutalik, Z. (Zoltán), Sanna, S. (Serena), Meer, P. (Peter) van der, Tanaka, T. (Toshiko), Wang, F. (Fudi), Westra, H.J. (Harm-Jan), Franke, L. (Lude), Mihailov, E. (Evelin), Milani, L. (Lili), Häldin, J. (Jonas), Winkelmann, B., Meitinger, T. (Thomas), Thiery, J. (Joachim), Peters, A. (Annette), Waldenberger, M. (Melanie), Rendon, A. (Augusto), Jolley, G.J. (Jason), Sambrook, J.G. (Jennifer), Kiemeney, L.A.L.M. (Bart), Sweep, F.C. (Fred), Sala, C. (Cinzia), Schwienbacher, C. (Christine), Pichler, I. (Irene), Hui, J. (Jennie), Demirkan, A. (Ayşe), Isaacs, A. (Aaron), Amin, N. (Najaf), Steri, M. (Maristella), Waeber, G. (Gérard), Verweij, N. (Niek), Powell, J.E. (Joseph), Dimas, A.S. (Antigone), Heath, A.C. (Andrew), Madden, P.A. (Pamela), Visscher, P.M. (Peter), Wright, M.J. (Margaret), Montgomery, G.W. (Grant), Martin, N.G. (Nicholas), Hernandez, D.G. (Dena), Bandinelli, S. (Stefania), Harst, P. (Pim) van der, Uda, M. (Manuela), Vollenweider, P. (Peter), Scott, R.A. (Robert), Langenberg, C. (Claudia), Wareham, N.J. (Nick), Duijn, C.M. (Cornelia) van, Beilby, J. (John), Pramstaller, P.P. (Peter Paul), Hicks, A.A. (Andrew), Ouwehand, W.H. (Willem), Oexle, K. (Konrad), Gieger, C. (Christian), Metspalu, A. (Andres), Camaschella, C. (Clara), Toniolo, D. (Daniela), Swinkels, D.W. (Dorine), and Whitfield, J. (John)
Abstract: Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find 11 genome-wide-significant (P<5 × 10-8) loci, some including known iron-related genes (HFE, SLC40A1, TF, TFR2, TFRC, TMPRSS6) and others novel (ABO, ARNTL, FADS2, NAT2, TEX14). SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. There is substantial overlap between our iron loci and loci affecting erythrocyte and lipid phenotypes. These results will facilitate investigation of the roles of iron in disease.
Published: 2014
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29. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Author: Benyamin, B., Esko, T., Ried, J.S., Radhakrishnan, A., Vermeulen, S., Traglia, M., Gogele, M., Anderson, D., Broer, L., Podmore, C., Luan, J., Kutalik, Z., Sanna, S., Meer, P. van der, Tanaka, T., Wang, F, Westra, H.J., Franke, L., Mihailov, E., Milani, L., Haldin, J., Winkelmann, J., Meitinger, T., Thiery, J., Peters, A., Waldenberger, M., Rendon, A., Jolley, J., Sambrook, J., Kiemeney, L.A.L.M., Sweep, C.G.J., Sala, C.F., Schwienbacher, C., Pichler, I., Hui, J., Demirkan, A., Isaacs, A., Amin, N., Steri, M., Waeber, G., Verweij, N., Powell, J.E., Nyholt, D.R., Heath, A.C., Madden, P.A.F., Visscher, P.M., Wright, M.J., Montgomery, G.W., Martin, N.G., Hernandez, D., Bandinelli, S., Harst, P. van der, Uda, M., Vollenweider, P., Scott, R.A., Langenberg, C., Wareham, N.J., InterAct, C., Duijn, C. van, Beilby, J., Pramstaller, P.P., Hicks, A.A., Ouwehand, W.H., Oexle, K., Gieger, C., Metspalu, A., Camaschella, C., Toniolo, D., Swinkels, D.W., Whitfield, J.B., Benyamin, B., Esko, T., Ried, J.S., Radhakrishnan, A., Vermeulen, S., Traglia, M., Gogele, M., Anderson, D., Broer, L., Podmore, C., Luan, J., Kutalik, Z., Sanna, S., Meer, P. van der, Tanaka, T., Wang, F, Westra, H.J., Franke, L., Mihailov, E., Milani, L., Haldin, J., Winkelmann, J., Meitinger, T., Thiery, J., Peters, A., Waldenberger, M., Rendon, A., Jolley, J., Sambrook, J., Kiemeney, L.A.L.M., Sweep, C.G.J., Sala, C.F., Schwienbacher, C., Pichler, I., Hui, J., Demirkan, A., Isaacs, A., Amin, N., Steri, M., Waeber, G., Verweij, N., Powell, J.E., Nyholt, D.R., Heath, A.C., Madden, P.A.F., Visscher, P.M., Wright, M.J., Montgomery, G.W., Martin, N.G., Hernandez, D., Bandinelli, S., Harst, P. van der, Uda, M., Vollenweider, P., Scott, R.A., Langenberg, C., Wareham, N.J., InterAct, C., Duijn, C. van, Beilby, J., Pramstaller, P.P., Hicks, A.A., Ouwehand, W.H., Oexle, K., Gieger, C., Metspalu, A., Camaschella, C., Toniolo, D., Swinkels, D.W., and Whitfield, J.B.
Abstract: Contains fulltext : 137523.pdf (publisher's version ) (Open Access), Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find 11 genome-wide-significant (P<5 x 10(-8)) loci, some including known iron-related genes (HFE, SLC40A1, TF, TFR2, TFRC, TMPRSS6) and others novel (ABO, ARNTL, FADS2, NAT2, TEX14). SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. There is substantial overlap between our iron loci and loci affecting erythrocyte and lipid phenotypes. These results will facilitate investigation of the roles of iron in disease.
Published: 2014

30. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Author: Benyamin, B., Esko, T., Ried, J.S., Radhakrishnan, A., Vermeulen, S., Traglia, M., Gogele, M., Anderson, D., Broer, L., Podmore, C., Luan, J., Kutalik, Z., Sanna, S., Meer, P. van der, Tanaka, T., Wang, F, Westra, H.J., Franke, L., Mihailov, E., Milani, L., Haldin, J., Winkelmann, J., Meitinger, T., Thiery, J., Peters, A., Waldenberger, M., Rendon, A., Jolley, J., Sambrook, J., Kiemeney, L.A.L.M., Sweep, C.G.J., Sala, C.F., Schwienbacher, C., Pichler, I., Hui, J., Demirkan, A., Isaacs, A., Amin, N., Steri, M., Waeber, G., Verweij, N., Powell, J.E., Nyholt, D.R., Heath, A.C., Madden, P.A.F., Visscher, P.M., Wright, M.J., Montgomery, G.W., Martin, N.G., Hernandez, D., Bandinelli, S., Harst, P. van der, Uda, M., Vollenweider, P., Scott, R.A., Langenberg, C., Wareham, N.J., InterAct, C., Duijn, C. van, Beilby, J., Pramstaller, P.P., Hicks, A.A., Ouwehand, W.H., Oexle, K., Gieger, C., Metspalu, A., Camaschella, C., Toniolo, D., Swinkels, D.W., Whitfield, J.B., Benyamin, B., Esko, T., Ried, J.S., Radhakrishnan, A., Vermeulen, S., Traglia, M., Gogele, M., Anderson, D., Broer, L., Podmore, C., Luan, J., Kutalik, Z., Sanna, S., Meer, P. van der, Tanaka, T., Wang, F, Westra, H.J., Franke, L., Mihailov, E., Milani, L., Haldin, J., Winkelmann, J., Meitinger, T., Thiery, J., Peters, A., Waldenberger, M., Rendon, A., Jolley, J., Sambrook, J., Kiemeney, L.A.L.M., Sweep, C.G.J., Sala, C.F., Schwienbacher, C., Pichler, I., Hui, J., Demirkan, A., Isaacs, A., Amin, N., Steri, M., Waeber, G., Verweij, N., Powell, J.E., Nyholt, D.R., Heath, A.C., Madden, P.A.F., Visscher, P.M., Wright, M.J., Montgomery, G.W., Martin, N.G., Hernandez, D., Bandinelli, S., Harst, P. van der, Uda, M., Vollenweider, P., Scott, R.A., Langenberg, C., Wareham, N.J., InterAct, C., Duijn, C. van, Beilby, J., Pramstaller, P.P., Hicks, A.A., Ouwehand, W.H., Oexle, K., Gieger, C., Metspalu, A., Camaschella, C., Toniolo, D., Swinkels, D.W., and Whitfield, J.B.
Abstract: Contains fulltext : 137523.pdf (publisher's version ) (Open Access), Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find 11 genome-wide-significant (P<5 x 10(-8)) loci, some including known iron-related genes (HFE, SLC40A1, TF, TFR2, TFRC, TMPRSS6) and others novel (ABO, ARNTL, FADS2, NAT2, TEX14). SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. There is substantial overlap between our iron loci and loci affecting erythrocyte and lipid phenotypes. These results will facilitate investigation of the roles of iron in disease.
Published: 2014

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

Author: Porcu, E., Medici, M., Pistis, G., Volpato, C.B., Wilson, S.G., Cappola, A.R., Bos, S.D., Deelen, J., Heijer, M. den, 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., Bohringer, S., Brown, S.J., Buckley, B.M., Camaschella, C., Craen, A.J. de, Davies, G., Visser, M.C.H. de, Ford, I., Forsen, T., Frayling, T.M., Fugazzola, L., Gogele, M., Hattersley, A.T., Hermus, A.R.M.M., 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., Raikkonen, 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, C.G.J., Usala, G., Klauw, M.M. van der, Heemst, D. van, Mullem, A. van, 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.L.M., 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., Porcu, E., Medici, M., Pistis, G., Volpato, C.B., Wilson, S.G., Cappola, A.R., Bos, S.D., Deelen, J., Heijer, M. den, 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., Bohringer, S., Brown, S.J., Buckley, B.M., Camaschella, C., Craen, A.J. de, Davies, G., Visser, M.C.H. de, Ford, I., Forsen, T., Frayling, T.M., Fugazzola, L., Gogele, M., Hattersley, A.T., Hermus, A.R.M.M., 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., Raikkonen, 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, C.G.J., Usala, G., Klauw, M.M. van der, Heemst, D. van, Mullem, A. van, 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.L.M., 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., and Naitza, S.
Abstract: Contains fulltext : 118203.pdf (publisher's version ) (Open Access), 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

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

Author: Porcu, E. (Eleonora), Medici, M. (Marco), Pistis, G. (Giorgio), Volpato, C.B., Wilson, S.G. (Scott), Cappola, A.R. (Anne), Bos, S.D. (Steffan), Deelen, J. (Joris), Heijer, M. (Martin) den, Freathy, R.M. (Rachel), Lahti, J. (Jari), Liu, C. (Chunyu), Lopez, L.M. (Lorna), Nolte, I.M. (Ilja), O´Connell, J.R., Tanaka, T. (Toshiko), Trompet, S. (Stella), Arnold, A.M. (Alice), Bandinelli, S. (Stefania), Beekman, M. (Marian), Böhringer, S. (Stefan), Brown, S.J. (Stephen), Buckley, B.M. (Brendan M.), Camaschella, C. (Clara), Craen, A.J. (Anton) de, Davies, G. (Gail), Visser, M.C.H. (Marieke) de, Ford, I. (Ian), Forsen, T. (Tom), Frayling, T.M. (Timothy), Fugazzola, L. (Laura), Gögele, M. (Martin), Hattersley, A.T. (Andrew), Hermus, A.R.M.M. (Ad), Hofman, A. (Albert), Houwing-Duistermaat, J.J. (Jeanine), Jensen, R.A. (Richard), Kajantie, E. (Eero), Kloppenburg, M. (Margreet), Lim, E.M. (Ee Mun), Masciullo, C. (Corrado), Mariotti, S. (Stefano), Minelli, C. (Cosetta), Mitchell, B.D. (Braxton), Nagaraja, R. (Ramaiah), Netea-Maier, R.T. (Romana), Palotie, A. (Aarno), Persani, L. (Luca), Piras, M.G. (Maria Grazia), Psaty, B.M. (Bruce), Räikkönen, K. (Katri), Richards, J.B. (Brent), Rivadeneira Ramirez, F. (Fernando), Sala, C. (Cinzia), Sabra, M.M. (Mona), Sattar, N. (Naveed), Shields, B.M. (Beverley), Soranzo, N. (Nicole), Starr, J.M. (John), Stott, D.J. (David. J.), Sweep, F.C. (Fred), Usala, G., Klauw, M.M. (Melanie) van der, Heemst, D. (Diana) van, Mol-van Mullem, A.A.A. (Alies) van, Vermeulen, S.H. (Sita), Walsh, J.P. (John), Westendorp, R.G.J. (Rudi), Widen, E. (Elisabeth), Zhai, G. (Guangju), Cucca, F. (Francesco), Deary, I.J. (Ian), Visser, W.E. (Edward), Eriksson, J.G. (Johan), Ferrucci, L. (Luigi), Fox, C. (Craig), Jukema, J.W. (Jan Wouter), Kiemeney, L.A.L.M. (Bart), Pramstaller, P.P. (Peter Paul), Schlessinger, D., Shuldiner, A.R. (Alan), Slagboom, P.E. (Eline), Uitterlinden, A.G. (André), Vaidya, B. (Bijay), Visser, T.J. (Theo), Wolffenbuttel, B.H.R. (Bruce), Meulenbelt, I. (Ingrid), Rotter, J.I. (Jerome), Spector, T.D. (Timothy), Hicks, A.A. (Andrew), Toniolo, D. (Daniela), Sanna, S. (Serena), Peeters, R.P. (Robin), Naitza, S. (Silvia), Porcu, E. (Eleonora), Medici, M. (Marco), Pistis, G. (Giorgio), Volpato, C.B., Wilson, S.G. (Scott), Cappola, A.R. (Anne), Bos, S.D. (Steffan), Deelen, J. (Joris), Heijer, M. (Martin) den, Freathy, R.M. (Rachel), Lahti, J. (Jari), Liu, C. (Chunyu), Lopez, L.M. (Lorna), Nolte, I.M. (Ilja), O´Connell, J.R., Tanaka, T. (Toshiko), Trompet, S. (Stella), Arnold, A.M. (Alice), Bandinelli, S. (Stefania), Beekman, M. (Marian), Böhringer, S. (Stefan), Brown, S.J. (Stephen), Buckley, B.M. (Brendan M.), Camaschella, C. (Clara), Craen, A.J. (Anton) de, Davies, G. (Gail), Visser, M.C.H. (Marieke) de, Ford, I. (Ian), Forsen, T. (Tom), Frayling, T.M. (Timothy), Fugazzola, L. (Laura), Gögele, M. (Martin), Hattersley, A.T. (Andrew), Hermus, A.R.M.M. (Ad), Hofman, A. (Albert), Houwing-Duistermaat, J.J. (Jeanine), Jensen, R.A. (Richard), Kajantie, E. (Eero), Kloppenburg, M. (Margreet), Lim, E.M. (Ee Mun), Masciullo, C. (Corrado), Mariotti, S. (Stefano), Minelli, C. (Cosetta), Mitchell, B.D. (Braxton), Nagaraja, R. (Ramaiah), Netea-Maier, R.T. (Romana), Palotie, A. (Aarno), Persani, L. (Luca), Piras, M.G. (Maria Grazia), Psaty, B.M. (Bruce), Räikkönen, K. (Katri), Richards, J.B. (Brent), Rivadeneira Ramirez, F. (Fernando), Sala, C. (Cinzia), Sabra, M.M. (Mona), Sattar, N. (Naveed), Shields, B.M. (Beverley), Soranzo, N. (Nicole), Starr, J.M. (John), Stott, D.J. (David. J.), Sweep, F.C. (Fred), Usala, G., Klauw, M.M. (Melanie) van der, Heemst, D. (Diana) van, Mol-van Mullem, A.A.A. (Alies) van, Vermeulen, S.H. (Sita), Walsh, J.P. (John), Westendorp, R.G.J. (Rudi), Widen, E. (Elisabeth), Zhai, G. (Guangju), Cucca, F. (Francesco), Deary, I.J. (Ian), Visser, W.E. (Edward), Eriksson, J.G. (Johan), Ferrucci, L. (Luigi), Fox, C. (Craig), Jukema, J.W. (Jan Wouter), Kiemeney, L.A.L.M. (Bart), Pramstaller, P.P. (Peter Paul), Schlessinger, D., Shuldiner, A.R. (Alan), Slagboom, P.E. (Eline), Uitterlinden, A.G. (André), Vaidya, B. (Bijay), Visser, T.J. (Theo), Wolffenbuttel, B.H.R. (Bruce), Meulenbelt, I. (Ingrid), Rotter, J.I. (Jerome), Spector, T.D. (Timothy), Hicks, A.A. (Andrew), Toniolo, D. (Daniela), Sanna, S. (Serena), Peeters, R.P. (Robin), and Naitza, S. (Silvia)
Published: 2013
Full Text: View/download PDF

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

Author: Porcu, E., Medici, M., Pistis, G., Volpato, C.B., Wilson, S.G., Cappola, A.R., Bos, S.D., Deelen, J., Heijer, M. den, 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., Bohringer, S., Brown, S.J., Buckley, B.M., Camaschella, C., Craen, A.J. de, Davies, G., Visser, M.C.H. de, Ford, I., Forsen, T., Frayling, T.M., Fugazzola, L., Gogele, M., Hattersley, A.T., Hermus, A.R.M.M., 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., Raikkonen, 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, C.G.J., Usala, G., Klauw, M.M. van der, Heemst, D. van, Mullem, A. van, 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.L.M., 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., Porcu, E., Medici, M., Pistis, G., Volpato, C.B., Wilson, S.G., Cappola, A.R., Bos, S.D., Deelen, J., Heijer, M. den, 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., Bohringer, S., Brown, S.J., Buckley, B.M., Camaschella, C., Craen, A.J. de, Davies, G., Visser, M.C.H. de, Ford, I., Forsen, T., Frayling, T.M., Fugazzola, L., Gogele, M., Hattersley, A.T., Hermus, A.R.M.M., 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., Raikkonen, 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, C.G.J., Usala, G., Klauw, M.M. van der, Heemst, D. van, Mullem, A. van, 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.L.M., 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., and Naitza, S.
Abstract: Contains fulltext : 118203.pdf (publisher's version ) (Open Access), 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

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

Author: Porcu, E., Medici, M., Pistis, G., Volpato, C.B., Wilson, S.G., Cappola, A.R., Bos, S.D., Deelen, J., Heijer, M. den, 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., Bohringer, S., Brown, S.J., Buckley, B.M., Camaschella, C., Craen, A.J. de, Davies, G., Visser, M.C.H. de, Ford, I., Forsen, T., Frayling, T.M., Fugazzola, L., Gogele, M., Hattersley, A.T., Hermus, A.R.M.M., 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., Raikkonen, 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, C.G.J., Usala, G., Klauw, M.M. van der, Heemst, D. van, Mullem, A. van, 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.L.M., 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., Porcu, E., Medici, M., Pistis, G., Volpato, C.B., Wilson, S.G., Cappola, A.R., Bos, S.D., Deelen, J., Heijer, M. den, 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., Bohringer, S., Brown, S.J., Buckley, B.M., Camaschella, C., Craen, A.J. de, Davies, G., Visser, M.C.H. de, Ford, I., Forsen, T., Frayling, T.M., Fugazzola, L., Gogele, M., Hattersley, A.T., Hermus, A.R.M.M., 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., Raikkonen, 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, C.G.J., Usala, G., Klauw, M.M. van der, Heemst, D. van, Mullem, A. van, 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.L.M., 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., and Naitza, S.
Abstract: Contains fulltext : 118203.pdf (publisher's version ) (Open Access), 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

35. IRON AND HYPOXIA LINK: DOWNREGULATION OF LUCIFERASE ACTIVITY OF HEPCIDIN PROMOTER BY HYPOXIC SERA IN HUH-7 CELLS

Author: Greni, F, Ravasi, G, Pelucchi, S, Silvestri, L, Cappellini, M, Barisani, D, Camaschella, C, Piperno, A, GRENI, FEDERICO, RAVASI, GIULIA, PELUCCHI, SARA, BARISANI, DONATELLA, PIPERNO, ALBERTO, Greni, F, Ravasi, G, Pelucchi, S, Silvestri, L, Cappellini, M, Barisani, D, Camaschella, C, Piperno, A, GRENI, FEDERICO, RAVASI, GIULIA, PELUCCHI, SARA, BARISANI, DONATELLA, and PIPERNO, ALBERTO
Published: 2013

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

Author: Porcu, E, Medici, Marco, Pistis, G, Volpato, CB, Wilson, SG, Cappola, AR, Bos, SD (Steffan Daniel), Deelen, J, Heijer, Mariska, Freathy, RM, Lahti, J, Liu, CY, Lopez, LM, Nolte, IM (Ilja), O'Connell, JR, Tanaka, T, Trompet, S, Arnold, A, Bandinelli, S, Beekman, M, Bohringer, S, Brown, SJ, Buckley, BM, Camaschella, C, de Craen, AJM, Davies, G, de Visser, MCH, Ford, I, Forsen, T, Frayling, TM, Fugazzola, L, Gogele, M, Hattersley, AT, Hermus, AR, Hofman, Bert, Houwing-Duistermaat, JJ, Jensen, RA, Kajantie, E, Kloppenburg, M, Lim, EM, Masciullo, C, Mariotti, S, Minelli, C, Mitchell, BD, Nagaraja, R, Netea-Maier, RT, Palotie, A, Persani, L, Piras, MG, Psaty, BM, Raikkonen, K, Richards, JB, Rivadeneira, Fernando, Sala, C, Sabra, MM, Sattar, N, Shields, BM, Soranzo, N, Starr, JM, Stott, DJ, Sweep, FCGJ, Usala, G, van der Klauw, MM (Melanie), van Heemst, D, Mullem, Alies, Vermeulen, SH, Visser, Edward, Walsh, JP, Westendorp, RGJ, Widen, E, Zhai, GJ, Cucca, F, Deary, IJ, Eriksson, JG, Ferrucci, L, Fox, CS, Jukema, JW, Kiemeney, LA, Pramstaller, PP, Schlessinger, D, Shuldiner, AR, Slagboom, EP, Uitterlinden, André, Vaidya, B, Visser, Theo, Wolffenbuttel, BHR, Meulenbelt, I, Rotter, JI, Spector, TD, Hicks, AA, Toniolo, D, Sanna, S, Peeters, Robin, Naitza, S, Porcu, E, Medici, Marco, Pistis, G, Volpato, CB, Wilson, SG, Cappola, AR, Bos, SD (Steffan Daniel), Deelen, J, Heijer, Mariska, Freathy, RM, Lahti, J, Liu, CY, Lopez, LM, Nolte, IM (Ilja), O'Connell, JR, Tanaka, T, Trompet, S, Arnold, A, Bandinelli, S, Beekman, M, Bohringer, S, Brown, SJ, Buckley, BM, Camaschella, C, de Craen, AJM, Davies, G, de Visser, MCH, Ford, I, Forsen, T, Frayling, TM, Fugazzola, L, Gogele, M, Hattersley, AT, Hermus, AR, Hofman, Bert, Houwing-Duistermaat, JJ, Jensen, RA, Kajantie, E, Kloppenburg, M, Lim, EM, Masciullo, C, Mariotti, S, Minelli, C, Mitchell, BD, Nagaraja, R, Netea-Maier, RT, Palotie, A, Persani, L, Piras, MG, Psaty, BM, Raikkonen, K, Richards, JB, Rivadeneira, Fernando, Sala, C, Sabra, MM, Sattar, N, Shields, BM, Soranzo, N, Starr, JM, Stott, DJ, Sweep, FCGJ, Usala, G, van der Klauw, MM (Melanie), van Heemst, D, Mullem, Alies, Vermeulen, SH, Visser, Edward, Walsh, JP, Westendorp, RGJ, Widen, E, Zhai, GJ, Cucca, F, Deary, IJ, Eriksson, JG, Ferrucci, L, Fox, CS, Jukema, JW, Kiemeney, LA, Pramstaller, PP, Schlessinger, D, Shuldiner, AR, Slagboom, EP, Uitterlinden, André, Vaidya, B, Visser, Theo, Wolffenbuttel, BHR, Meulenbelt, I, Rotter, JI, Spector, TD, Hicks, AA, Toniolo, D, Sanna, S, Peeters, Robin, and Naitza, S
Published: 2013

37. A time course of hepcidin response to oral iron challenge in hfe and tfr2 hemochromatosis patients

Author: Trombini, P, Busti, F, Campostrini, N, Sandri, M, Pelucchi, S, Nemeth, E, Ganz, F, Camaschella, C, Girelli, D, Piperno, A, TROMBINI, PAOLA, PELUCCHI, SARA, GANZ, FEDERICA, PIPERNO, ALBERTO, Trombini, P, Busti, F, Campostrini, N, Sandri, M, Pelucchi, S, Nemeth, E, Ganz, F, Camaschella, C, Girelli, D, Piperno, A, TROMBINI, PAOLA, PELUCCHI, SARA, GANZ, FEDERICA, and PIPERNO, ALBERTO
Published: 2010

38. Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis

Author: Bozzini, C, Campostrini, N, Trombini, P, Nemeth, E, Castagna, A, Tenuti, I, Corrocher, R, Camaschella, C, Ganz, T, Olivieri, O, Piperno, A, Girelli, D, Girelli, D., PIPERNO, ALBERTO, Bozzini, C, Campostrini, N, Trombini, P, Nemeth, E, Castagna, A, Tenuti, I, Corrocher, R, Camaschella, C, Ganz, T, Olivieri, O, Piperno, A, Girelli, D, Girelli, D., and PIPERNO, ALBERTO
Abstract: INTRODUCTION: Insufficient production of hepcidin, the master regulator of iron metabolism, is recognized as the key pathogenetic feature of HFE-related hereditary hemochromatosis (HH). There is a growing interest in measuring the hepcidin levels, which may improve the diagnosis, prognostic evaluation and clinical management of HH. Nevertheless, few investigative tools are available: an immunodot method for urinary hepcidin developed by a single centre (UCLA), not yet ready for large-scale diffusion, and mass spectrometry (MS) based assays, such as surface-enhanced laser desorption/ionization time-of-flight(SELDI-TOF-MS). The latter is well suited to small peptides like hepcidin, and can rapidly analyze crude samples with high throughput. This study measured urinary hepcidin levels by SELDI-TOF-MS in a large group of HH patients at diagnosis and during treatment, including both C282Y homozygous and C282Y/H63D compound heterozygotes. METHODS: We used a protocol based on PBSIIc mass spectrometer and Normal Phase chips. Urinary samples from 30 control subjects were compared to those obtained from 80 HH patients (57 C282Y homozygotes, 23 C282Y/H63D compound heterozygotes). Eighteen C282Y homozygotes and 11 C282Y/H63D compound heterozygotes were analyzed at diagnosis, the remainder during maintenance phlebotomy. RESULTS: C282Y homozygotes either at diagnosis, or after phlebotomy had significantly lower urinary hepcidin levels than controls(P<0.05). C282Y/H63D compound heterozygotes had hepcidin levels at diagnosis higher than controls, while the hepcidin/ferritin ratio was significantly decreased (P<0.001) suggesting inadequate hepcidin production. After phlebotomy, mean hepcidin levels in the compound heterozygotes were significantly lower than in controls (P<0.001). Samples from 12 randomly selected control subjects were sent to UCLA for duplicate measurement by the immunodot method, yielding a significant correlation (rho=0.64; P=0.024). CONCLUSIONS: This study suppor
Published: 2008

39. Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis

Author: Bozzini, C, Campostrini, N, Trombini, P, Nemeth, E, Castagna, A, Tenuti, I, Corrocher, R, Camaschella, C, Ganz, T, Olivieri, O, Piperno, A, Girelli, D, Girelli, D., TROMBINI, PAOLA, PIPERNO, ALBERTO, Bozzini, C, Campostrini, N, Trombini, P, Nemeth, E, Castagna, A, Tenuti, I, Corrocher, R, Camaschella, C, Ganz, T, Olivieri, O, Piperno, A, Girelli, D, Girelli, D., TROMBINI, PAOLA, and PIPERNO, ALBERTO
Published: 2007

40. Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis

Author: Girelli, D, Bozzini, C, Nemeth, E, Castagna, A, Campostrini, N, Bossi, A, Corrocher, R, Camaschella, C, Piperno, A, Ganz, T, Olivieri, O, Olivieri, O., PIPERNO, ALBERTO, Girelli, D, Bozzini, C, Nemeth, E, Castagna, A, Campostrini, N, Bossi, A, Corrocher, R, Camaschella, C, Piperno, A, Ganz, T, Olivieri, O, Olivieri, O., and PIPERNO, ALBERTO
Published: 2007

41. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome

Author: Girelli, D, Bozzini, C, Zecchina, G, Tinazzi, E, Bosio, S, Piperno, A, Ramenghi, U, Peters, J, Levi, S, Camaschella, C, Corrocher, R, Corrocher, R., PIPERNO, ALBERTO, Girelli, D, Bozzini, C, Zecchina, G, Tinazzi, E, Bosio, S, Piperno, A, Ramenghi, U, Peters, J, Levi, S, Camaschella, C, Corrocher, R, Corrocher, R., and PIPERNO, ALBERTO
Abstract: Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease caused by mutations in the iron responsive element (IRE) of the l-ferritin gene. Despite the elucidation of the genetic basis, the overall clinical spectrum of HHCS has been less well studied as, to date, only individual case reports have been described. Therefore, we studied a total of 62 patients in 14 unrelated families, with nine different mutations. No relevant symptoms other than visual impairment were found to be associated with the syndrome. A marked phenotypic variability was observed, particularly with regard to ocular involvement (i.e. age range at which cataract was diagnosed in 16 subjects with the C39T: 6-40 years). Similarly, serum ferritin levels varied substantially also within subjects sharing the same mutation (i.e. range for the A40G: 700-2412 microg/l). We followed an HHCS newborn in whom well-defined lens opacities were not detectable either at birth or at 1 year. The lens ferritin content was analysed in two subjects who underwent cataract surgery at different ages, with different cataract morphology. Values were similar and about 1500-fold higher than in controls. These observations suggest that: (i) in HHCS the cataract is not necessarily congenital; (ii) in addition to the IRE genotype, other genetic or environmental factors may modulate the phenotype, especially the severity of the cataract.
Published: 2001

42. Diagnosis and management of haemochromatosis since the discovery of the HFE gene: A European experience

Author: Robson, K.J.H., Merryweather-Clarke, A.T., Pointon, J.J., Shearman, J.D., Halsall, D.J., Kelly, A., Cox, T.M., Rosenberg, W.M.C., Howell, M., Eccles, D., Patch, C., Fowler, A.V., Wallace, D.F., Camaschella, C., Roetto, A., Zecchina, G., De Gobbi, M., Gasparini, P., Cadet, E., Vandwalle, J.L., Capron, D., Rochette, J., Borot, N., Demangel, C., Dery, R., Vinel, J.P., Pascal, J.P., Coppin, H., Roth, M.P., Robson, K.J.H., Merryweather-Clarke, A.T., Pointon, J.J., Shearman, J.D., Halsall, D.J., Kelly, A., Cox, T.M., Rosenberg, W.M.C., Howell, M., Eccles, D., Patch, C., Fowler, A.V., Wallace, D.F., Camaschella, C., Roetto, A., Zecchina, G., De Gobbi, M., Gasparini, P., Cadet, E., Vandwalle, J.L., Capron, D., Rochette, J., Borot, N., Demangel, C., Dery, R., Vinel, J.P., Pascal, J.P., Coppin, H., and Roth, M.P.
Abstract: Articles free to read on publisher website Hereditary haemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism common in populations of north-west European ancestry. The term haemochromatosis was first used by von Recklinghausen (1889) to describe his post-mortem findings in patients who had died from ‘bronzed diabetes’. The condition was first suggested to be familial by Sheldon (1935), although it was as late as 1975 before the genetic nature of the condition was proven, when Simon et al (1975 ) demonstrated association with the HLA-A3 allele in the major histocompatibility complex (MHC) on chromosome 6...
Published: 2000

43. Spell-checking our genes: report from the symposium Mutation Detection in Large Genes

Author: Dianzani, I., Cotton, R.G., Camaschella, C., Ponzone, A., Piazza, A., Landegren, U., Dianzani, I., Cotton, R.G., Camaschella, C., Ponzone, A., Piazza, A., and Landegren, U.
Published: 1999

44. Fifth International Mutation Detection Workshop

Author: Dianzani, I., Dianzani, U., Camaschella, C, Ponzone, A., Piazza, A., Cotton, R.G., Dianzani, I., Dianzani, U., Camaschella, C, Ponzone, A., Piazza, A., and Cotton, R.G.
Published: 1999

45. Fifth International Mutation Detection Workshop

Author: Dianzani, I., Dianzani, U., Camaschella, C, Ponzone, A., Piazza, A., Cotton, R.G., Dianzani, I., Dianzani, U., Camaschella, C, Ponzone, A., Piazza, A., and Cotton, R.G.
Published: 1999

46. Inherited HFE-unrelated hemochromatosis in Italian families

Author: Camaschella, C, Fargion, S, Sampietro, M, Roetto, A, Bosio, S, Garozzo, G, Arosio, C, Piperno, A, PIPERNO, ALBERTO, Camaschella, C, Fargion, S, Sampietro, M, Roetto, A, Bosio, S, Garozzo, G, Arosio, C, Piperno, A, and PIPERNO, ALBERTO
Abstract: Hemochromatosis (HH) is usually caused by the homozygous state for C282Y mutation in the HFE gene. A minority of iron loaded patients have no mutations in this gene. An infrequent subset shows an early-onset aggressive disorder, denoted juvenile hemochromatosis (JH), which has no linkage to 6p. In this report we describe six patients from three unrelated Italian families, four men and two women, aged 21 to 44 with the typical hemochromatosis phenotype, who are homozygous for the wild type allele at the HFE gene. In two families the disorder is unlinked to 6p; in one family some features of the juvenile form are seen, but linkage to 6p is not excluded. Our results point to genetic forms of hemochromatosis not associated with HFE and raise the problem of whether non-HFE hemochromatosis in Italy is related to the 'juvenile' form. They also emphasize the importance of phenotypic as well as genetic diagnosis of HH.
Published: 1999

47. Hereditary hemochromatosis: recent advances in molecular genetics and clinical management

Author: Camaschella, C, Piperno, A, PIPERNO, ALBERTO, Camaschella, C, Piperno, A, and PIPERNO, ALBERTO
Abstract: Hereditary hemochromatosis (HC) is an inborn error of iron metabolism leading to increased intestinal iron absorption and progressive iron overload. There have been definite advances in our knowledge of the pathogenesis and management of idiopathic hemochromatosis in recent years, which prompted us to review this subject.
Published: 1997

48. Allelic association of microsatellites of 6p in Italian hemochromatosis patients

Author: Camaschella, C, Roetto, A, Gasparini, P, Piperno, A, Fortina, P, Surrey, S, Rappaport, E, Rappaport, E., PIPERNO, ALBERTO, Camaschella, C, Roetto, A, Gasparini, P, Piperno, A, Fortina, P, Surrey, S, Rappaport, E, Rappaport, E., and PIPERNO, ALBERTO
Abstract: Hemochromatosis (HC) is an inherited disorder of iron metabolism and is frequently seen in Caucasians. The biochemical defect and the responsible gene are unknown, but the HC locus is closely linked to HLA-A on human chromosome 6 in the region 6p21.3. Although extensive studies have been performed in several populations, the precise location of the gene is still undefined. Linkage disequilibrium with HC has been detected for loci that are 3 cM apart: HLA class I and D6S105, which is located on the telomeric side of HLA-A. We have analyzed the inheritance of several multi-allele polymorphisms that map to 6p (D6S265, Y52, HLA-F, D6S306, D6S105, D6S464, D6S299) in 34 Italian HC families and in 17 unrelated patients. Significant association with HC was shown for alleles of multiple markers in the HLA-A region, for the distant marker D6S105, but not for the D6S299 marker at 4 cM from HLA-A on the telomeric side. HC status was unambiguously assigned to 70 affected and 63 unaffected chromosomes from family studies. Thirty five different haplotypes were found in 70 HC chromosomes when considering four markers most tightly associated with the disease. A predominant haplotype comprising alleles 1-3-1-8 (marker order D6S265, HLA-A, Y52, D6S105) accounted for 30% of the HC chromosomes and was absent in normals. A minority of other HC haplotypes could be related to the major haplotype by assuming single crossover events. Results of haplotype studies suggest a founder effect in the Italian population, as previously shown in Australian patients, and a possible common mutation shared with affected individuals of Celtic origin.
Published: 1996

49. Construction of a genetic map telomeric to HAL-A by microsatellite analysis

Author: Camaschella, C, Roetto, A, De Sandre, G, Piperno, A, Totaro, A, Dianzani, I, Gasparini, P, Gasparini, P., PIPERNO, ALBERTO, Camaschella, C, Roetto, A, De Sandre, G, Piperno, A, Totaro, A, Dianzani, I, Gasparini, P, Gasparini, P., and PIPERNO, ALBERTO
Abstract: Allele and genotype frquencies of five microsatellites on the short arm of chromosome 6 have been determined in 158 subjects from 14 large Italian families, using polymerase chain reaction amplification and a non-radioactive method of detection. The markers studied were: D6S89, D6S109, D6S105, pLR12 and HLA-F; their heterozygosity ranged from 0.65 to 0.78. Two point and three point linkage analysis among these markers and HLA-A serological types - available for all the studied samples - allowed construction of a partial genetic map telomeric to HLA-A. Our results may be useful for linkage anlaysis of genetic disorders mapping on this region of 6 p.
Published: 1993

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