24 results on '"Cascino, I."'
Search Results
2. A functional polymorphism of the vasoactive intestinal peptide receptor 1 gene correlates with the presence of HLA-B*2705 in Sardinia
- Author
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Paladini, F, Cocco, E, Cauli, A, Cascino, I, Vacca, A, Belfiore, F, Fiorillo, M T, Mathieu, A, and Sorrentino, R
- Published
- 2008
3. High risk of congenital hypothyroidism in multiple pregnancies
- Author
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Olivieri A., Medda E, De Angelis S, Valensise H, De Felice M, Fazzini C, Cascino I, Cordeddu V, Sorcini M, Stazi M, Altamura R, Angeloni U, Antonozzi I, Baserga M, Berardi R, Bernasconi S, Bona G, Burroni M, Calaciura F, Caldarera R, Cappa M, Casini M, Cavallo L, Cherubini V, Chiumello G, Chiovato L, Cicchetti M, Cicciò M, Coppa G, Coppola A, Corbetta C, Cordova R, Correra A, Costa P, Dammacco F, De Luca F, De Santis C, Di Maio S, Gallicchio G, Gastaldi R, Giovannelli G, Grasso G, Gurrado R, Lasciarrea L, Lelli A, Leonardi D, Liotta A, Loche S, Lorini R, Manente G, Minelli G, Monaco F, Moschini L, Musarò M, Mussa G, Narducci T, Pagliardini S, Palillo L, Parlato G, Pasquini E, Peruzzi L, Piazzi S, Pinchera A, Pizzolante M, Puggioni R, Rizzo A, Saggese G, Sala D, Salerno C, Salti R, Sava L, Scognamiglio D, Stoppioni V, Tatò L, Tonacchera M, Vigneri R, Vignola G, Vigone M, Volta C, Weber G., CACCIARI, EMANUELE, CASSIO, ALESSANDRA, CICOGNANI, ALESSANDRO, Olivieri, A, Medda, E, DE ANGELIS, S, Valensise, H, DE FELICE, Mario, Fazzini, C, Cascino, I, Cordeddu, V, Sorcini, M, Stazi, Ma, Olivieri A, Medda E, De Angelis S, Valensise H, De Felice M, Fazzini C, Cascino I, Cordeddu V, Sorcini M, Stazi M, Altamura R, Angeloni U, Antonozzi I, Baserga M, Berardi R, Bernasconi S, Bona G, Burroni M, Cacciari E, Calaciura F, Caldarera R, Cappa M, Casini M, Cassio A, Cavallo L, Cherubini V, Chiumello G, Chiovato L, Cicchetti M, Cicciò M, Cicognani A, Coppa G, Coppola A, Corbetta C, Cordova R, Correra A, Costa P, Dammacco F, De Luca F, De Santis C, Di Maio S, Gallicchio G, Gastaldi R, Giovannelli G, Grasso G, Gurrado R, Lasciarrea L, Lelli A, Leonardi D, Liotta A, Loche S, Lorini R, Manente G, Minelli G, Monaco F, Moschini L, Musarò M, Mussa G, Narducci T, Pagliardini S, Palillo L, Parlato G, Pasquini E, Peruzzi L, Piazzi S, Pinchera A, Pizzolante M, Puggioni R, Rizzo A, Saggese G, Sala D, Salerno C, Salti R, Sava L, Scognamiglio D, Stoppioni V, Tatò L, Tonacchera M, Vigneri R, Vignola G, Vigone M, Volta C, Weber G, De Angelis, S, De Felice, M, and Weber, Giovanna
- Subjects
Adult ,Male ,Risk ,Heterozygote ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Concordance ,Birth weight ,Clinical Biochemistry ,Population ,Thyroid Gland ,Twins ,Thyrotropin ,Context (language use) ,Biochemistry ,Neonatal Screening ,Endocrinology ,Internal medicine ,medicine ,Birth Weight ,Humans ,Sex Ratio ,education ,Pregnancy ,education.field_of_study ,Singleton ,business.industry ,Incidence (epidemiology) ,Homozygote ,Biochemistry (medical) ,Congenital Hypothyroidism ,Female ,Infant, Newborn ,Italy ,Linear Models ,Pregnancy, Multiple ,Thyroxine ,Infant ,Newborn ,medicine.disease ,CONGENITAL HYPOTHYROIDISM ,Congenital hypothyroidism ,Diabetes and Metabolism ,pregnancy ,business ,Multiple - Abstract
CONTEXT: In Italy, the surveillance of congenital hypothyroidism (CH) is performed by the Italian National Registry of Infants with CH (INRICH). Up to now, about 3600 infants with CH are recorded in the INRICH, and a high number of twins are included. OBJECTIVE: Our objective was to estimate the risk of CH in multiple and single deliveries and to compare neonatal features of CH twins with twins from the general population. DESIGN: The Italian population of CH infants recorded in the INRICH from 1989-2000 was investigated. RESULTS: A more than 3-fold higher frequency of twins was found in the CH population than in the general population, and for the first time, it was possible to estimate the CH incidence in multiple (10.1 in 10,000) and single deliveries (3.2 in 10,000 live births). Significantly higher frequencies of in situ gland as well as lower TSH mean level at screening were found in twin than in singleton CH babies. The concordance rate for permanent CH was very low (4.3%) and due to only three concordant couples. However, a high recurrence risk for CH was estimated in siblings of affected babies recorded in the INRICH, including twins considered as siblings. CONCLUSIONS: The high CH incidence observed in twins is worthy of interest for the high number of induced pregnancies in Italy as well as in other Western countries. Moreover, the low concordance rate for CH among twins together with a high recurrence risk for the disease among siblings indicates that environmental risk factors may act as a trigger on a susceptible genetic background in the etiology of the disease
- Published
- 2007
4. Multiple sclerosis in twins from continental Italy and Sardinia: a nationwide study
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Ristori G, Cannoni S, Stazi MA, Vanacore N, Cotichini R, Alfo M, Pugliatti M, Sotgiu S, Solaro C, Bomprezzi R, Di Giovanni S, Figa` Talamanca L, Nistico L, Fagnani C, Neale MC, Cascino I, Giorgi G, Battaglia MA, Buttinelli C, Tosi R, Salvetti M, M. Melato, R. Dellantonio, L. Sironi, E. Bottacchi, M. Signorino, R. Angeloni, L. Curatola, C. Paci, M. Ragno, G. Sirocchi, AM. Vurchio, E. Duc, D. Spitaleri, M. Trojano, M. Liguori, N. Cimini, G. Moretto, M. Porta, MR Rottoli A. Mamoli, M. Camerlingo, E. Nardozza, T. Sacquegna, S. Stecchi, C. Scandellari, L. Callea, R. Capra, M. Codella, M. G. Marrosu, E. Cocco, A. Spissu, G. Cossu, S. Tronci, A. Di Lauro, E. Lombardi, A. Reggio, F. Patti, P. Valentino, A. Quattrone, D Farina, M. E. Nives, A. Lugaresi, F. Perla, M. G. Rosso, M. R. Tola, E. Granieri, MP Amato L. Massacesi, E. Millefiorini, V. Durastanti, G. L. Mancardi, A. Murialdo, NR. Pizio, P. Bellantonio, R. Fantozzi, R. Totaro, A. Carolei, F. Giramma, A. T. Lazzaro, C. Giraldi, M. Mazzoni, G. Giuliani, E. Pucci, P. Previdi, MC. Fazio, M. Buccafusca, P. Girlanda, C. Messina, G. D’Aleo, C. Milanese, L. Lamantia, D. Caputo, E. Scarpini, R. Clerici, L. Moiola, M. Gironi, E. Merelli, F. Casoni, S. Bonavita, G. Tedeschi, M. Leone, D. Mittino, SB. Murgia, L. Musu, P. Gallo, P. Perini, E. Frasson, G. Salemi, G. Cuccia, E. Montanari, L. Manneschi, D. Saviola, M. Antonelli, V. Cosi, R. Bergamaschi, V. Gallai, D. Murasecco, P. Sarchielli, R. Urcioli, G. Perticoni, G. Meucci, G. Moscato, B. Lucci, E. Covezzi, MG. Coniglio, D. Acquistapace, L. Motti, B. Dossi Curro`, M. Frontoni, C. Mainero, P. Giannetti, I. Pestalozza, S. Di Legge, M. Spadaro, C. Pozzilli, S. Romano, B. Mercuri, C. Scoppetta, C. Gasperini, S. Galgani, MG. Grasso, S. Paolucci, PA. Tonali, A. Leonardi, A. Oneto, G Rosati, M. A. Sotgiu, A. Bertolotto, M. Capobianco, L. Durelli, M. Clerico, L. Sosso, R. Bongioanni, D. Orrico, C. Carbonin, U. Freo. M. Zaffaroni, A. Ghezzi, N. Falcone, Ristori G, Cannoni S, Stazi MA, Vanacore N, Cotichini R, Alfo M, Pugliatti M, Sotgiu S, Solaro C, Bomprezzi R, Di Giovanni S, Figa` Talamanca L, Nistico L, Fagnani C, Neale MC, Cascino I, Giorgi G, Battaglia MA, Buttinelli C, Tosi R, Salvetti M, M. Melato, R. Dellantonio, L.Sironi, E. Bottacchi, M. Signorino, R. Angeloni, L. Curatola, C. Paci, M. Ragno, G. Sirocchi, AM. Vurchio, E. Duc, D. Spitaleri, M. Trojano, M. Liguori, N. Cimini, G. Moretto, M. Porta, MR Rottoli A. Mamoli, M. Camerlingo, E. Nardozza, T. Sacquegna, S. Stecchi, C. Scandellari, L. Callea, R. Capra, M. Codella, M. G. Marrosu, E. Cocco, A. Spissu, G. Cossu, S. Tronci, A. Di Lauro, E. Lombardi, A. Reggio, F. Patti, P. Valentino, A. Quattrone, D Farina, M. E. Nives, A. Lugaresi, F. Perla, M. G. Rosso, M.R. Tola, E. Granieri, MP Amato L. Massacesi, E. Millefiorini, V. Durastanti, G. L. Mancardi, A. Murialdo, NR. Pizio, P. Bellantonio, R. Fantozzi, R. Totaro, A. Carolei, F. Giramma, A. T. Lazzaro, C. Giraldi, M. Mazzoni, G. Giuliani, E. Pucci, P. Previdi, MC. Fazio, M. Buccafusca, P. Girlanda, C. Messina, G. D’Aleo, C. Milanese, L. Lamantia, D. Caputo, E. Scarpini, R. Clerici, L. Moiola, M. Gironi, E. Merelli, F. Casoni, S. Bonavita, G. Tedeschi, M. Leone, D. Mittino, SB. Murgia, L. Musu, P. Gallo, P. Perini, E. Frasson, G. Salemi, G. Cuccia, E. Montanari, L. Manneschi, D. Saviola, M. Antonelli, V. Cosi, R. Bergamaschi, V. Gallai, D. Murasecco, P. Sarchielli, R. Urcioli, G. Perticoni, G. Meucci, G. Moscato, B. Lucci, E. Covezzi, MG. Coniglio, D. Acquistapace, L. Motti, B. Dossi Curro`, M. Frontoni, C. Mainero, P. Giannetti, I. Pestalozza, S. Di Legge, M. Spadaro, C. Pozzilli, S. Romano, B. Mercuri, C. Scoppetta, C. Gasperini, S. Galgani, MG. Grasso, S. Paolucci, PA. Tonali, A. Leonardi, A. Oneto, and G Rosati, M. A. Sotgiu, A. Bertolotto, M. Capobianco, L. Durelli, M. Clerico, L. Sosso, R. Bongioanni, D. Orrico, C. Carbonin, U. Freo. M. Zaffaroni, A. Ghezzi, N. Falcone
- Subjects
Male ,Questionnaires ,Multiple Sclerosis ,Concordance ,Population ,Twins ,Dizygotic twins ,Disease cause ,Multiple Sclerosis, Epidemiology, Twins ,Cohort Studies ,Cohort Studies, Disease Susceptibility, Female, Genetic Predisposition to Disease, Humans, Italy ,epidemiology, Male, Multiple Sclerosis ,epidemiology/genetics, Questionnaires, Regression Analysis, Twins ,Surveys and Questionnaires ,medicine ,Humans ,Genetic Predisposition to Disease ,education ,education.field_of_study ,epidemiology/genetics ,business.industry ,Multiple sclerosis ,medicine.disease ,Penetrance ,Twin study ,Confidence interval ,Neurology ,Italy ,Regression Analysis ,Settore MED/26 - Neurologia ,Female ,epidemiology ,Neurology (clinical) ,Disease Susceptibility ,business ,Demography - Abstract
Knowledge about the balance between heritable and nonheritable risk in multiple sclerosis (MS) is based on twin studies in high-prevalence areas. In a study that avoided ascertainment limitations and directly compared continental Italy (medium-prevalence) and Sardinia (high-prevalence), we ascertained 216 pairs from 34,549 patients. This gives a twinning rate of 0.62% among MS patients, significantly less than that of the general population. In continental Italy, probandwise concordance was 14.5% (95% confidence interval, 5.1-23.8) for monozygotic and 4.0% (95% confidence interval, 0.8-7.1) for dizygotic twins. Results in Sardinia resemble those in northern populations but in limited numbers. Monozygotic concordance was 22.2% (95% confidence interval, 0-49.3) probandwise, but no concordant dizygotic pairs were identified. A questionnaire on 80 items possibly related to disease cause was administered to 70 twin pairs, 135 sporadic patients, and 135 healthy volunteers. Variables positively (7) or negatively (2) associated with predisposition and concordance in twins largely overlapped and were mainly linked to infection. If compared with previous studies, our data demonstrate that penetrance in twins appears to correlate with MS prevalence. They highlight the relevance of nonheritable variables in Mediterranean areas. The apparent underrepresentation of MS among Italian twins draws attention to protective factors, shared by twins, that may influence susceptibility.
- Published
- 2006
- Full Text
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5. A differential distribution of a functional polymorphism in the HLA-E gene in Sardinia suggest a possible role of natural Killer function in Ankylosing Spondylitis pathgenesis
- Author
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Paladini, Fabiana, Cascino, I, Cocco, E, Belfiore, F, Cauli, A, Mathieu, A, and Sorrentino, Rosa
- Published
- 2008
6. The distribution of HLA class II susceptible/protective haplotypes could partially explain the low incidence of type 1 diabetes in continental Italy (Lazio region)
- Author
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Petrone, Antonio, Bugawan, Tl, Mesturino, Ca, Nistico, L, Galgani, A, Giorgi, G, Cascino, I, Erlich, Ha, DI MARIO, Umberto, and Buzzetti, Raffaella
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- 2001
7. IL12B and type 1 diabetes in Italian population: a case-control study
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Nistico, L, Giordano, C, Mellai, M, Giorgi, A, Galgani, A, Buzzetti, Raffaella, and Cascino, I.
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- 2001
8. Major role for CTLA-4 gene in DR4-positive type 1 diabetic patients and in DR3 negative graves' disease patients
- Author
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Buzzetti, Raffaella, Petrone, Antonio, Mesturino, A., Giorgi, G., Fiori, R., Nistico, L., Di Genova, G., and Cascino, I.
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- 1999
9. CT60 single nucleotide polymorphisms of the cytotoxic T-lymphocyte-associated antigen-4 gene region is associated with Graves' disease in an Italian population
- Author
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Petrone, A, Giorgi, G., Galgani, A, Alemanno, I, Corsello, Salvatore Maria, Signore, A, Di Mario, U, Nisticò, L, Cascino, I, Buzzetti, R., Corsello, Salvatore Maria (ORCID:0000-0002-4544-7274), Petrone, A, Giorgi, G., Galgani, A, Alemanno, I, Corsello, Salvatore Maria, Signore, A, Di Mario, U, Nisticò, L, Cascino, I, Buzzetti, R., and Corsello, Salvatore Maria (ORCID:0000-0002-4544-7274)
- Abstract
Graves' disease (GD) is an autoimmune and polygenic disorder. Several studies have shown that human leukocyte antigen (HLA) class II and the cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene are involved in the genetic susceptibility. We performed a case control study on 150 patients with GD and 301 controls, matched for age and gender, to verify the association of three polymorphisms located in CTLA-4 region (A49G, [AT](n)-3'UTR, and CT60) and of HLA-DRB1 and DQB1 loci with the disease in an Italian population. The prevalence of patients with GD carrying the G allele of CT60 was significantly higher compared to control subjects (p = 0.02, odds ratio [OR] = 1.82). The allelic frequency of the G allele of CT60 was also significantly higher in patients with GD (p = 0.02). The G allele frequency of A49G in patients was significantly higher compared to control subjects (p = 0.04). The 280 allele phenotype frequency of (AT)(n)-3'UTR was also significantly higher in patients (p = 0.04). The G allele of A49G, the G allele of CT60, and the 280 allele of (AT)(n)-3'UTR microsatellite were significantly increased in patients with GD with thyroid-associated ophthalmopathy (TAO) compared to controls (p = 0.04, p = 0.03, and p = 0.02, respectively), however, we did not find any significant difference between TAO and non-TAO patients. We also found the HLA-DRB1*03 allele to be associated with GD; interestingly, the association of the CTLA-4 markers was independent from the HLA DRB1*03 status. These results highlight the role of the CTLA-4 locus, in addition to HLA, in the susceptibility to GD. Inside the CTLA-4 region, CT60 appears to be the most associated polymorphism to GD, however, further studies are needed to identify the etiologic variant.
- Published
- 2005
10. Probe-less genomic typing of Arg52 (type I diabetes-associated) and non Arg52 (non type I diabetes-associated) HLA-DQA1 alleles
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Sorrentino, Rosa, Costanzi, S, Cascino, I., and Tosi, R.
- Published
- 1992
11. A functional polymorphism of the vasoactive intestinal peptide receptor 1 gene correlates with the presence of HLA-B *2705 in Sardinia.
- Author
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Paladini, F., Cocco, E., Cauli, A., Cascino, I., Vacca, A., Belfiore, F., Fiorillo, M. T., Mathieu, A., and Sorrentino, R.
- Subjects
GENETIC polymorphisms ,PEPTIDES ,ANKYLOSING spondylitis ,MEDICAL genetics - Abstract
The association of HLA-B27 with ankylosing spondylitis (AS) is the strongest among all inflammatory diseases. However, the exact role of these molecules in disease pathogenesis is still unknown. The existence of HLA-B27 variants rarely found in patients introduces a further level of complexity. It is now accepted that other genes of minor impact contribute to modify disease susceptibility and these genes might be diverse in different populations depending on the genetic background. We report here a study performed in Sardinia, an outlier population in which two major HLA-B27 subtypes are present, B
* 2705 strongly associated with AS and B* 2709 which is not, and show the co-occurrence of the B* 2705 allele with a single nucleotide polymorphism (SNP) mapping at 3′-UTR of the receptor 1 (VIPR1) for the vasoactive intestinal peptide (VIP), a neuropeptide with anti-inflammatory properties. This same SNP is associated with a different kinetics of down-modulation of the VIPR1 mRNA in monocytes after exposure to lipopolysaccharide (P=0.004). This particular setting, HLA-B* 2705 and a functional polymorphism in VIPR1 gene, might be due to a founder effect or might be the result of a selective pressure. Irrespectively, the consequent downregulation of this receptor in the presence of a ‘danger’ signal might influence susceptibility to AS.Genes and Immunity (2008) 9, 659–667; doi:10.1038/gene.2008.60; published online 31 July 2008 [ABSTRACT FROM AUTHOR]- Published
- 2008
- Full Text
- View/download PDF
12. RELATIONSHIP BETWEEN DQα AND DQβ RFLP AND CELL SURFACE POLYMORPHISMS OF CLASS II HLA ANTIGENS.
- Author
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Cascino, I., Rosenshine, S., Turco, E., Marrari, M., Duquesnoy, R. J., and Trucco, M.
- Published
- 1986
- Full Text
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13. 35th Annual Meeting of the European Association for the Study of Diabetes
- Author
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Melander, A., Olsson, J., Lindberg, G., Salzman, A., Howard, T., Stang, P., Lydick, E., Emslie-Smith, A., Boyle, D. I. R., Evans, J. M. M., Macdonald, T. M., Bain, J., Sullivan, F., Juhl, C., Pørksen, N., Sturis, J., Hollingdal, M., Pincus, S., Veldhuis, J., Dejgaard, A., Schmitz, O., Kristensen, J. S., Frandsen, K. B., Bayer, Th., Müller, P., Dunning, B. E., Paladini, S., Gutierrez, C., Deacon, R., Valentin, M., Grunberger, G., Weston, W. M., Patwardhan, R., Rappaport, E. B., Sargeant, L. A., Wareham, N. J., Khaw, K. T., Zethelius, Björn, Lithell, Hans, Hales, C. Nicholas, Berne, Christian, Lakka, H.-M., Oksanen, L., Tuomainen, T.-P., Kontula, K., Salonen, J. T., Dekker, J. M., de Boks, P., de Vegt, F., Stehouwer, C. D. A., Nijpels, G., Bouter, L. M., Heine, R. J., Bruno, G., Cavallo-Perin, P., Bargero, G., D’Errico, N., Borra, M., Macchia, G., Pagano, G., Newton, R. W., Ruta, D. A., New, J. P., Wallace, C., Roxburgh, M. A., Young, R. J., Vaughan, N. J. A., Elliott, P., Brennan, G., Devers, M., MacAlpine, R., Steinke, D., Lawson, D. H., Decallonne, B., Casteels, K., Gysemans, C., Bouillon, R., Mathieu, C., Linn, Thomas, Strate, Christine, Schneider, Kerstin, Funda, D. P., Jirsa, M., Kozáková, H., Kaas, A., Kofronová, O., Tlaskalová-Hogenová, H., Buschard, K., Wanka, H., Hartmann, A., Kuttler, B., Rasmussen, S. B., Sørensen, T. S., Markholst, H., Petersen, J. S., Karounos, D., Dyrberg, T., Mabley, J. G., Haskó, G., Szabó, C., Seissler, J., Nguyen, T. B. T., Steinbrenner, H., Scherbaum, W. A., Cipriani, R., Gabriele, A., Sensi, M., Guidobaldi, L., Pantellini, F., Cerrito, M. G., Scarpa, S., Di Mario, U., Morano, S., Ceolotto, G., Iori, E., Baritono, E., Del Prato, S., Semplicini, A., Trevisan, R., Zerbini, G., Meregalli, G., Asnaghi, V., Tentori, F., Maestroni, A., Mangili, R., Marescotti, C., Vedovato, M., Tiengo, A., Tadjieva, J., Mankovsky, B. N., Van Aken, S., Raes, A., Vande Walle, J., Matthys, D., Craen, M., Hansen, H. P., Lund, S. S., Rossing, P., Jensen, T., Parving, H.-H., Andersen, S., Tarnow, L., Hansen, B. V., Trautner, C., Haastert, B., Ennenbach, N., Willich, S., Tabák, Á. Gy., Orchard, T. J., Spranger, J., Preissner, K. T., Schatz, H., Pfeiffer, A., Cantón, A., Burgos, R., Hernández, C., Lecube, A., Mesa, J., Segura, R. M., Mateo, C., Simó, R., Fathallah, L., Greene, D. A., Obrosova, I., Gilbert, R. E., Kelly, D. J., Cox, A. J., Berka-Wilkinson, J. L., Taylor, H. R., Panagiotopoulos, S., Lee, V., Jerums, G., Cooper, M. E., Hitman, G. A., Aganna, E., Ogunkolade, W. B., Rema, M., Deepa, R., Shanthi-Rani, C. S., Barakat, K., Kumarajeewa, T. R., Cassell, P. G., McDermott, M. F., Mohan, V., Ways, K., Bursell, S., Devries, T., Woodworth, J., Alatorre, C., King, G., Aiello, L. P., Karisen, A. E., Pavlovic, D., Nielsen, K., Jensen, J., Andersen, H. U., Pociot, F., Mandrup-Poulsen, T., Eizirik, D. L., Nerup, J., Lortz, S., Tiedge, M., Lenzen, S., Lally, F. J., Bone, A. J., Darville, M. I., Ho, Y.-S., Sternesjö, J., Sandler, S., Chen, M.-C., Schuit, F., Pipeleers, D. G., Merezak, S., Hardikar, A., Hoet, J. J., Remacle, C., Reusens, B., Bréant, B., Garofano, A., Czernichow, P., Kubota, N., Terauchi, Y., Miki, H., Tamemoto, H., Yamauchi, T., Nakano, R., Komeda, K., Eto, K., Tobe, K., Kimura, S., Kadowaki, T., Ide, T., Murakami, K., Tsunoda, M., Mochizuki, T., Ozanne, S. E., Nave, B. T., Wang, C. L., Dorling, M. W., Petry, C. J., Koopmans, S. J., van der Bent, C., Que, I., Radder, J. K., Sebokova, E., Sana, A. K., Klimes, I., Ruderman, N., Morviducci, L., Pastore, L., Morelli, S., Sagratella, E., Zorretta, D., Buongiomo, A., Tamburrano, G., Giaccari, A., Martinenghi, Sabina, De Angelis, Gabriella Cusella, Ravasi, Flavio, Bifari, Francesco, Bordignon, Claudio, Falqui, Luca, Kessler, A., Dransfeld, O., Sasson, S., Tomas, E., Zorzano, A., Eckel, J., Thorsby, P., Rosenfalck, A. M., Kjems, L., Hanssen, K. F., Madsbad, S., Birkeland, K. I., Hamilton-Wessler, M., Markussen, J., Bergman, R. N., Melki, V., Hanaire-Broutin, H., Bessières-Lacombe, S., Tauber, J.-P., Home, P. D., Lindholm, A., Riis, A., Rosenstock, J., Schwartz, S., Clark, C., Edwards, M., Donley, D., Swift, P., Mortensen, H. B., Lynggaard, H., Hougaard, P., Cull, C. A., Neil, H. A. W., Frighi, V., Manley, S. E., Holman, R. R., Turner, R. C., Steiner, G., Davis, W. A., Weeraratna, T., Bruce, D. G., Davis, T. M. E., Vergès, B., Duvillard, L., Pont, F., Florentin, E., Gambert, Ph., Benko, B., Ljubić, S., Turk, Z., Granić, M., März, W., Wollschläger, H., Klein, G., Neiss, A., Wehling, M., Huxtable, S. J., Saker, P. J., Walker, M., Frayling, T. M., Levy, J. C., O’Rahilly, S., Hattersley, A. T., McCarthy, M. I., Orecchio, A., Giacchini, A., Dominici, R., Canettieri, G., Trinti, B., Zani, M., Andreoli, M., Sciacchitano, S., de Silva, A. M., Whitecross, K., Pasco, J., Kotowicz, M., Nicholson, G., Zimmet, P., Boyko, E. J., Collier, G. 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I., Witek, P., Geraldes, Elizabete, Rodrigues, D., Pereira, L., Doménech, A., Leitão, P., Anagnostopoulos, D., Foster, A. V. M., Nag, S., Barsoum, M., Lewis, G., Dunlop, N., Connolly, V., Bilous, R., Kelly, W., Chantelau, E., Gede, A., Sharman, D., O’Halloran, D., Best, C., Abbas, Z. G., Lutale, J., Gill, G. V., Jarvis, W. R., Archibald, L. K., Corcoran, S., Mansell, J., Pibworth, L., Terada, H., Shiba, T., Utugi, N., Utugi, T., Blum, M., Strobel, J., Höffken, K., Razvi, F. M., Kritzinger, E. E., Taylor, K., Jones, S., Illahi, W., Grüβer, M., Hartmann, P., Hoffstadt, K., van Leiden, H. A., Moll, A. C., Polak, B. C. P., Pietragalla, G. B., Maurino, M., Montanaro, M., Karadeniz, Ş., Tommasini, P., Quadrini, C., Demiraj, V., Rispoli, E., Ota, A., Takama, H., Saito, N., Hemández, C., Lepore, D., Antico, L., Giardina, B., Franconi, F., Michoud, E., Chamot, S., Riva, Ch., Hammes, H.-P., Renner, O., Breier, G., Lin, J., Alt, A., Betzholtz, C., Bretzel, R. 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E., Dell’Omo, G., Giovannitti, G., Caricato, F., Mariani, M., Pedrinelli, R., Kiviet-Boehm, C., Schwelling, V., Matthäei, S., Pfohl, M., McInerney, D., Itoh, H., Ohno, T., Katoh, N., Baumgartner-Parzer, S., Artwohl, M., Graier, W., Ludwig, C., Tachi, Y., Bannai, C., Shinohara, M., Shimpuku, H., Ohura, K., Bertacca, A., Sasvári, M., Szaleczki, E., Pusztai, P., Boes, U., Klaus, E., Dittrich, P., Wagner, Z., Wittmann, I., Pótó, L., Wagner, L., Mazák, I., Nagy, J., Feletto, F., Taboga, C., Tonutti, L., Lizzio, S., Russo, A., Selmo, V., Ceriello, A., Lekakis, J., Papamichael, C. M., Stamatelopoulos, K., Stamatelopoulos, S., Yillar, D. O., Gay, M., Lillaz, E., Passaro, A., Vanini, A., Calzoni, F., D’Elia, K., Carantoni, M., Zuliani, G., Fellin, R., Solini, A., Chwatko, G., Bald, E., Dramais, A.-S., Wallemacq, P. E., Vandeleene, B., Ciaria, M. V., Ariano, M., Strom, R., Gibney, J., Weiss, U., Turner, B., O’Gorman, P., Watts, G., Powrie, J., Crook, M., Shaw, K., and Cummings, M.
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- 1999
- Full Text
- View/download PDF
14. HLA-A,B,C and DR antigens in Coeliac Disease. A study in paediatric Italian population
- Author
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Trabace, S, Giunta, A, Rosso, M, Marzorati, D, Cascino, I, Tettamanti, A, Mazzilli, Maria Cristina, and Gandini, E.
- Published
- 1984
15. A cytotoxic anti HLA-AB monoclonal antibody which in dilution becomes specific to HLA-A3 crossreacting group
- Author
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Mazzilli, Maria Cristina, Cascino, I, COSTANZI PORRINI, S, Lavaggi, Mv, Lulli, Patrizia, Testa, L, and Gandini, E.
- Published
- 1984
16. ST1 in two Italian families
- Author
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Trabace, S, Lulli, Patrizia, Cascino, I, Borelli, I, and Mazzilli, Maria Cristina
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- 1980
17. IL12B polymorphism and type 1 diabetes in the Italian population: A case-control study
- Author
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Nisticò, L., Giorgi, G., Giordano, M., Galgani, A., Pétrone, A., D Alfonso, S., MASSIMO FEDERICI, Di Mario, U., Pozzilli, P., Buzzetti, R., and Cascino, I.
- Subjects
onset age ,Adult ,Male ,genetic epidemiology ,Settore MED/09 - Medicina Interna ,genetic association ,Adolescent ,phenotype ,genotype ,gene frequency ,genetic risk ,insulin dependent diabetes mellitus ,Genetic ,Risk Factors ,Diabetes Mellitus ,genetic polymorphism ,Humans ,controlled study ,Genetic Predisposition to Disease ,human ,Polymorphism ,Child ,Polymorphism, Genetic ,interleukin 12 ,allele ,article ,clinical feature ,disease course ,female ,genetic predisposition ,Italy ,major clinical study ,male ,priority journal ,risk assessment ,school child ,Case-Control Studies ,Diabetes Mellitus, Type 1 ,Female ,Gene Frequency ,Haplotypes ,Interleukin-12 ,Settore M-EDF/01 - Metodi e Didattiche delle Attivita' Motorie ,Type 1 - Abstract
A polymorphism in the interleukin 12B gene was recently reported to be strongly associated with type 1 diabetes in 422 Australian and British families. We analyzed the same polymorphism in 470 Italian type 1 diabetic patients and 544 matched control subjects and found no evidence of association with the disease.
18. Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.
- Author
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Teveroni E, Pellegrino M, Sacconi S, Calandra P, Cascino I, Farioli-Vecchioli S, Puma A, Garibaldi M, Morosetti R, Tasca G, Ricci E, Trevisan CP, Galluzzi G, Pontecorvi A, Crescenzi M, Deidda G, and Moretti F
- Subjects
- Cell Differentiation, Cells, Cultured, Estrogen Receptor beta metabolism, Gene Expression, Humans, Muscular Dystrophy, Facioscapulohumeral pathology, Protein Transport, Transcriptional Activation, Estradiol physiology, Estrogens physiology, Homeodomain Proteins metabolism, Muscular Dystrophy, Facioscapulohumeral metabolism, Myoblasts physiology
- Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is characterized by extreme variability in symptoms, with females being less severely affected than males and presenting a higher proportion of asymptomatic carriers. The sex-related factors involved in the disease are not known. Here, we have utilized myoblasts isolated from FSHD patients (FSHD myoblasts) to investigate the effect of estrogens on muscle properties. Our results demonstrated that estrogens counteract the differentiation impairment of FSHD myoblasts without affecting cell proliferation or survival. Estrogen effects are mediated by estrogen receptor β (ERβ), which reduces chromatin occupancy and transcriptional activity of double homeobox 4 (DUX4), a protein whose aberrant expression has been implicated in FSHD pathogenesis. During myoblast differentiation, we observed that the levels and activity of DUX4 increased progressively and were associated with its enhanced recruitment in the nucleus. ERβ interfered with this recruitment by relocalizing DUX4 in the cytoplasm. This work identifies estrogens as a potential disease modifier that underlie sex-related differences in FSHD by protecting against myoblast differentiation impairments in this disease.
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- 2017
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19. Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.
- Author
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Calandra P, Cascino I, Lemmers RJ, Galluzzi G, Teveroni E, Monforte M, Tasca G, Ricci E, Moretti F, van der Maarel SM, and Deidda G
- Subjects
- Epigenomics, Humans, Alleles, Chromosomes, Human, Pair 4, DNA Methylation, Muscle, Skeletal, Muscular Dystrophy, Facioscapulohumeral genetics
- Abstract
Background: Facioscapulohumeral muscular dystrophy (FSHD) is associated with an epigenetic defect on 4qter. Two clinically indistinguishable forms of FSHD are known, FSHD1 and FSHD2. FSHD1 is caused by contraction of the highly polymorphic D4Z4 macrosatellite repeat array on chromosome 4q35. FSHD2 is caused by pathogenic mutations of the SMCHD1 gene.Both genetic defects lead to D4Z4 DNA hypomethylation. In the presence of a polymorphic polyadenylation signal (PAS), DNA hypomethylation leads to inappropriate expression of the D4Z4-encoded DUX4 transcription factor in skeletal muscle. Currently, hypomethylation is not diagnostic per se because of the interference of non-pathogenic arrays and the lack of information about the presence of DUX4-PAS., Methods: We investigated, by bisulfite sequencing, the DNA methylation levels of the region distal to the D4Z4 array selectively in PAS-positive alleles., Results: Comparison of FSHD1, FSHD2 and Control subjects showed a highly significant difference of methylation levels in all CpGs tested. Importantly, using a cohort of 112 samples, one of these CpGs (CpG6) is able to discriminate the affected individuals with a sensitivity of 0.95 supporting this assay potential for FSHD diagnosis. Moreover, our study showed a relationship between PAS-specific methylation and severity of the disease., Conclusions: These data point to the CpGs distal to the D4Z4 array as a critical region reflecting multiple factors affecting the epigenetics of FSHD. Additionally, methylation analysis of this region allows the establishment of a rapid and sensitive tool for FSHD diagnosis., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/)
- Published
- 2016
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20. Gender-dependent association of type 2 diabetes with the vasoactive intestinal peptide receptor 1.
- Author
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Paladini F, Adinolfi V, Cocco E, Ciociola E, Tamburrano G, Cascino I, Lucantoni F, Morano S, and Sorrentino R
- Subjects
- Case-Control Studies, Female, Genotype, Humans, Male, Polymorphism, Single Nucleotide, Signal Transduction genetics, Diabetes Mellitus, Type 2 genetics, Receptors, Vasoactive Intestinal Polypeptide, Type I genetics, Sex Characteristics
- Abstract
Type 2 diabetes is characterized by an inadequate pancreatic beta-cell response to the progressive insulin resistance. Its pathogenesis is complex and has been connected with a state of preclinical chronic inflammation. Vasoactive intestinal peptide (VIP) and its receptors play a relevant role in the homeostasis of insulin secretion as well as in the control of inflammation. In particular, VIP receptor 1 (VPAC1) has been found to be down-modulated during inflammation, and to be associated with several diseases. The objective of this study was to compare the distribution of SNPs mapping in the VIP receptor 1 gene in cases with type 2 diabetes and matched controls. Seven hundred cases with type 2 diabetes (423 males and 277 females) and 830 random controls (419 males and 411 females) were analyzed for the distribution of three common SNPs mapping in the VPAC1 gene. The results show a significantly different genotype distribution of the SNP rs9677 in the 3'-UTR of VPAC1 in female cases with type 2 diabetes compared to gender-matched controls (ptrend=6×10(-4)). The rs9677 CC genotype confers the highest risk (OR: 2.1) and correlates with worse clinical parameters such as higher level of total cholesterol, higher LDL/HDL ratio and a higher HbA1c concentration. The genetic association reported here indicates that VIP/VPAC1 signaling can be a relevant pathway in the pathogenesis of type 2 diabetes in females suggesting that at least some aspects of the genetic predisposition to this disease can be gender-specific., (Copyright © 2011 Elsevier B.V. All rights reserved.)
- Published
- 2012
- Full Text
- View/download PDF
21. HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia.
- Author
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Paladini F, Belfiore F, Cocco E, Carcassi C, Cauli A, Vacca A, Fiorillo MT, Mathieu A, Cascino I, and Sorrentino R
- Subjects
- HLA-B27 Antigen genetics, HLA-C Antigens genetics, Humans, Italy, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, HLA-E Antigens, Genetic Predisposition to Disease genetics, HLA Antigens genetics, Histocompatibility Antigens Class I genetics, Spondylitis, Ankylosing genetics
- Abstract
Introduction: Ankylosing spondylitis (AS) is a severe, chronic inflammatory disease strongly associated with HLA-B27. The presence of additional HLA risk factors has been suggested by several studies. The aim of the current study is to assess the occurrence of an additional HLA susceptibility locus in the region between HLA-E and HLA-C in the Sardinian population., Methods: 200 random controls, 120 patients with AS and 175 HLA-B27 positive controls were genotyped for six single nucleotide polymorphisms (SNPs) spanning the HLA region between HLA-E and HLA-C loci previously shown to harbour an additional susceptibility locus for AS. Allele, genotype and haplotype frequencies were compared., Results: The data confirm our previous finding of a significant increase in patients with AS of allele A at SNP rs1264457 encoding for an Arg at the functional HLA-E polymorphism (Arg128/Gly128). This was due to a remarkable increase in the frequency of genotype A/A in patients vs HLA-B27-matched controls (51% vs 29%; P for trend: 5 x 10-5). Genotype distribution of three other SNPs mapping in genes (GNL1, PRR3 and ABCF-1) close to HLA-E and showing high LD with it, was also significantly skewed. Accordingly, haplotype distribution was also remarkably different. The frequency of the haplotype AAGA, is 42% in random controls, increases to 53% in the HLA-B27-positive controls, and reaches 68% in patients with AS (P values: 2 x 10-11 vs random and 3 x 10-4 vs HLA-B27 controls)., Conclusions: There is a strong association between the presence of a haplotype in genes mapping between HLA-E and HLA-C and AS due to an increase of homozygous markers in patients. The strongest association however, is with the HLA-E functional polymorphism rs1264457. Since HLA-E is the ligand for the NKG2A receptor, these data point to the natural killer (NK) activity as possible player in the pathogenesis of AS.
- Published
- 2009
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22. Identification of previously unrecognized predisposing factors for ankylosing spondylitis from analysis of HLA-B27 extended haplotypes in Sardinia.
- Author
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Cascino I, Paladini F, Belfiore F, Cauli A, Angelini C, Fiorillo MT, Mathieu A, and Sorrentino R
- Subjects
- DNA blood, Gene Frequency, Genetic Markers, HLA Antigens genetics, HLA-B27 Antigen immunology, Haplotypes, Histocompatibility Antigens Class I genetics, Humans, Italy epidemiology, Linkage Disequilibrium genetics, Microsatellite Repeats genetics, Polymorphism, Genetic, Polymorphism, Single Nucleotide genetics, Spondylitis, Ankylosing epidemiology, Spondylitis, Ankylosing immunology, HLA-E Antigens, Genetic Predisposition to Disease, HLA-B27 Antigen genetics, Spondylitis, Ankylosing genetics
- Abstract
Objective: To define the contribution of HLA genes other than HLA-B27 in conferring susceptibility to ankylosing spondylitis (AS), through analysis of HLA-B27 haplotypes in Sardinian subjects., Methods: Ninety-eight patients with AS, 133 HLA-B27-positive controls (of whom 33 were positive for HLA-B*2709), and 190 randomly selected controls were genotyped for microsatellites and single-nucleotide polymorphisms (SNPs) spanning the HLA region., Results: Haplotypes carrying either the B*2705 or the B*2709 allele were found to share a conserved region downstream of the HLA-B gene and a functional polymorphism in the HLA-E gene (R128G), while differing in all other markers. Notably, the presence of an A at SNP rs1264457, encoding for Arg-128, was significantly increased in the cohort of patients (P = 6 x 10(-6), corrected P = 3 x 10(-5)) but not in B*2705- or B*2709-positive controls. Comparing the alleles co-occurring at each HLA marker, we identified a region differentiating patients with AS and B*2705-matched controls. In particular, there was a markedly increased prevalence of heterozygosity at rs1264457 among B27-positive controls (74%, versus 47% in patients and 54% in random controls), suggesting a protective role of G128 in AS. Moreover, other markers around the HLA-B gene were also differentially represented., Conclusion: These results demonstrate a significant difference in the frequency of some HLA markers between AS patients and B*2705-positive controls, which could be attributed to the opposite chromosome. In particular, the differential distribution of a functional polymorphism in the HLA-E gene suggests a possible role of natural killer function in AS pathogenesis.
- Published
- 2007
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23. IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study.
- Author
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Nisticò L, Giorgi G, Giordano M, Galgani A, Petrone A, D'Alfonso S, Federici M, Di Mario U, Pozzilli P, Buzzetti R, and Cascino I
- Subjects
- Adolescent, Adult, Case-Control Studies, Child, Diabetes Mellitus, Type 1 epidemiology, Female, Gene Frequency, Genetic Predisposition to Disease, Haplotypes, Humans, Italy epidemiology, Male, Risk Factors, Diabetes Mellitus, Type 1 genetics, Interleukin-12 genetics, Polymorphism, Genetic
- Abstract
A polymorphism in the interleukin 12B gene was recently reported to be strongly associated with type 1 diabetes in 422 Australian and British families. We analyzed the same polymorphism in 470 Italian type 1 diabetic patients and 544 matched control subjects and found no evidence of association with the disease.
- Published
- 2002
- Full Text
- View/download PDF
24. Fas gene polymorphisms are not associated with systemic lupus erythematosus, multiple sclerosis and HIV infection.
- Author
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Cascino I, Ballerini C, Audino S, Rombolà G, Massacesi L, Colombo G, Scorza Smeraldi R, d'Alfonso S, Momigliano Richiardi P, Tosi R, and Ruberti G
- Subjects
- Case-Control Studies, Genotype, Humans, Polymerase Chain Reaction, HIV Infections genetics, Lupus Erythematosus, Systemic genetics, Multiple Sclerosis genetics, Polymorphism, Genetic, fas Receptor genetics
- Published
- 1998
- Full Text
- View/download PDF
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