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24 results on '"d(')Annunzio, G."'

1. Corrigendum: The silent epidemic of diabetic ketoacidosis at diagnosis of type 1 diabetes in children and adolescents in italy during the covid-19 pandemic in 2020(Front. Endocrinol., (2022), 13, (878634), 10.3389/fendo.2022.878634)

Author

Cherubini, V., Marino, M., Scaramuzza, A. E., Tiberi, V., Bobbio, A., Delvecchio, M., Piccinno, E., Ortolani, F., Innaurato, S., Felappi, B., Gallo, F., Ripoli, C., Ricciardi, M. R., Pascarella, F., Stamati, F. A., Citriniti, F., Arnaldi, C., Monti, S., Graziani, V., De Berardinis, F., Giannini, C., Chiarelli, F., Zampolli, M., De Marco, R., Bracciolini, G. P., Grosso, C., De Donno, V., Piccini, B., Toni, S., Coccioli, S., Cardinale, G., Bassi, M., Minuto, N., D?annunzio, G., Maffeis, C., Marigliano, M., Zanfardino, A., Iafusco, D., Rollato, A. S., Piscopo, A., Curto, S., Lombardo, F., Bombaci, B., Sordelli, S., Mameli, C., Macedoni, M., Rigamonti, A., Bonfanti, R., Frontino, G., Predieri, B., Bruzzi, P., Mozzillo, E., Rosanio, F., Franzese, A., Piredda, G., Cardella, F., Iovane, B., Calcaterra, V., Berioli, M. G., Lasagni, A., Pampanini, V., Patera, P. I., Schiaffini, R., Rutigliano, I., Meloni, G., De Sanctis, L., Tinti, D., Trada, M., Guerraggio, L. P., Franceschi, R., Cauvin, V., Tornese, G., Franco, F., Musolino, G., Maltoni, G., Talarico, V., Iannilli, A., Lenzi, L., Matteoli, M. C., Pozzi, E., Moretti, C., Zucchini, S., Rabbone, I., Gesuita, R., Cherubini, V., Marino, M., Scaramuzza, A. E., Tiberi, V., Bobbio, A., Delvecchio, M., Piccinno, E., Ortolani, F., Innaurato, S., Felappi, B., Gallo, F., Ripoli, C., Ricciardi, M. R., Pascarella, F., Stamati, F. A., Citriniti, F., Arnaldi, C., Monti, S., Graziani, V., De Berardinis, F., Giannini, C., Chiarelli, F., Zampolli, M., De Marco, R., Bracciolini, G. P., Grosso, C., De Donno, V., Piccini, B., Toni, S., Coccioli, S., Cardinale, G., Bassi, M., Minuto, N., D'Annunzio, G., Maffeis, C., Marigliano, M., Zanfardino, A., Iafusco, D., Rollato, A. S., Piscopo, A., Curto, S., Lombardo, F., Bombaci, B., Sordelli, S., Mameli, C., Macedoni, M., Rigamonti, A., Bonfanti, R., Frontino, G., Predieri, B., Bruzzi, P., Mozzillo, E., Rosanio, F., Franzese, A., Piredda, G., Cardella, F., Iovane, B., Calcaterra, V., Berioli, M. G., Lasagni, A., Pampanini, V., Patera, P. I., Schiaffini, R., Rutigliano, I., Meloni, G., De Sanctis, L., Tinti, D., Trada, M., Guerraggio, L. P., Franceschi, R., Cauvin, V., Tornese, G., Franco, F., Musolino, G., Maltoni, G., Talarico, V., Iannilli, A., Lenzi, L., Matteoli, M. C., Pozzi, E., Moretti, C., Zucchini, S., Rabbone, I., and Gesuita, R.

Subjects
socioeconomic status, COVID - 19, type 1 diabetes, DKA, socioeconomic statu, diabetes onset
Abstract

In the published article, there was an error in affiliation(s) 29. Instead of “Departement of Pediatrics, Diabetes Research Institute, IRCCS San Raffaele, Milano, Italy”, it should be “Diabetes Research Institute, IRCCS San Raffaele Hospital, Milan, Italy”. The authors apologize for this error and state that this does not change the scientific conclusions of the article in any way. The original article has been updated.

Published
2022

13. Insulin pump failures in Italian children with Type 1 diabetes: retrospective 1-year cohort study

Author

Rabbone, I., Minuto, N., Bonfanti, R., Marigliano, M., Cerutti, F., Cherubini, V., d(')Annunzio, G., Frongia, A. P., Iafusco, D., Ignaccolo, G., Lombardo, F., Schiaffini, R., Toni, S., Tumini, S., Zucchini, S., Pistorio, A., Scaramuzza, A. E., Scaramuuzza, A. E., Lera, R., Secco, A., Bobbio, A., Bechaz, M., Piccinno, E., Natale, M. P., Ortolani, F., Zecchino, C., Lonero, A., Maltoni, G., Pasquino, B., Gallo, F., Frongia, P., Ripoli, C., Lo Presti, D., Timpanaro, T., Citriniti, F., Suprani, T., Carinci, S., Cipriano, P., Lazzaro, N., De Donno, V., Gallarotti, F., Lenzi, L., Piccini, B., Vittorio, L., Russo, C., Borea, R., Mamm(`i), F., Bruzzese, M., Ventrici, C., Salzano, G., Frontino, G., Bonura, C., Favalli, V., Scaramuzza, A., Zuccotti, G. V., Ferrari, M., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, E., Buono, P., Confetto, S., Zanfardino, A., Cadario, F., Savastio, S., Fiorito, C., Barbieri, P., Piredda, G., Cardella, F., Ropolo, R., Federico, G., Marchi, B., Benevento, D., Carducci, C., Mancabitti, M. L., Delvecchio, M., Lapolla, R., Gaiero, A., Fichera, G., Ignaccolo, M. G., Tinti, D., Cauvin, V., Franceschi, R., Biagioni, M., Salvatoni, A., Scolari, A., Maffeis, C., Sabbion, A., Arnaldi, C., Tosini, D., Rabbone, I, Minuto, N., Bonfanti, R., Marigliano, M., Cerutti, F., Cherubini, V., D'Annunzio, G., Frongia, A. P., Iafusco, Dario, Ignaccolo, G., Lombardo, F., Schiaffini, R., Toni, S., Tumini, S., Zucchini, S., Pistorio, A., Scaramuzza, A. E., Rabbone, I., Iafusco, D., Lera, R., Secco, A., Bobbio, A., Bechaz, M., Piccinno, E., Natale, M. P., Ortolani, F., Zecchino, C., Lonero, A., Maltoni, G., Pasquino, B., Gallo, F., Frongia, P., Ripoli, C., Lo Presti, D., Timpanaro, T., Citriniti, F., Suprani, T., Carinci, S., Cipriano, P., Lazzaro, N., De Donno, V., Gallarotti, F., Lenzi, L., Piccini, B., Vittorio, L., Russo, C., Borea, R., Mammi, F., Bruzzese, M., Ventrici, C., Salzano, G., Frontino, G., Bonura, C., Favalli, V., Scaramuzza, A., Zuccotti, G. V., Ferrari, M., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, E., Buono, P., Confetto, S., Zanfardino, A., Cadario, F., Savastio, S., Fiorito, C., Barbieri, P., Piredda, G., Cardella, F., Ropolo, R., Federico, G., Marchi, B., Benevento, D., Carducci, C., Mancabitti, M. L., Del Vecchio, M., Lapolla, R., Gaiero, A., Fichera, G., Ignaccolo, M. G., Tinti, D., Cauvin, V., Franceschi, R., Biagioni, M., Salvatoni, A., Scolari, A., Maffeis, C., Sabbion, A., Arnaldi, C., Tosini, D., Rabbone, Minuto, Mammì, F., and Mozzillo, Enza.

Subjects
Blood Glucose, Male, Pediatrics, Adolescent, Blood Glucose Self-Monitoring, Child, Child, Preschool, Diabetes Mellitus, Type 1, Equipment Failure, Female, Humans, Infant, Insulin, Italy, Retrospective Studies, Insulin Infusion Systems, type 1 diabetes, medicine.medical_treatment, Endocrinology, Diabetes and Metabolism, Internal Medicine, Endocrinology, 0302 clinical medicine, Retrospective Studie, Medicine, 030212 general & internal medicine, Diabetes, Diabetology, failure, Diabetes and Metabolism, children and adolescents, insulin pump, Cohort study, Type 1, Human, Insulin pump, medicine.medical_specialty, Disease duration, 030209 endocrinology & metabolism, 03 medical and health sciences, Diabetes mellitus, Diabetes Mellitus, Preschool, Type 1 diabetes, business.industry, Diabetes, Type1, Pump, Insulin, Type1, Retrospective cohort study, Pump, medicine.disease, Surgery, Insulin Infusion System, business
Abstract

Aims Insulin pump failure and/or malfunction requiring replacement have not been thoroughly investigated. This study evaluated pump replacement in children and adolescents with Type 1 diabetes using insulin pump therapy. Methods Data were collected for all participants younger than 19 years, starting insulin pump therapy before 31 December 2013. For each child, age, disease duration, date of insulin pump therapy initiation, insulin pump model, failure/malfunction/replacement yes/no and reason were considered for the year 2013. Results Data were returned by 40 of 43 paediatric centres belonging to the Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology. In total, 1574 of 11 311 (13.9%) children and adolescents with Type 1 diabetes were using an insulin pump: 29.2% Animas VIBE™, 9.4% Medtronic MiniMed 715/515™, 34.3% Medtronic MiniMed VEO™, 24.3% Accu-Check Spirit Combo™ and 2.8% other models. In 2013, 0.165 insulin pump replacements per patient-year (11.8% due to pump failure/malfunction and 4.7% due to accidental damage) were recorded. Animas VIBE™ (22.1%) and Medtronic MiniMed VEO™ (17.7%) were the most replaced. Conclusions In a large cohort of Italian children and adolescents with Type 1 diabetes, insulin pump failure/malfunction and consequent replacement are aligned with rates previously reported and higher in more sophisticated pump models. This article is protected by copyright. All rights reserved.

Published
2017

14. Erratum: Organization and regional distribution of centers for the management of children and adolescents with diabetes in Italy (Ital J Pediatr (2015) 41 (74) DOI:10.1186/s13052-015-0179-6)

Author

Giorgetti, C., Ferrito, L., Zallocco, F., Iannilli, A., Cherubini, V., Maghnie, M., Rabbone, I., Lera, R., De Luna, L., Kienberger, B., Gualtieri, A., Zecchino, C., Piccino, E., Ortolani, F., Zucchini, S., Maltoni, G., Pasquino, B., Reinstadler, P., Prandi, E., Zattoni, V., Gallo, F., Morganti, G., Guerraggio, L., Ripoli, C., Frongia, M., Pusceddu, P., La Loggia, A., Scanu, P., Cardinale, G., Ponzi, G., Tomaselli, L. G., Rapisarda, V., Citriniti, F., Soprani, T., Tumini, S., Lazzaro, N., De Donno, V., Banin, P., Toni, S., Lenzi, L., Mainetti, B., Coccioli, M. S., D(')Annunzio, G., Minuto, N., Montani, E., Maccioni, R., Marongiu, U., Beccaria, L., Bruzzese, M., Mamm(`i), F., Pardi, D., Lombardo, F., Ventrici, C., Scaramazza, A., Ferrari, M., Bonfanti, R., Rigamonti, A., Iughetti, L., Predieri, B., Iafusco, D., Confetto, S., Zanfardino, A., Prisco, F., Francese, A., De Nitto, E., Cadario, F., Milia, A., Piredda, G., Mereu, L., Soro, M., Correddu, A., Pipia, A., Monciotti, C., Cardella, F., De Berardinis, F., Santoro, G., Chiari, G., Berioli, M. G., Federico, G., Zanette, G., Marsciani, A., Pedini, A., Patera, I. P., Schiaffini, R., Bitti, M., Lidano, R., Pietrosanti, S., Delvecchio, M., Trada, M., Marinaro, A., Meloni, G., Gaiero, A., Fichera, G., Bulciolu, P., Ignaccolo, G., Cauvin, V., Franceschi, R., Faleschini, E., Tornese, G., Salvatoni, A., Cardani, R., Maffeis, C., Marigliano, M., Sabbion, A., and Arnaldi, C.

Subjects
children, type 1 diabetes, children, adolescents, adolescents
Published
2016

15. High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI

Author

Massa O., Meschi F., Cuesta-Munoz A., Caumo A., Cerutti F., Toni S., Cherubini V., Guazzarotti L., Sulli N., Matschinsky F. M., Lorini R., Iafusco D., Barbetti F., Alibrandi A., Angius E., Bonfanti R., Borboni P., Bernasconi S., Cadario F., Calisti L., Cappa M., Cauvin V., Chiumello G., Cicchetti M., Contreas G., Crino A., D' Annunzio G., Franzese A., Frongia P., Iughetti L., Magro G., Marietti G., Martinucci M., Meossi C., Multari G., Rabbone I., Scaramuzza A., Vanelli M., Vanini R., Visentin A., Vitullo P., Massa, O., Meschi, F., Cuesta-Munoz, A., Caumo, A., Cerutti, F., Toni, S., Cherubini, V., Guazzarotti, L., Sulli, N., Matschinsky, F. M., Lorini, R., Iafusco, D., Barbetti, F., Alibrandi, A., Angius, E., Bonfanti, R., Borboni, P., Bernasconi, S., Cadario, F., Calisti, L., Cappa, M., Cauvin, V., Chiumello, G., Cicchetti, M., Contreas, G., Crino, A., D' Annunzio, G., Franzese, A., Frongia, P., Iughetti, L., Magro, G., Marietti, G., Martinucci, M., Meossi, C., Multari, G., Rabbone, I., Scaramuzza, A., Vanelli, M., Vanini, R., Visentin, A., and Vitullo, P.

Subjects
Blood Glucose, Male, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, MODY 2, insulin secretion, insulin sensitivity, glucokinase, BMI, Italy, Glucokinase, Insulin secretion, Insulin sensitivity, Amino Acid Substitution, Child, Conserved Sequence, Diabetes Mellitus, Diabetes Mellitus, Type 2, Fasting, Female, Glucose Tolerance Test, Humans, Hyperglycemia, Insulin, Insulin Resistance, Insulin Secretion, Mutation, Missense, Obesity, Pedigree, Sensitivity and Specificity, Body Mass Index, Mutation, Settore MED/13 - Endocrinologia, Impaired glucose tolerance, Glucose tolerance test, medicine.diagnostic_test, Type 2, medicine.medical_specialty, Biology, Maturity onset diabetes of the young, Diabetes mellitus, Internal medicine, Internal Medicine, medicine, medicine.disease, Impaired fasting glucose, Endocrinology, Missense
Abstract

Aims/hypothesis. The aim of this study was to assess the prevalence of glucokinase gene mutations in Italian children with MODY and to investigate genotype/phenotype correlations of the mutants. Methods. Screening for sequence variants in the glucokinase gene was performed by denaturing gradient gel electrophoresis and direct sequencing in 132 children with maturity onset diabetes of the young (MODY) and in 9 children with chronic fasting hyperglycaemia but without laboratory evidence for Type I (insulin-dependent) diabetes mellitus and with normoglycaemic parents ("non-classical" MODY). Results. Altogether 54 mutations were identified in the MODY group (54/132 or 41%) and 3 among the "non-classical" MODY individuals (3/9 or 33%). Paternity testing indicated that the latter mutations have arisen de novo. Mean fasting plasma glucose concentrations of the children with the mutant glucokinase was in the expected impaired fasting glucose range. In contrast, results of the oral glucose tolerance test showed a wide range from normal glucose tolerance (Group 1: 2-h OGTT = 6.7 ± 1.1 mmol/l; 11 patients) to diabetes (Group 2: 2-h OGTT = 11.5 ± 0.5 m-mol/l; 9 patients), with the remaining in the impaired glucose tolerance range. Disruptive mutations (i.e. nonsense, frameshifts, splice-site) were equally represented in Groups 1 and 2 and were not clearly associated with an impaired first-phase insulin response. Surprisingly, 5 out of 11 children (or 45 %) in Group 1 were found to be overweight but no children in Group 2 were overweight. Sensitivity index (SI), calculated by a recently described method, was found to be significantly lower in Group 2 than in Group 1 (SI Group 2 = 0.0013 ± 0.0009 ml Kg-1 min-1/μU/ml; SI Group 1 = 0.0068 ± 0.0048, p < 0.0035). Conclusion/interpretation. Mutations in glucokinase are the first cause of MODY among Italian children selected through a low threshold limit of fasting plasma glucose (i. e. > 5.5 mmol). The lack of correlation between the molecular severity of glucokinase mutations, insulin secretion at intravenous glucose tolerance test and differences in glucose tolerance suggests that factors outside the beta cell are also involved in determining post-load glucose concentrations in these subjects. Our results seem to indicate that the differences observed in the 2-h responses at the OGTT among children with MODY 2 could be related to individual differences in insulin sensitivity.

Published
2001

16. The osteopontin gene +1239A/C single nucleotide polymorphism is associated with type 1 diabetes mellitus in the Italian population

Author

Chiocchetti, A., Orilieri, E., Cappellano, G., Barizzone, N., D Alfonso, S., D Annunzio, G., Lorini, R., Ravazzolo, R., Cadario, F., Martinetti, M., Calcaterra, V., Cerutti, F., Graziella BRUNO, Larizza, D., and Dianzani, U.

Subjects
Male, medicine.medical_specialty, Adolescent, Immunology, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, HLA-DQ alpha-Chains, Proinflammatory cytokine, HLA-DQ Antigens, Internal medicine, Diabetes mellitus, medicine, Genetic predisposition, HLA-DQ beta-Chains, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Osteopontin, Child, Pharmacology, Genetics, Type 1 diabetes, biology, business.industry, Multiple sclerosis, medicine.disease, Diabetes Mellitus, Type 1, Endocrinology, biology.protein, Female, Protein Multimerization, business, TCF7L2, Genome-Wide Association Study
Abstract

Secreted phosphoprotein 1, also known as Osteopontin (Opn), is a proinflammatory cytokine involved in the TH1 response and is highly expressed in the islets and pancreatic lymph nodes of non-obese diabetic mice before the onset of diabetes. In humans, typing of the +1239A/C single nucleotide polymorphism (SNP) in the 3'UTR of the Opn gene (SPP1) showed that +1239C carriers displayed higher Opn serum levels than +1239A homozygotes and a higher risk of developing autoimmune/lymphoproliferative syndrome, multiple sclerosis, and systemic lupus erythematosus. The aim of this work is to evaluate whether +1239A/C is also associated with type 1 diabetes mellitus (T1DM). We typed +1239A/C in an initial cohort of 184 T1DM patients and 361 controls, and confirmed our data in a second cohort of 513 patients and 857 controls. In both cohorts, +1239C carriers displayed a significantly higher risk of T1DM than +1239A homozygotes (combined cohorts: OR=1.63, 95%CI: 1.34–1.97). Clinical analysis did not detect any differences between patients carrying or not +1239C in terms of gender distribution and age at T1DM diagnosis. These data suggest that SPP1 variants marked by +1239C are associated with T1DM development in the Italian population. The predisposing effect may depend on its effect on Opn levels.

Published
2010

18. Multi-access services for the management of diabetes mellitus: The M2DM project

Author

Bellazzi, R., Brugues, E., Carson, E., Cobelli, C., Cramp, D., D Annunzio, G., Pasquale De Cata, Leiva, A., Deutsch, T., Fratino, P., Gazzaruso, C., Gergely, T., Gomez, Ej, Harvey, F., Ferrari, P., Friederich, Ch, Hernando, E., Boulos, Mk, Larizza, C., Ludekke, H., Luebker, M., Maran, A., Nucci, G., Garcia, Fo, Pennati, C., Rendschmidt, T., Roudsari, A., Schutte, K., and Stefanelli, M.

Published
2002

22. Geographical variation and rising trend of type 1 diabetes in Italy

Author

Cherubini V, Carle F, Gesuita R, Bruno G, Cotellessa M, Devoti G, Falorni A, Martinucci ME, Pinelli A, Prisco F, Sondini M, Visalli N, RIDI Study Group (P Barbieri, L Carpinelli, A Casu, F Cerutti, GV Coppa, G D'Annunzio, G De Giorgi, M Di Meio, P Frongia, A Gentili, Iafusco D, A Iannilli, R Lorini, G Marietti, AM Marinaro, M Mazzella, A Medici, F Merletti, G Pagano, ML Picchio, P Pozzilli, F Santeusanio, MT Tenconi, S Toni. ), F. Carle, R. Gesuita, G. Bruno, M. Cotellessa, G. Devoti, A. Falorni, M. E. Martinucci, A. Pinelli, F. Prisco, M. Songini, N. Visalli, RIDI Study Group, Barbieri, L Carpinelli, A Casu, F Cerutti, GV Coppa, G D' Annunzio, G De Giorgi, M Di Meio, P Frongia, A Gentili, D Iafusco, A Iannilli, R Lorini, G Marietti, AM Marinaro, M Mazzella, A Medici, F Merletti, G Pagano, ML Picchio, P Pozzilli, F Santeusanio, MT Tenconi, S Toni., Cherubini, V, Carle, F, Gesuita, R, Bruno, G, Cotellessa, M, Devoti, G, Falorni, A, Martinucci, Me, Pinelli, A, Prisco, F, Sondini, M, Visalli, N, RIDI Study Group (P, Barbieri, L, Carpinelli, A, Casu, F, Cerutti, Gv, Coppa, G, D'Annunzio, G De, Giorgi, M Di, Meio, P, Frongia, A, Gentili, Iafusco, D, A, Iannilli, R, Lorini, G, Marietti, Am, Marinaro, M, Mazzella, A, Medici, F, Merletti, G, Pagano, Ml, Picchio, P, Pozzilli, F, Santeusanio, Mt, Tenconi, and S, Toni. ).

Published
2002

23. High frequency of diabetic ketoacidosis at diagnosis of type 1 diabetes in Italian children: a nationwide longitudinal study, 2004-2013.

Author

Cherubini V, Skrami E, Ferrito L, Zucchini S, Scaramuzza A, Bonfanti R, Buono P, Cardella F, Cauvin V, Chiari G, D Annunzio G, Frongia AP, Iafusco D, Patera IP, Toni S, Tumini S, Rabbone I, Lombardo F, Carle F, and Gesuita R

Subjects
Adolescent, Age Factors, Diabetes Mellitus, Type 1 diagnosis, Diabetic Ketoacidosis diagnosis, Female, Humans, Italy epidemiology, Longitudinal Studies, Male, Diabetes Mellitus, Type 1 epidemiology, Diabetic Ketoacidosis epidemiology
Abstract

This longitudinal population-based study analyses the frequency of diabetic ketoacidosis (DKA) at type 1 diabetes diagnosis in Italian children under 15 years of age, during 2004-2013. DKA was defined as absent (pH ≥ 7.30), mild/moderate (7.1 ≤ pH < 7.30) and severe (pH < 7.1). Two multiple logistic regression models were used to evaluate the time trend of DKA frequency considered as present versus absent and severe versus absent, adjusted for gender, age group and geographical area of residence at diagnosis. Overall, 9,040 cases were ascertained. DKA frequency was 40.3% (95%CI: 39.3-41.4%), with 29.1% and 11.2% for mild/moderate and severe DKA, respectively. Severe DKA increased significantly during the period (OR = 1.03, 95%CI: 1.003-1.05). Younger-age children and children living in Southern Italy compared to Central Italy were at significantly higher risk of DKA and severe DKA. Family history of type 1 diabetes and residence in Sardinia compared to Central Italy were significantly associated with a lower probability of DKA and severe DKA. The high frequency of ketoacidosis in Italy over time and high variability among age groups and geographical area of residence, strongly suggests a continuing need for nationwide healthcare strategies to increase awareness of early detection of diabetes.

Published
2016
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24. The osteopontin gene +1239A/C single nucleotide polymorphism is associated with type 1 diabetes mellitus in the Italian population.

Author

Chiocchetti A, Orilieri E, Cappellano G, Barizzone N, D' Alfonso S, D' Annunzio G, Lorini R, Ravazzolo R, Cadario F, Martinetti M, Calcaterra V, Cerutti F, Bruno G, Larizza D, and Dianzani U

Subjects
Adolescent, Child, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, HLA-DQ Antigens chemistry, HLA-DQ Antigens genetics, HLA-DQ alpha-Chains, HLA-DQ beta-Chains, Humans, Male, Protein Multimerization, Diabetes Mellitus, Type 1 genetics, Osteopontin genetics, Polymorphism, Single Nucleotide
Abstract

Secreted phosphoprotein 1, also known as Osteopontin (Opn), is a proinflammatory cytokine involved in the TH1 response and is highly expressed in the islets and pancreatic lymph nodes of non-obese diabetic mice before the onset of diabetes. In humans, typing of the +1239A/C single nucleotide polymorphism (SNP) in the 3UTR of the Opn gene (SPP1) showed that +1239C carriers displayed higher Opn serum levels than +1239A homozygotes and a higher risk of developing autoimmune/lymphoproliferative syndrome, multiple sclerosis, and systemic lupus erythematosus. The aim of this work is to evaluate whether +1239A/C is also associated with type 1 diabetes mellitus (T1DM). We typed +1239A/C in an initial cohort of 184 T1DM patients and 361 controls, and confirmed our data in a second cohort of 513 patients and 857 controls. In both cohorts, +1239C carriers displayed a significantly higher risk of T1DM than +1239A homozygotes (combined cohorts: OR=1.63, 95 percent CI: 1.34-1.97). Clinical analysis did not detect any differences between patients carrying or not +1239C in terms of gender distribution and age at T1DM diagnosis. These data suggest that SPP1 variants marked by +1239C are associated with T1DM development in the Italian population. The predisposing effect may depend on its effect on Opn levels.

Published
2010
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