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3. Design, recruitment, logistics, and data management of the GEHA (Genetics of Healthy Ageing) project

Author

Skytthe, A., Valensin, S., Jeune, B., Cevenini, E., Balard, F., Beekman, M., Bezrukov, V., Blanche, H., Bolund, L., Broczek, K., Carru, C., Christensen, K., Christiansen, L., Collerton, J.C., Cotichini, R., de Craen, A.J.M., Dato, S., Davies, K., De Benedictis, G., Deiana, L., Flachsbart, F., Gampe, J., Gilbault, C., Gonos, E.S., Haimes, E., Hervonen, A., Hurme, M.A., Janiszewska, D., Jylhä, M., Kirkwood, T.B.L., Kristensen, P., Laiho, P., Leon, A., Marchisio, A., Masciulli, R., Nebel, A., Passarino, G., Pelicci, G., Peltonen, L., Perola, M., Poulain, M., Rea, I.M., Remacle, J., Robine, J.M., Schreiber, S., Scurti, M., Sevini, F., Sikora, E., Skouteri, A., Slagboom, P.E., Spazzafumo, L., Stazi, M.A., Toccaceli, V., Toussaint, O., Törnwall, O., Vaupel, J.W., Voutetakis, K., and Franceschi, C.

Published
2011
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6. Concordance, disease progression, and heritability of coeliac disease in Italian twins

Author

Nistico, L., Fagnani, C., Coto, I., Percopo, S., Cotichini, R., Limongelli, M.G., Paparo, F., D'Alfonso, S., Giordano, M., Sferlazzas, C., Magazzu, G., Momigliano-Richiardi, P., Greco, L., and Stazi, M.A.

Subjects
Celiac disease -- Development and progression, Celiac disease -- Genetic aspects, Celiac disease -- Risk factors, Twins -- Health aspects, Twins -- Genetic aspects, Twins -- Research, Health
Published
2006

7. Permanent diabetes mellitus in the first year of life

Author

Iafusco, D., Stazi, M., Cotichini, R., Cotellessa, M., Martinucci, M., Mazzella, M., Cherubini, V., Barbetti, F., Martinetti, M., Cerutti, F., Prisco, F., and and the Early Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology

Published
2002
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9. The first large population based twin study of coeliac disease. (Small Intestine)

Author

Greco, L., Romino, R., Coto, I., Cosmo, N. Di, Percopo, S., Maglio, M., Paparo, F., Gasperi, V., Limongelli, M.G., Cotichini, R., D'Agate, C., Tinto, N., Sacchetti, L., Tosi, R., and Stazi, M.A.

Subjects
Celiac disease -- Genetic aspects -- Research, Familial diseases -- Research -- Genetic aspects, Twin studies -- Research, Twins -- Research -- Diseases -- Genetic aspects, Health, Diseases, Research, Genetic aspects
Abstract

Background and aims: The genetic load in coeliac disease has hitherto been inferred from case series or anecdotally referred twin pairs. We have evaluated the genetic component in coeliac disease [...]

Published
2002

22. Italian Cystic Fibrosis Register - Report 2010

Author

Amato, A, Ferrigno, L, Salvatore, M, Toccaceli, V, Gruppo di lavoro RIFC/ICFR Working Group, Albera, C, Assael, B, Baldo, E, Battistini, F, Bena, C, Bernardi, M, Bertasi, S, Bignamini, E, Bisogno, A0, Braggion, C1, Cannata, L, Carnicella, A, Carnovale, V, Ciciretti, M, Cirilli, N, Collura, M, Colombo, C, Contoli, B, Cotichini, R, Cristadoro, S, Cucchiara, S, Ferrari, G, Ficili, F, Fogazza, D, Forte, F, Francalanci, M, Gagliardini, R, Iansa, P, Laezza, C, La Rosa, M, Lucidi, V, Magazzù, G, Majo, F, Manca, A, Mascotto, D, Mencarini, V, Minicucci, L, Moretti, P, Padoan, R, Pintani, E, Pisi, G, Pizzamiglio, G, Poli, F, Quattrucci, S, Raia, V, Ratclif, L, Ros, M, Salvatore, D, Seia, M, Spaggiari, C, Stazi, M, Taruscio, D, Tonelli, T, Tuccio, G, and Zavataro, L

Subjects
Registry, Cystic Fibrosis, Italy, Cystic Fibrosis, Registry, Italy
Published
2016

23. Permanent diabetes mellitus in the first year of life

Author

Iafusco, D., Stazi, M., Cotichini, R., Cotellessa, M., Martinucci, M., Mazzella, M., Cherubini, V., Barbetti, F., Martinetti, M., Cerutti, F., Prisco, F., and and the Early Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology

Published
2003
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24. Emerging effects of early environmental factors over genetic background for type 1 diabetes susceptibility: Evidence from a nationwide Italian twin study

Author

Nisticò, L, Iafusco, D, Galderisi, A, Fagnani, C, Cotichini, R, Toccaceli, V, Stazi, Ma, Study Group on Diabetes of the Italian Society of Pediatric Endocrinology, Collaborators: Cherubini V, D. i. a. b. e. t. o. l. o. g. y., Iannilli, A, Paparusso, Am, Cavallo, L, Zecchino, C, de Filippo, G, Gargantini, L, Salardi, S, Zucchini, S, Maltoni, G, Pasquino, B, Kaufmann, P, Buzi, F, Prandi, E, Gallo, F, Cicchetti, M, Castaldo, E, Citriniti, F, Chiarelli, F, Tumini, S, Di Stefano, A, Sperlì, D, De Marco, R, Banin, P, Toni, S, Lenzi, L, Del Vecchio, M, Lorini, R, D'Annunzio, G, Ingletto, D, Scaramuzza, A, Zuccotti, Gv, Chiumello, G, Meschi, F, Bonfanti, R, Frontino, G, de Luca, F, Lombardo, F, Salzano, G, Iughetti, L, Franzese, A, Buono, P, De Simone, I, Prisco, F, Cocca, A, Cadario, F, Monciotti, Cm, Savio, V, Cardella, F, Vanelli, M, Chiari, G, Errico, K, Iovane, B, Calcaterra, V, Citro, F, Cantoni, S, Marsciani, A, Cappa, M, Patera, Pi, Schiaffini, R, Sulli, N, Spoletini, M, Cerutti, Franco, Rabbone, I, Sicignano, S, Cauvin, V, Bellizzi, M, Tonini, G, Faleschini, E, Salvatoni, A, Pinelli, L, Maffeis, C, Contreas, G., Nisticò, L, Iafusco, D, Galderisi, A, Fagnani, C, Cotichini, R, Toccaceli, V, Stazi, Ma, and the Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and, Diabetology

Subjects
Adult, Male, Endocrinology, Diabetes and Metabolism, Biochemistry, Endocrinology, Clinical Biochemistry, Biochemistry (medical), medicine.medical_specialty, Adolescent, Child, Child, Preschool, Diabetes Mellitus, Type 1, Environment, Female, Humans, Infant, Kaplan-Meier Estimate, Twins, Dizygotic, Twins, Monozygotic, Genetic Predisposition to Disease, type 1 diabetes, Concordance, Population, Twins, Context (language use), Monozygotic, Internal medicine, Diabetes mellitus, Diabetes Mellitus, Dizygotic, medicine, Preschool, education, Type 1 diabetes, education.field_of_study, business.industry, medicine.disease, Twin study, Zygosity, Diabetes and Metabolism, Cohort, Environmental Exposures, business, Type 1
Abstract

Context:The incidence of type 1 diabetes has been increasing over time.Objective:We estimated the genetic and environmental components of type 1 diabetes susceptibility in a twin cohort of recent-onset cases to explore the sources of changing disease epidemiology.Design:We linked the population-based Italian Twin Registry with 14803 type 1 diabetes records from 36 pediatric diabetes care centers throughout Italy, except Sardinia, and identified 173 diabetic twins. Patients were positive for at least one autoantibody to islet cell, glutamate decarboxylase, tyrosine phosphatase, insulin, or zinc transporter 8 and were insulin dependent since their diagnosis. Zygosity was determined by DNA genotyping or by questionnaire.Outcome Measures:We estimated proband-wise concordance, cotwin recurrence risk with Kaplan-Meier method, and genetic and environmental proportions of susceptibility variance by structural equation models.Results:We recruited 104 diabetic twins (53 males) from 88 pairs (34 monozygotic, 54 dizygotic) and one triplet. The mean age at diagnosis was 8.1 yr (range 1.1-20.5 yr), and the median year of diagnosis was 2002. Proband-wise concordances were 45.5 and 16.4% in monozygotic and dizygotic pairs (P = 0.01). Recurrence risks in monozygotic and dizygotic cotwins were 37 and 12% after 10 yr from the proband's diagnosis (P = 0.005). Genetic contribution to type 1 diabetes susceptibility was 40% (95% confidence interval 8-78), and the shared and individual-specific environmental components were 51% (14-77) and 9% (4-19), respectively.Conclusions:In addition to the moderate genetic effects on type 1 diabetes susceptibility, our results draw attention to the substantial shared environmental effects, suggesting that exposures in fetal or early postnatal life may contribute to the increasing incidence of the disease.

Published
2012

25. Emerging effects of early environmental factors over genetic background for type diabetes suscetibility: Evidence from a nationwide Italian twin study

Author

Nisticò L, Iafusco D, GalderisiA, Fagnani C, Cotichini R, Toccarelli V, Stazi MA, Cherubini V, Iannilli A, Paparusso AM, Cavallo L, Zecchino C, De Filippo G, Gargantini L, Salardi S, Zucchini S, Maltoni G, Pasquino B, Kaufmann P, Buzi F, Prandi E, Bonfanti R, Nisticò, L, Iafusco, D, Galderisia, Fagnani, C, Cotichini, R, Toccarelli, V, Stazi, Ma, Cherubini, V, Iannilli, A, Paparusso, Am, Cavallo, L, Zecchino, C, De Filippo, G, Gargantini, L, Salardi, S, Zucchini, S, Maltoni, G, Pasquino, B, Kaufmann, P, Buzi, F, Prandi, E, Bonfanti, R, and Et, Al.

Published
2012

26. HERITABILITY OF TYPE 1 DIABETES MELLITUS IN A COHORT OF ITALIAN TWINS

Author

Nisticò L, Galderisi A, Cotichini R, Fagnani C, Toccaceli V, Stazi MA, the Italian Study Group on Diabetes of the Italian Society of Paediatric Endocrinology, Diabetology ISPED, IAFUSCO, Dario, Nisticò, L, Galderisi, A, Cotichini, R, Fagnani, C, Toccaceli, V, Stazi, Ma, Iafusco, Dario, the Italian Study Group on Diabetes of the Italian Society of Paediatric, Endocrinology, and Diabetology, Isped

Abstract

We identified a population-based cohort of Italian twin pairs with at least one diagnosed with type 1 diabetes mellitus (T1DM) to estimate concordance in monozygotic (MZ) and dizygotic (DZ) twins, co-twin recurrence risk and disease discordance time, genetic and environmental components of susceptibility variance to T1DM. Twins were identified linking the Italian Twin Registry with 13,354 T1DM patients records, provided by diabetologists of 35 centers from all over Italy (Sardinia excluded). Out of the 148 pairs/triplets identified, 77 pairs and 1 unlike sex triplet have been enrolled so far. DNA has been collected from saliva of 61 pairs. Zygosity in same sex pairs was assigned by genotyping nine microsatellites or by standardized questionnaire on physical resemblance when DNA was not available: 29 are MZ (17 males) and 48 are DZ (12 and 18 same sex males and females, respectively, and 18 unlike sex). Mean age at diagnosis was 8 yrs (1.1–2.5) in first affected twins and 1.7 yrs (1.4– 19.9) in concordant co-twins. Proband-wise concordances were significantly different (p = .007) between MZ (43.2% [95% CI 23.3– 63.2]) and DZ pairs (11.3% [0–23]). Five years after the diagnosis in the index twins’ cumulative incidences were 35% in MZ co-twins and 6% in DZ co-twins. In concordant pairs, MZ co-twins developed T1DM within 34 days — 5.2 years (median 1.1 yrs) and DZ cotwins within 0 days — 7 yrs (median 4.7 yrs) from diagnoses of the index twins. In discordant pairs, median follow-up times are 4.45 yrs (range: .4–19.0) for MZ and 6.8 yrs (.2–31.8) for DZ unaffected cotwins. Under an ACE model, heritability (A) was estimated at .633 (.159–.893), while contributions of familial (C) and individual-specific (E) environmental effects were .154 (0–.546) and .213 (.107–.366), respectively. This study confirms the substantial contribution of genetics in T1DM susceptibility, with a significant role of individual specific factors. These results are in line with those observed in Finnish and Danish populations. Final results on a larger sample will be shown at the congress.

Published
2010

27. Studio pilota longitudinale su una coorte di neonati gemelli

Author

Brescianini, S, Giampietro, S, Bartoli, A, Cotichini, R, Ghirri, P., BONACASA, Cristina, GIUFFRE, Mario, Brescianini, S, Bonacasa, C, Giampietro, S, Bartoli, A, Cotichini, R, Giuffrè, M, and Ghirri, P

Subjects
Settore MED/38 - Pediatria Generale E Specialistica, neonato, gemelli
Published
2009

28. Proposal for an integrated approach to rare diseases: a study between basic laboratory models and clinical epidemiology in amyotrophic lateral sclerosis (ALS)

Author

LOIZZO A, TARUSCIO D, NISTICÒ L, VICHI M, BEGHI E, CHIÒ A, CAMPANELLA C, CONTI S, COSTA L, COTICHINI R, D'ALFONSO S, LEONE M, LOGROSCINO G, LOIZZO S, FORTUNA A, MASOCCO M, MAZZINI L, NASUELLI N, PETRINI C, SALERNO P, TOCCACELI V, VANACORE N., CAMPANA, GABRIELE, SPAMPINATO, SANTI MARIO, LOIZZO A, TARUSCIO D, NISTICÒ L, VICHI M, BEGHI E, CHIÒ A, CAMPANA G, CAMPANELLA C, CONTI S, COSTA L, COTICHINI R, D'ALFONSO S, LEONE M, LOGROSCINO G, LOIZZO S, FORTUNA A, MASOCCO M, MAZZINI L, NASUELLI N, PETRINI C, SALERNO P, SPAMPINATO S, TOCCACELI V, and VANACORE N

Published
2007

29. Multiple sclerosis in twins from continental Italy and Sardinia: a nationwide study

Author

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

30. Genetic and environmental effects on carotid flow velocities: An international twin study

Author

Lucatelli, P. a., Tarnoki, A. D. b, Tarnoki, D. L. b, Giannoni, Maria Fabrizia, Gazzetti, M. c, Boatta, E. a, Zini, C. a, Cotichini, R. d, Baracchini, C. e, Meneghetti, G. e, Nisticó, L. d, Fagnani, C. d, Karlinger, K. b, Horvath, T. f, Molnar, A. A., Gh, Garami, Z. i, Medda, E. d, Stazi, M. A. d, Berczi, V. b, and Fanelli, F. a.

Subjects
Adult, Male, medicine.medical_specialty, Carotid Artery, Common, Diastole, Cohort Studies, Young Adult, Ultrasound screening, Ischemia, Risk Factors, medicine.artery, Internal medicine, Medicine, Humans, Carotid Stenosis, Genetic Predisposition to Disease, Common carotid artery, Aged, Genetics, Hungary, business.industry, Ultrasonography, Doppler, Blood flow, Heritability, Middle Aged, Twin study, United States, Stroke, Italy, cardiovascular system, Cardiology, Carotid flow, Regression Analysis, Female, Gene-Environment Interaction, Internal carotid artery, Cardiology and Cardiovascular Medicine, business, Blood Flow Velocity, Carotid Artery, Internal
Abstract

Introduction Altered carotid blood flow velocities (CFV) have a complex background but the underlying genetic contribution is still unclear. We sought to evaluate the influence of genetics, shared and unshared environmental components on individual differences of CFV. Methods 193 healthy twin pairs, 126 monozygotic (MZ) and 67 dizygotic (DZ) (mean age 53 ± 14 years) recruited in Italy, in the United States and in Hungary underwent bilateral color-coded Doppler flow assessment of the common carotid artery (CCA) and of the internal carotid artery (ICA) in order to assess the peak systolic (PSV) and end diastolic (EDV) velocities. Means of bilateral CFV values were used in the analysis. Results Age- and country-adjusted intra-class correlations were higher in monozygotic than in dizygotic pairs for mean PSV of the ICA indicating a heritability of 63%. Unique environmental factors contributed to 37% of ICA PSV. With regards to the mean PSV and EDV of the CCA, and EDV of the ICA, heritability analysis indicated no discernible role for genetic components, while the contributions of shared and unshared environmental factors ranged between 56% and 63%, and between 37% and 44% adjusted for age and country, respectively. Mean ICA/CCA ratio was driven by unique environmental factors (82%) with modest heritability (18%). Conclusions Our study showed that the heritability of ICA PSV and ICA/CCA ratio is moderate, while the findings do not support heritability of other investigated CFV values. Environmental effects account for a moderate to major portion of the variance. These findings support the value of early ultrasound screening as well as the prevention of modifiable environmental factors in case of altered carotid flow velocities.

Published
2013

35. Twins Lead to the Prevention of Atherosclerosis: Preliminary Findings of International Twin Study 2009

Author

Tarnoki, A. D., Tarnoki, D. L., Stazi, M. A., Medda, E, Cotichini, R, Lucatelli, Pierleone, Boatta, E, Zini, Chiara, Baracchini, C, Meneghetti, G, Nisticó, L, Fagnani, C, Fanelli, F, Giannoni, Maria Fabrizia, Gazzetti, Marianna, Osztovits, J, Préda, I, Kiss, R. G., Littvay, L, Metneki, J, Horvath, T, Karlinger, K, Lannert, A, Yang, E, Nambi, V, Molnar, A, Berczi, V, and Garami, Z.

Subjects
Supraortic Vessels Ultrasonography, Twins, Genetic etiology, Atherosclerosis
Published
2011

37. Evaluation of genetic and environmental factors in a cohort of twins with amyotrophic lateral sclerosis (ALS)

Author

Nisticò, L, Cotichini, R, Lagalla, G, Provinciali, L, Logroscino, G, Zoccolella, S, Mandrioli, Jh, Sola, P, Moinsurrò, Mr, Trojsi, F, Mazzini, L, Nasuelli, N, Beghi, E, Millul, A, Cima, V, Sorarù, G, la Bella, V, Spataror, Bongioanni, P, Rossi, B, Giacomelli, E, Inghilleri, M, Antonini, G, Bucci, E, Pontieri, E, Benincasa, D, Chio', Adriano, Vanacore, N, Toccaceli, V, and Leone, M.

Published
2008

38. Multiple sclerosis in twins fromcontinental italy and sardinia: a nationwide study

Author

Ristori, G., Cannoni, S., ANTONIETTA STAZI, M., Vanacore, N., Cotichini, R., Alfo, M., Pugliatti, M., Sotgiu, S., Solaro, C., Bomprezzi, R., DI GIOVANNI, S., Figatalamanca, L., Nistico, L., Fagnani, C., Neale, M. C., Cascino, I., Giorgi, G., Battaglia, M. A., Buttinelli, C., Tosi, R., Salvetti, AND M., and Durelli, Luca

Published
2006

40. Multiple sclerosis in twins from continental Italy and Sardinia: A nationwide study

Author

Ristori, G, Cannoni, S, Stazi, Ma, Vanacore, N, Cotichini, R, Alfo, M, Pugliatti, M, Sotgiu, S, Solaro, C, Bomprezzi, R, Di Giovanni, S, Talamanca, Lf, Nistico, L, Fagnani, C, Neale, Mc, Cascino, I, Giorgi, G, Battaglia, Ma, Buttinelli, C, Tosi, R, Salvetti, M, Italian Study Group on Multiple Sclerosis in Twins Melato, M., Dellantonio, R, Sironi, L, Bottacchi, E, Signorino, M, Angeloni, R, Curatola, R, Paci C, C., Ragno, M, Sirocchi, G, Vurchio, Am, Duc, E, Spitaleri, D, Trojano, M, Liguori, M, Cimini, G. Moretto, Porta, M., Rottoli, M. R., Mamoli, A., Camer lingo, M., Nardozza, E., Sacquegna, T., Stecchi, S., Scandellari, C., Callea, L., Capra, R., Codella, M., Marrosu, M. G., Cocco, E., Spissu, A., Cossu, G., Tronci, S., Di Lauro, A., Lombardi, E., Reggio, A., Patti, F., Valentino, P., Quattrone, A., Dfarina, D. Farina, Nives, M. E., Lugaresi, A., Perla, F., Mgrosso, M. G. Rosso, Tola, M. R., Granieri, E., Pamato, M. P. Amato, Massacesi, L., Millefiorini, E., Durastanti, V., Mancardi, G. L., Murialdo, A., Nrpizio, N. R. Pizio, Bellantonio, P., Fantozzi, R., Totaro, R., Carolei, A., Giramma, F., Lazzaro, A. T., Giraldi, C., Mazzoni, M., Giuliani, G., Pucci, E., Previdi, P., Mcfazio, M. C. Fazio, Buccafusca, M., Girlanda, P., Cmessina, C. Messina, Gd’Aleo, G. D’Aleo, Milanese, C., La Mantia, L., Caputo, D., Scarpini, E., Clerici, R., Moiola, L., Gironi, M., Merelli, E., Casoni, F., Bonavita, S., Tedeschi, G., Mleone, M. Leone, Mittino, D., Murgia, S. B., Musu, L., Gallo, P., Perini, P., Frasson, E., Salemi, G., Cuccia, G., Montanari, E., Lmanneschi, L. Manneschi, Saviola, D., Antonelli, M., Cosi, V., Rbergamaschi, R. Bergamaschi, Gallai, V., Murasecco, D., Sarchielli, P., Urcioli, R., Perticoni, G., Meucci, G., Moscato, G., Lucci, E. Covezzi, Coniglio, M. G., Dacquistapace, D. Acquistapace, Motti, L., Dossi Curro, B., Frontoni, M., Mainero, C., Giannetti, P., Pestalozza, I., Di Legge, S., Spadaro, M., Pozzilli, C., Romano, S., Mercuri, B., Scoppetta, C., Gasperini, C., Sgalgani, S. Galgani, Ggrasso, M. G. Grasso, Paolucci, S., Tonali, P. A., Leonardi, A., Oneto, A., Rosati, G., Sotgiu, M. A., Bertolotto, A., Capobianco, M., Durelli, Luca, Clerico, Marinella, Sosso, L., Bongioanni, R., Orrico, D., Carbonin, C., Freo, U., Zaffaroni, M., Ghezzi, A., and Falcone, N.

Published
2006

41. Prevalence of hepatitis C virus infection in lymphoproliferative diseases other than B-cell non-Hodgkin's lymphoma, and in myeloproliferative diseases: an Italian multi-center case-control study

Author

Bianco, E., Marcucci, F., Mele, A., Musto, P., Cotichini, R., Sanpaolo, M. G., Iannitto, E., Renzo, A., Martino, B., Giorgina Specchia, Montanaro, M., Barbui, A. M., Nieddu, R., Pagano, L., Rapicetta, M., Franceschi, S., Mandelli, F., and Pulsoni, A.

Subjects
hcv, hepatitis c virus, lymphoproliferative diseases, myeloproliferative diseases
Published
2004

42. Heritability of arterial stiffness and carotid intima-media thickness: An Italian twin study

Author

Medda, E., primary, Fagnani, C., additional, Schillaci, G., additional, Tarnoki, A.D., additional, Tarnoki, D.L., additional, Baracchini, C., additional, Meneghetti, G., additional, Fanelli, F., additional, Alaeddin, A., additional, Pucci, G., additional, Alviti, S., additional, Cotichini, R., additional, Brescianini, S., additional, Boatta, E., additional, Lucatelli, P., additional, Nisticò, L., additional, Penna, L., additional, Salemi, M., additional, Toccaceli, V., additional, Zini, C., additional, Garami, Z., additional, and Stazi, M.A., additional

Published
2014
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43. Permanent diabetes mellitus in the first year of life

Author

Iafusco, D, Stazi, Ma, Cotichini, R, Cotellessa, M, Martinucci, Me, Mazzella, M, Cherubini, V, Barbetti, F, Martinetti, M, Cerutti, Franco, Prisco, F, Early Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology, Diabetology, Iafusco, Dario, M. A., Stazi, R., Cotichini, M., Cotellessa, M. E., Martinucci, M., Mazzella, V., Cherubini, F., Barbetti, M., Martinetti, F., Cerutti, and F., PRISCO AND THE EARLY ONSET DIABETES STUDY GROUP OF THE ITALIAN SOCIETY OF PAEDIATRIC ENDOCRINOLOGY AND DIABETOLOGY

Subjects
Male, medicine.medical_specialty, non-autoimmune diabetes mellitus, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Birth weight, Population, Gestational Age, Permanent neonatal diabetes, Type I diabetes, HLA protective heterodimers, autoimmune enteropathy, Settore MED/13 - Endocrinologia, Cohort Studies, Islets of Langerhans, Risk Factors, Internal medicine, Diabetes mellitus, Internal Medicine, Medicine, Birth Weight, Humans, Insulin, Age of Onset, education, Autoantibodies, Autoimmune disease, education.field_of_study, business.industry, Infant, Newborn, Infant, Permanent neonatal diabetes mellitus, Infant, Low Birth Weight, medicine.disease, Diabetes Mellitus, Type 1, Italy, Cohort, Immunology, Female, Seasons, Age of onset, business
Abstract

The pathogenesis of permanent diabetes mellitus diagnosed early in life is heterogeneous and, in most cases, not known. We aimed at identifying markers differentiating between non-autoimmune and autoimmune diabetes.The clinical, genetic and epidemiological features of 111 diabetic patients (62 males) who received insulin within 12 months of life were studied.The epidemic curve by age of diabetes onset revealed two subsets of patients at a cutoff of 180 days. In the group with diabetes onset before 180 days ("early onset" permanent diabetes) the analysis of HLA susceptibility heterodimers (available for 21 individuals) showed that 76% had a "protective" HLA genotype for Type I (insulin-dependent) diabetes mellitus as compared to 11.9% (5/42) of the later onset group. Accordingly, "early onset" children were less likely to have autoimmunity markers (4 out of 26 tested) than children with onset after 180 days (13 out 20 tested) (15.4% vs. 65.0%, p0.01). Of note, 19 out of 20 (or the 95%) patients who were born on the island of Sardinia, an Italian region where the incidence of Type I diabetes is six times higher than continental Italy (33/100,000/year vs 5/100,000/year), were included in the later onset group (180 days). Small-for-date birthweight, a possible sign of reduced foetal insulin secretion, was more common in the "early onset" group (OR=9.9, 95%-CI 2.6-38.6).These results, obtained in the largest population-based cohort of diabetic infants hitherto reported, suggest that "early onset" permanent diabetes cases differ from later onset cases and that most of them do not have an autoimmune pathogenesis.

Published
2001

44. Acute promyelocytic leukaemia: epidemiology and risk factors. A report of the GIMEMA Italian archive of adult acute leukaemia. GIMEMA Cooperative Group

Author

Pulsoni, Alessandro, Stazi, A., Cotichini, R., Allione, B., Cerri, R., Di Bona, E., Nosari, A. M., Pagano, L., Recchia, A., Ribersani, M., Rocchi, L., Veneri, D., Visani, G., Mandelli, Franco, and Mele, A.

Subjects
Adult, Male, Adolescent, Italy, Leukemia, Promyelocytic, Acute, Risk Factors, Age Factors, Humans, Female, Middle Aged, Aged
Abstract

Acute promyelocytic leukaemia (APL) exhibits peculiar epidemiological, clinical, cytogenetic and molecular features, compared to the other acute myeloid leukaemias (AML). Data on epidemiology and occupational risk factors for APL desumed from the GIMEMA archive are reported and compared with those of the other AML. An exploratory case-case study was designed on AML patients from 56 haematology centres in Italy. Overall, 4296 patients older than 15 yr with a new diagnosis of acute leukaemia were recorded between July 1992 and July 1997. Of these, 335 were classified as APL, and 2894 as other AML. The median age of APL patients was 43 compared to 59 yr for the other AML (p0.00001). In order to identify peculiar risk factors for APL development, different parameters were compared in the 2 groups. After adjusting by age no significant differences were observed with regard to education, lifetime prevalence of cancer among siblings and previous diseases in the patient's history. Occupational exposure as a possible risk factor for APL showed no increased risk compared to other AML among farmers, builders and leather workers. A significant association was found in electricians (OR=4.4, 95% CI=2.0-9.7) and a weak association was found in wood workers (OR=3.2, 95% CI=0.8-10.8). The proportion of APL with respect to other AML was significantly higher in the north east of Italy compared to the rest of the country (OR=1.7, 95% CI=1.3-2.2). These data confirm the younger age of APL patients compared to the other AML. A possible role of electromagnetic fields is suggested by the higher risk of APL in electrical workers and in the more industrialized areas of the country.

Published
1998

45. A DEVELOPING STORY: TWINS AND EARLY ATHEROSCLEROSIS PREVENTION

Author

Tarnoki, D. L., primary, Tarnoki, A. D., additional, Cotichini, R., additional, Fagnani, C., additional, Fanelli, F., additional, Baracchini, C., additional, Meneghetti, G., additional, Schillaci, G., additional, Kiss, R. G., additional, Lannert, A., additional, Littvay, L., additional, Molnar, A. A., additional, Nambi, V., additional, Garami, Z., additional, and Berczi, V., additional

Published
2011
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46. Serum elements and oxidative status in clinically isolated syndromes

Author

Ristori, G., primary, Brescianini, S., additional, Pino, A., additional, Visconti, A., additional, Vittori, D., additional, Coarelli, G., additional, Cotichini, R., additional, Bocca, B., additional, Forte, G., additional, Pozzilli, C., additional, Pestalozza, I., additional, Stazi, M.A., additional, Alimonti, A., additional, and Salvetti, M., additional

Published
2011
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47. P188 ASSOCIATION BETWEEN ATHEROSCLEROSIS AND LUNG FUNCTION – RESULTS FROM INTERNATIONAL TWIN STUDY 2009

Author

Tarnoki, D.L., primary, Tarnoki, A.D., additional, Stazi, A., additional, Medda, E., additional, Cotichini, R., additional, Baracchini, C., additional, Meneghetti, G., additional, Fanelli, F., additional, Littvay, L., additional, Metneki, J., additional, Molnar, A.A., additional, Garami, Z., additional, Berczi, V., additional, Lazar, Z., additional, and Horvath, I., additional

Published
2010
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48. P205 ATHEROSCLEROSIS AND BODY COMPOSITION. FINDINGS OF INTERNATIONAL TWIN STUDY 2009

Author

Tarnoki, A., primary, Tarnoki, D.L., additional, Stazi, A., additional, Medda, E., additional, Cotichini, R., additional, Fagnani, C., additional, Nisticò, L., additional, Lucatelli, P., additional, Boatta, E., additional, Zini, C., additional, Meneghetti, G., additional, Baracchini, C., additional, Osztovits, J., additional, Jermendy, G., additional, Littvay, L., additional, Metneki, J., additional, Karlinger, K., additional, Molnar, A.A., additional, Fanelli, F., additional, Garami, Z., additional, and Berczi, V., additional

Published
2010
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49. Cardiovascular Risk Factors, Nonalcoholic Fatty Liver Disease, and Carotid Artery Intima-Media Thickness in an Adolescent Population in Southern Italy

Author

Caserta, C. A., primary, Pendino, G. M., additional, Amante, A., additional, Vacalebre, C., additional, Fiorillo, M. T., additional, Surace, P., additional, Messineo, A., additional, Surace, M., additional, Alicante, S., additional, Cotichini, R., additional, Zuin, M., additional, Rosmini, F., additional, Mele, A., additional, and Marcucci, F., additional

Published
2010
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50. 985 NAFLD PREVALENCE AND CARDIOVASCULAR RISK IN A POPULATION OF ADOLESCENTS IN SOUTHERN ITALY

Author

Caserta, C.A., primary, Pendino, G.M., additional, Surace, P., additional, Fiorillo, M.T., additional, Alicante, S., additional, Vacalebre, C., additional, Amato, F., additional, Amante, A., additional, Marra, M., additional, Gutamo, G., additional, Messineo, A., additional, Surace, M., additional, Polito, I., additional, Cotichini, R., additional, Ferrigno, L., additional, Rosmini, F., additional, Mele, A., additional, and Marcucci, F., additional

Published
2009
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