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222 results on '"Stazi, M. A."'

1. An agonist of CXCR4 induces a rapid recovery from the neurotoxic effects of Vipera ammodytes and Vipera aspis venoms.

Author

Stazi, M., Megighian, A., D'Este, G., Negro, S., Ivanušec, A., Lonati, D., Pirazzini, M., Križaj, I., and Montecucco, C.

Subjects
*VENOM, *CXCR4 receptors, *STROMAL cell-derived factor 1, *SNAKEBITES, *SMALL molecules, *MYONEURAL junction, *SCHWANN cells
Abstract

People bitten by Alpine vipers are usually treated with antivenom antisera to prevent the noxious consequences caused by the injected venom. However, this treatment suffers from a number of drawbacks and additional therapies are necessary. The venoms of Vipera ammodytes and of Vipera aspis are neurotoxic and cause muscle paralysis by inducing neurodegeneration of motor axon terminals because they contain a presynaptic acting sPLA2 neurotoxin. We have recently found that any type of damage to motor axons is followed by the expression and activation of the intercellular signaling axis consisting of the CXCR4 receptor present on the membrane of the axon stump and of its ligand, the chemokine CXCL12 released by activated terminal Schwann cells. We show here that also V. ammodytes and V. aspis venoms cause the expression of the CXCL12‐CXCR4 axis. We also show that a small molecule agonist of CXCR4, dubbed NUCC‐390, induces a rapid regeneration of the motor axon terminal with functional recovery of the neuromuscular junction. These findings qualify NUCC‐390 as a promising novel therapeutics capable of improving the recovery from the paralysis caused by the snakebite of the two neurotoxic Alpine vipers. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Age-Related Variations of Genetic and Environmental Contributions to the Covariation of Fear, Distress and Externalizing Symptoms: A Twin Study in Childhood and Adolescence

Author

De Francesco, S, Scaini, S, Alessandri, G, Medda, E, Camoni, L, Stazi, M, Fagnani, C, De Francesco, Stefano, Scaini, Simona, Alessandri, Guido, Medda, Emanuela, Camoni, Laura, Stazi, Maria Antonietta, Fagnani, Corrado, De Francesco, S, Scaini, S, Alessandri, G, Medda, E, Camoni, L, Stazi, M, Fagnani, C, De Francesco, Stefano, Scaini, Simona, Alessandri, Guido, Medda, Emanuela, Camoni, Laura, Stazi, Maria Antonietta, and Fagnani, Corrado

Abstract

The frequency with which Internalizing and Externalizing symptoms co-occur suggests that, behind both domains, there may be a common susceptibility represented by a general psychopathology factor. However, it’s still unclear whether this common susceptibility is affected by age-related variations. Internalizing (i.e., Fear and Distress) and Externalizing symptoms were evaluated in 803 twin pairs from the population-based Italian Twin Registry. Model-fitting analysis was performed separately in the 6–14 and 15–18 age groups to estimate genetic and environmental contributions to the covariance among symptoms. For the 6–14 group, a multivariate Cholesky model best fitted the data, while, for the 15–18 group, the best fit was provided by a Common Pathway model in which nearly 50% of total variance of each trait was mediated by common genetic factors. Our findings support a common susceptibility behind Internalizing and Externalizing symptoms, mainly genetic in origin, that becomes more evident at the beginning of puberty.

Published
2023

13. 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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15. 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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24. Association of current and former smoking with body mass index : A study of smoking discordant twin pairs from 21 twin cohorts

Author

Piirtola, M., Jelenkovic, A., Latvala, A., Sund, R., Honda, C., Inui, F., Watanabe, M., Tomizawa, R., Iwatani, Y., Ordoñana, J. R., Sánchez-Romera, J. F., Colodro-Conde, L., Tarnoki, A. D., Tarnoki, D. L., Martin, N. G., Montgomery, G. W., Medland, S. E., Rasmussen, F., Tynelius, P., Tan, Q., Zhang, D., Pang, Z., Rebato, E., Stazi, M. A., Fagnani, C., Brescianini, S., Busjahn, A., Harris, J. R., Brandt, I., Nilsen, T. S., Cutler, T. L., Hopper, J. L., Corley, R. P., Huibregtse, B. M., Sung, J., Kim, J., Lee, J., Lee, S., Gatz, M., Butler, D. A., Franz, C. E., Kremen, W. S., Lyons, M. J., Magnusson, P. K. E., Pedersen, N. L., Dahl Aslan, Anna K., Öncel, S.Y., Aliev, F., Derom, C. A., Vlietinck, R. F., Loos, R. J. F., Silberg, J. L., Maes, H. H., Boomsma, D. I., Sørensen, T. I. A., Korhonen, T., Kaprio, J., Silventoinen, K., Piirtola, M., Jelenkovic, A., Latvala, A., Sund, R., Honda, C., Inui, F., Watanabe, M., Tomizawa, R., Iwatani, Y., Ordoñana, J. R., Sánchez-Romera, J. F., Colodro-Conde, L., Tarnoki, A. D., Tarnoki, D. L., Martin, N. G., Montgomery, G. W., Medland, S. E., Rasmussen, F., Tynelius, P., Tan, Q., Zhang, D., Pang, Z., Rebato, E., Stazi, M. A., Fagnani, C., Brescianini, S., Busjahn, A., Harris, J. R., Brandt, I., Nilsen, T. S., Cutler, T. L., Hopper, J. L., Corley, R. P., Huibregtse, B. M., Sung, J., Kim, J., Lee, J., Lee, S., Gatz, M., Butler, D. A., Franz, C. E., Kremen, W. S., Lyons, M. J., Magnusson, P. K. E., Pedersen, N. L., Dahl Aslan, Anna K., Öncel, S.Y., Aliev, F., Derom, C. A., Vlietinck, R. F., Loos, R. J. F., Silberg, J. L., Maes, H. H., Boomsma, D. I., Sørensen, T. I. A., Korhonen, T., Kaprio, J., and Silventoinen, K.

Abstract

Background Smokers tend to weigh less than never smokers, while successful quitting leads to an increase in body weight. Because smokers and non-smokers may differ in genetic and environmental family background, we analysed data from twin pairs in which the co-twins differed by their smoking behaviour to evaluate if the association between smoking and body mass index (BMI) remains after controlling for family background. Methods and findings The international CODATwins database includes information on smoking and BMI measured between 1960 and 2012 from 156,593 twin individuals 18–69 years of age. Individual-based data (230,378 measurements) and data of smoking discordant twin pairs (altogether 30,014 pairwise measurements, 36% from monozygotic [MZ] pairs) were analysed with linear fixed-effects regression models by 10-year periods. In MZ pairs, the smoking co-twin had, on average, 0.57 kg/m2 lower BMI in men (95% confidence interval (CI): 0.49, 0.70) and 0.65 kg/m2 lower BMI in women (95% CI: 0.52, 0.79) than the never smoking co-twin. Former smokers had 0.70 kg/m2 higher BMI among men (95% CI: 0.63, 0.78) and 0.62 kg/ m2 higher BMI among women (95% CI: 0.51, 0.73) than their currently smoking MZ co-twins. Little difference in BMI was observed when comparing former smoking co-twins with their never smoking MZ co-twins (0.13 kg/m2, 95% CI 0.04, 0.23 among men; -0.04 kg/m2, 95% CI -0.16, 0.09 among women). The associations were similar within dizygotic pairs and when analysing twins as individuals. The observed series of cross-sectional associations were independent of sex, age, and measurement decade. Conclusions Smoking is associated with lower BMI and smoking cessation with higher BMI. However, the net effect of smoking and subsequent cessation on weight development appears to be minimal, i.e. never more than an average of 0.7 kg/m2

Published
2018
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25. P742Biomechanical properties of the human internal jugular vein wall are heritable

Author

Molnar, A A, primary, Tarnoki, A D, additional, Tarnoki, D L, additional, Littvay, L, additional, Medda, E, additional, Fagnani, C, additional, Arnofi, A, additional, Farina, F, additional, Baracchini, C, additional, Meneghetti, G, additional, Pucci, G, additional, Schillaci, G, additional, Stazi, M A, additional, Merkely, B, additional, and Nadasy, G, additional

Published
2018
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30. Differences in genetic and environmental variation in adult BMI by sex, age, time period, and region : An individual-based pooled analysis of 40 twin cohorts

Author

Silventoinen, K., Jelenkovic, A., Sund, R., Yokoyama, Y., Hur, Y. -M, Cozen, W., Hwang, A. E., Mack, T. M., Honda, C., Inui, F., Iwatani, Y., Watanabe, M., Tomizawa, R., Pietilainen, K. H., Rissanen, A., Siribaddana, S. H., Hotopf, M., Sumathipala, A., Rijsdijk, F., Tan, Q., Zhang, D., Pang, Z., Piirtola, M., Aaltonen, S., Oncel, S. Y., Aliev, F., Rebato, E., Hjelmborg, J. B., Christensen, K., Skytthe, A., Kyvik, K. O., Silberg, J. L., Eaves, L. J., Cutler, T. L., Ordonana, J. R., Sanchez-Romera, J. F., Colodro-Conde, L., Song, Y. -M, Yang, S., Lee, K., Franz, C. E., Kremen, W. S., Lyons, M. J., Busjahn, A., Nelson, T. L., Whitfield, K. E., Kandler, C., Jang, K. L., Gatz, M., Butler, D. A., Stazi, M. A., Fagnani, C., D'Ippolito, C., Duncan, G. E., Buchwald, D., Martin, N. G., Medland, S. E., Montgomery, G. W., Jeong, H. -U, Swan, G. E., Krasnow, R., Magnusson, P. K. E., Pedersen, N. L., Dahl Aslan, Anna K., McAdams, T. A., Eley, T. C., Gregory, A. M., Tynelius, P., Baker, L. A., Tuvblad, C., Bayasgalan, G., Narandalai, D., Spector, T. D., Mangino, M., Lachance, G., Burt, S. A., Klump, K. L., Harris, J. R., Brandt, I., Nilsen, T. S., Krueger, R. F., McGue, M., Pahlen, S., Corley, R. P., Huibregtse, B. M., Bartels, M., Van Beijsterveldt, C. E. M., Willemsen, G., Goldberg, J. H., Rasmussen, F., Tarnoki, A. D., Tarnoki, D. L., Derom, C. A., Vlietinck, R. F., Loos, R. J. F., Hopper, J. L., Sung, J., Maes, H. H., Turkheimer, E., Boomsma, D. I., Sørensen, T. I. A., Kaprio, J., Silventoinen, K., Jelenkovic, A., Sund, R., Yokoyama, Y., Hur, Y. -M, Cozen, W., Hwang, A. E., Mack, T. M., Honda, C., Inui, F., Iwatani, Y., Watanabe, M., Tomizawa, R., Pietilainen, K. H., Rissanen, A., Siribaddana, S. H., Hotopf, M., Sumathipala, A., Rijsdijk, F., Tan, Q., Zhang, D., Pang, Z., Piirtola, M., Aaltonen, S., Oncel, S. Y., Aliev, F., Rebato, E., Hjelmborg, J. B., Christensen, K., Skytthe, A., Kyvik, K. O., Silberg, J. L., Eaves, L. J., Cutler, T. L., Ordonana, J. R., Sanchez-Romera, J. F., Colodro-Conde, L., Song, Y. -M, Yang, S., Lee, K., Franz, C. E., Kremen, W. S., Lyons, M. J., Busjahn, A., Nelson, T. L., Whitfield, K. E., Kandler, C., Jang, K. L., Gatz, M., Butler, D. A., Stazi, M. A., Fagnani, C., D'Ippolito, C., Duncan, G. E., Buchwald, D., Martin, N. G., Medland, S. E., Montgomery, G. W., Jeong, H. -U, Swan, G. E., Krasnow, R., Magnusson, P. K. E., Pedersen, N. L., Dahl Aslan, Anna K., McAdams, T. A., Eley, T. C., Gregory, A. M., Tynelius, P., Baker, L. A., Tuvblad, C., Bayasgalan, G., Narandalai, D., Spector, T. D., Mangino, M., Lachance, G., Burt, S. A., Klump, K. L., Harris, J. R., Brandt, I., Nilsen, T. S., Krueger, R. F., McGue, M., Pahlen, S., Corley, R. P., Huibregtse, B. M., Bartels, M., Van Beijsterveldt, C. E. M., Willemsen, G., Goldberg, J. H., Rasmussen, F., Tarnoki, A. D., Tarnoki, D. L., Derom, C. A., Vlietinck, R. F., Loos, R. J. F., Hopper, J. L., Sung, J., Maes, H. H., Turkheimer, E., Boomsma, D. I., Sørensen, T. I. A., and Kaprio, J.

Abstract

Background: Genes and the environment contribute to variation in adult body mass index [BMI (in kg/m2)], but factors modifying these variance components are poorly understood. Objective: We analyzed genetic and environmental variation in BMI between men and women from young adulthood to old age from the 1940s to the 2000s and between cultural-geographic regions representing high (North America and Australia), moderate (Europe), and low (East Asia) prevalence of obesity. Design: We used genetic structural equation modeling to analyze BMI in twins ≥20 y of age from 40 cohorts representing 20 countries (140,379 complete twin pairs). Results: The heritability of BMI decreased from 0.77 (95% CI: 0.77, 0.78) and 0.75 (95% CI: 0.74, 0.75) in men and women 20-29 y of age to 0.57 (95% CI: 0.54, 0.60) and 0.59 (95% CI: 0.53, 0.65) in men 70-79 y of age and women 80 y of age, respectively. The relative influence of unique environmental factors correspondingly increased. Differences in the sets of genes affecting BMI in men and women increased from 20-29 to 60-69 y of age. Mean BMI and variances in BMI increased from the 1940s to the 2000s and were greatest in North America and Australia, followed by Europe and East Asia. However, heritability estimates were largely similar over measurement years and between regions. There was no evidence of environmental factors shared by co-twins affecting BMI. Conclusions: The heritability of BMI decreased and differences in the sets of genes affecting BMI in men and women increased from young adulthood to old age. The heritability of BMI was largely similar between cultural-geographic regions and measurement years, despite large differences in mean BMI and variances in BMI. Our results show a strong influence of genetic factors on BMI, especially in early adulthood, regardless of the obesity level in the population.

Published
2017
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31. 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

32. 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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33. Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994

Author

Jelenkovic, A., Hur, Y. -M, Sund, R., Yokoyama, Y., Siribaddana, S. H., Hotopf, M., Sumathipala, A., Rijsdijk, F., Tan, Q., Zhang, D., Pang, Z., Aaltonen, S., Heikkilä, K., Öncel, S.Y., Aliev, F., Rebato, E., Tarnoki, A. D., Tarnoki, D. L., Christensen, K., Skytthe, A., Kyvik, K. O., Silberg, J. L., Eaves, L. J., Maes, H. H., Cutler, T. L., Hopper, J. L., Ordoñana, J. R., Sánchez-Romera, J. F., Colodro-Conde, L., Cozen, W., Hwang, A. E., Mack, T. M., Sung, J., Song, Y. -M, Yang, S., Lee, K., Franz, C. E., Kremen, W. S., Lyons, M. J., Busjahn, A., Nelson, T. L., Whitfield, K. E., Kandler, C., Jang, K. L., Gatz, M., Butler, D. A., Stazi, M. A., Fagnani, C., D’Ippolito, C., Duncan, G. E., Buchwald, D., Derom, C. A., Vlietinck, R. F., Loos, R. J., Martin, N. G., Medland, S. E., Montgomery, G. W., Jeong, H. -U, Swan, G. E., Krasnow, R., Magnusson, P. K., Pedersen, N. L., Dahl-Aslan, Anna K., McAdams, T. A., Eley, T. C., Gregory, A. M., Tynelius, P., Baker, L. A., Tuvblad, C., Bayasgalan, G., Narandalai, D., Lichtenstein, P., Spector, T. D., Mangino, M., Lachance, G., Bartels, M., Van Beijsterveldt, T. C., Willemsen, G., Alexandra Burt, S., Klump, K. L., Harris, J. R., Brandt, I., Nilsen, T. S., Krueger, R. F., McGue, M., Pahlen, S., Corley, R. P., Hjelmborg, J. V. B., Goldberg, J. H., Iwatani, Y., Watanabe, M., Honda, C., Inui, F., Rasmussen, F., Huibregtse, B. M., Boomsma, D. I., Sørensen, T. I. A., Kaprio, J., Silventoinen, K., Jelenkovic, A., Hur, Y. -M, Sund, R., Yokoyama, Y., Siribaddana, S. H., Hotopf, M., Sumathipala, A., Rijsdijk, F., Tan, Q., Zhang, D., Pang, Z., Aaltonen, S., Heikkilä, K., Öncel, S.Y., Aliev, F., Rebato, E., Tarnoki, A. D., Tarnoki, D. L., Christensen, K., Skytthe, A., Kyvik, K. O., Silberg, J. L., Eaves, L. J., Maes, H. H., Cutler, T. L., Hopper, J. L., Ordoñana, J. R., Sánchez-Romera, J. F., Colodro-Conde, L., Cozen, W., Hwang, A. E., Mack, T. M., Sung, J., Song, Y. -M, Yang, S., Lee, K., Franz, C. E., Kremen, W. S., Lyons, M. J., Busjahn, A., Nelson, T. L., Whitfield, K. E., Kandler, C., Jang, K. L., Gatz, M., Butler, D. A., Stazi, M. A., Fagnani, C., D’Ippolito, C., Duncan, G. E., Buchwald, D., Derom, C. A., Vlietinck, R. F., Loos, R. J., Martin, N. G., Medland, S. E., Montgomery, G. W., Jeong, H. -U, Swan, G. E., Krasnow, R., Magnusson, P. K., Pedersen, N. L., Dahl-Aslan, Anna K., McAdams, T. A., Eley, T. C., Gregory, A. M., Tynelius, P., Baker, L. A., Tuvblad, C., Bayasgalan, G., Narandalai, D., Lichtenstein, P., Spector, T. D., Mangino, M., Lachance, G., Bartels, M., Van Beijsterveldt, T. C., Willemsen, G., Alexandra Burt, S., Klump, K. L., Harris, J. R., Brandt, I., Nilsen, T. S., Krueger, R. F., McGue, M., Pahlen, S., Corley, R. P., Hjelmborg, J. V. B., Goldberg, J. H., Iwatani, Y., Watanabe, M., Honda, C., Inui, F., Rasmussen, F., Huibregtse, B. M., Boomsma, D. I., Sørensen, T. I. A., Kaprio, J., and Silventoinen, K.

Abstract

Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886-1994. Although genetic variance showed a generally increasing trend across the birth-year cohorts, heritability estimates (0.69-0.84 in men and 0.53-0.78 in women) did not present any clear pattern of secular changes. Comparing geographic-cultural regions (Europe, North America and Australia, and East Asia), total height variance was greatest in North America and Australia and lowest in East Asia, but no clear pattern in the heritability estimates across the birth-year cohorts emerged. Our findings do not support the hypothesis that heritability of height is lower in populations with low living standards than in affluent populations, nor that heritability of height will increase within a population as living standards improve.

Published
2016
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34. Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994

Author

University of Helsinki, Department of Social Research, University of Helsinki, Department of Public Health, University of Helsinki, Clinicum, Jelenkovic, Aline, Hur, Yoon-Mi, Sund, Reijo, Yokoyama, Y., Siribaddana, S. H., Hotopf, M., Sumathipala, A., Rijsdijk, F., Tan, Q., Zhang, D., Pang, Z., Aaltonen, Sari, Heikkilä, Kauko, Oncel, S. Y., Aliev, F., Rebato, E., Tarnoki, A. D., Tarnoki, D. L., Christensen, K., Skytthe, A., Kyvik, K. O., Silberg, J. L., Eaves, L. J., Maes, H. H., Cutler, T. L., Hopper, J. L., Ordonana, J. R., Sanchez-Romera, J. F., Colodro-Conde, L., Cozen, W., Hwang, A. E., Mack, T. M., Sung, J., Song, Y. M., Yang, S., Lee, K., Franz, C. E., Kremen, W. S., Lyons, M. J., Busjahn, A., Nelson, T. L., Whitfield, K. E., Kandler, C., Jang, K. L., Gatz, M., Butler, D. A., Stazi, M. A., Fagnani, C., D'Ippolito, C., Duncan, G. E., Buchwald, D., Derom, C. A., Vlietinck, R. F., Loos, R. J., Martin, N. G., Medland, S. E., Montgomery, G. W., Jeong, H. U., Swan, G. E., Krasnow, R., Magnusson, P. K., Pedersen, N. L., Dahl-Aslan, A. K., McAdams, T. A., Eley, T. C., Gregory, A. M., Tynelius, P., Baker, L. A., Tuvblad, C., Bayasgalan, G., Narandalai, D., Lichtenstein, P., Spector, T. D., Mangino, M., Lachance, G., Bartels, M., van Beijsterveldt, T. C., Willemsen, G., Burt, S. A., Klump, K. L., Harris, J. R., Brandt, I., Nilsen, T. S., Krueger, R. F., McGue, M., Pahlen, S., Corley, R. P., Hjelmborg, J. V., Goldberg, J. H., Iwatani, Y., Watanabe, M., Honda, C., Inui, F., Rasmussen, F., Huibregtse, B. M., Boomsma, D. I., Sorensen, T. I., Kaprio, Jaakko, Silventoinen, Karri, University of Helsinki, Department of Social Research, University of Helsinki, Department of Public Health, University of Helsinki, Clinicum, Jelenkovic, Aline, Hur, Yoon-Mi, Sund, Reijo, Yokoyama, Y., Siribaddana, S. H., Hotopf, M., Sumathipala, A., Rijsdijk, F., Tan, Q., Zhang, D., Pang, Z., Aaltonen, Sari, Heikkilä, Kauko, Oncel, S. Y., Aliev, F., Rebato, E., Tarnoki, A. D., Tarnoki, D. L., Christensen, K., Skytthe, A., Kyvik, K. O., Silberg, J. L., Eaves, L. J., Maes, H. H., Cutler, T. L., Hopper, J. L., Ordonana, J. R., Sanchez-Romera, J. F., Colodro-Conde, L., Cozen, W., Hwang, A. E., Mack, T. M., Sung, J., Song, Y. M., Yang, S., Lee, K., Franz, C. E., Kremen, W. S., Lyons, M. J., Busjahn, A., Nelson, T. L., Whitfield, K. E., Kandler, C., Jang, K. L., Gatz, M., Butler, D. A., Stazi, M. A., Fagnani, C., D'Ippolito, C., Duncan, G. E., Buchwald, D., Derom, C. A., Vlietinck, R. F., Loos, R. J., Martin, N. G., Medland, S. E., Montgomery, G. W., Jeong, H. U., Swan, G. E., Krasnow, R., Magnusson, P. K., Pedersen, N. L., Dahl-Aslan, A. K., McAdams, T. A., Eley, T. C., Gregory, A. M., Tynelius, P., Baker, L. A., Tuvblad, C., Bayasgalan, G., Narandalai, D., Lichtenstein, P., Spector, T. D., Mangino, M., Lachance, G., Bartels, M., van Beijsterveldt, T. C., Willemsen, G., Burt, S. A., Klump, K. L., Harris, J. R., Brandt, I., Nilsen, T. S., Krueger, R. F., McGue, M., Pahlen, S., Corley, R. P., Hjelmborg, J. V., Goldberg, J. H., Iwatani, Y., Watanabe, M., Honda, C., Inui, F., Rasmussen, F., Huibregtse, B. M., Boomsma, D. I., Sorensen, T. I., Kaprio, Jaakko, and Silventoinen, Karri

Abstract

Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886-1994. Although genetic variance showed a generally increasing trend across the birth-year cohorts, heritability estimates (0.69-0.84 in men and 0.53-0.78 in women) did not present any clear pattern of secular changes. Comparing geographic-cultural regions (Europe, North America and Australia, and East Asia), total height variance was greatest in North America and Australia and lowest in East Asia, but no clear pattern in the heritability estimates across the birth-year cohorts emerged. Our findings do not support the hypothesis that heritability of height is lower in populations with low living standards than in affluent populations, nor that heritability of height will increase within a population as living standards improve.

Published
2016

35. Twins and family contribution to genetics of celiac disease

Author

GRECO, LUIGI, Stazi, M., Clerget Darpoux, F., Greco, Luigi, Stazi, M., and Clerget Darpoux, F.

Subjects
Pediatrics, Perinatology and Child Health
Abstract

Celiac disease has a multifactorial background, but there is no doubt that the genetic component contributes most to the disease. The incidence within families is ten times the incidence among unrelated individuals. Concordance between monozygotic twins is more than 80%, as compared to the relatively low concordance (20%. Copyright © 2008 S. Karger AG, Basel.

Published
2008

36. High risk of congenital hypothyroidism in multiple pregnancies

Author

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

37. The CODATwins Project: the cohort description of collaborative project of development of anthropometrical measures in twins to study macro-environmental variation in genetic and environmental effects on anthropometric traits

Author

Silventoinen, K., Jelenkovic, A., Sund, R., Honda, C., Aaltonen, S., Yokoyama, Y., Tarnoki, AD, Tarnoki, D. L., Ning, F., Ji, F., Pang, Z., Ordoñana, J. R., Sánchez-Romera, J. F., Colodro-Conde, L., Burt, S. A., Klump, K. L., Medland, S. E., Montgomery, G. W., Kandler, C., McAdams, T. A., Eley, T. C., Gregory, A. M., Saudino, K. J., Dubois, L., Boivin, M., Haworth, C. M. A., Plomin, R., Öncel, S. Y., Aliev, F., Stazi, M. A., Fagnani, C., D'Ippolito, C., Craig, J., Saffery, R., Siribaddana, S. H., Hotopf, M., Sumathipala, A., Spector, T., Mangino, M., Lachance, G., Gatz, M., Butler, D. A., Bayasgalan, G., Narandalai, D., Freitas, D. L., Maia, J. A., Harden, K. P., Tucker-Drob, E. M., Christensen, K., Skytthe, A., Kyvik, K. O., Hong, C., Chong, Y., Derom, C. A., Vlietinck, R. F., Loos, R. J. F., Cozen, W., Hwang, A. E., Mack, T. M., He, M., Ding, X., Chang, B., Silberg, J. L., Eaves, L. J., Maes, H. H., Cutler, T. L., Hopper, J. L., Aujard, K., Magnusson, P. K. E., Pedersen, N. L., Aslan, A. K. D., Song, Y.- M., Yang, S., Lee, K., Baker, L. A., Tuvblad, C., Bjerregaard-Andersen, M., Beck-Nielsen, H., Sodemann, M., Heikkilä, K., Tan, Q., Zhang, D., Swan, G. E., Krasnow, R., Jang, K. L., Knafo-Noam, A., Mankuta, D., Abramson, L., Lichtenstein, P., Krueger, R. F., McGue, M., Pahlen, S., Tynelius, P., Duncan, G. E., Buchwald, D., Corley, R. P., Huibregtse, B. M., Nelson, T. L., Whitfield, K. E., Franz, C. E., Kremen, W. S., Lyons, M. J., Ooki, S., Brandt, I., Nilsen, T. S., Inui, F., Watanabe, M., Bartels, M., van Beijsterveldt, T. C. E. M., Wardle, J., Llewellyn, C. H., Fisher, A., Rebato, E., Martin, N. G., Iwatani, Y., Hayakawa, K., Rasmussen, F., Sung, J., Harris, J. R., Willemsen, G., Busjahn, A., Goldberg, J. H., Boomsma, D. I., Hur, Y. - M., Sørensen, T. I. A., Kaprio, J., Silventoinen, K., Jelenkovic, A., Sund, R., Honda, C., Aaltonen, S., Yokoyama, Y., Tarnoki, AD, Tarnoki, D. L., Ning, F., Ji, F., Pang, Z., Ordoñana, J. R., Sánchez-Romera, J. F., Colodro-Conde, L., Burt, S. A., Klump, K. L., Medland, S. E., Montgomery, G. W., Kandler, C., McAdams, T. A., Eley, T. C., Gregory, A. M., Saudino, K. J., Dubois, L., Boivin, M., Haworth, C. M. A., Plomin, R., Öncel, S. Y., Aliev, F., Stazi, M. A., Fagnani, C., D'Ippolito, C., Craig, J., Saffery, R., Siribaddana, S. H., Hotopf, M., Sumathipala, A., Spector, T., Mangino, M., Lachance, G., Gatz, M., Butler, D. A., Bayasgalan, G., Narandalai, D., Freitas, D. L., Maia, J. A., Harden, K. P., Tucker-Drob, E. M., Christensen, K., Skytthe, A., Kyvik, K. O., Hong, C., Chong, Y., Derom, C. A., Vlietinck, R. F., Loos, R. J. F., Cozen, W., Hwang, A. E., Mack, T. M., He, M., Ding, X., Chang, B., Silberg, J. L., Eaves, L. J., Maes, H. H., Cutler, T. L., Hopper, J. L., Aujard, K., Magnusson, P. K. E., Pedersen, N. L., Aslan, A. K. D., Song, Y.- M., Yang, S., Lee, K., Baker, L. A., Tuvblad, C., Bjerregaard-Andersen, M., Beck-Nielsen, H., Sodemann, M., Heikkilä, K., Tan, Q., Zhang, D., Swan, G. E., Krasnow, R., Jang, K. L., Knafo-Noam, A., Mankuta, D., Abramson, L., Lichtenstein, P., Krueger, R. F., McGue, M., Pahlen, S., Tynelius, P., Duncan, G. E., Buchwald, D., Corley, R. P., Huibregtse, B. M., Nelson, T. L., Whitfield, K. E., Franz, C. E., Kremen, W. S., Lyons, M. J., Ooki, S., Brandt, I., Nilsen, T. S., Inui, F., Watanabe, M., Bartels, M., van Beijsterveldt, T. C. E. M., Wardle, J., Llewellyn, C. H., Fisher, A., Rebato, E., Martin, N. G., Iwatani, Y., Hayakawa, K., Rasmussen, F., Sung, J., Harris, J. R., Willemsen, G., Busjahn, A., Goldberg, J. H., Boomsma, D. I., Hur, Y. - M., Sørensen, T. I. A., and Kaprio, J.

Published
2015

39. La biobanca di piccolipiu’: una risorsa italiana per la salute dei bambini

Author

Nisticò, Lorenza, Penna, Luana, Toccaceli, Virgilia, Brescianini, Sonia, Medda, Emanuela, Farchi, Sara, Culasso, Martina, Richiardi, Lorenzo, Merletti, Franco, Rasulo, Assunta, Nullm, nullFiorini Laura, Grasso, CHIARA CELESTINA, Trevisan, Morena, Fiano, Valentina, Todros, Tullia, Luca, Ronfani, Vecchi Brumatti Liza, Volpi, Patrizia, Piscianz, Elisa, Tognin, Veronica, Bin, Maura, Loganes, Claudia, Montelatici, Veronica, Poggesi, Giulia, Rapisardi, Gherardo, Mugelli, Isabella, Frizzi, Aldo, Gagliardi, Luigi, Martini, Valentina, De Bartolo Paolo, Fioritto, Alessandra, Di Bernardini Fulvio, Nibbi, Alberto, Baccaro, Giuseppe, Bernardini, Tommaso, La Rosa Francesca, Badaloni, Maria, Pallanch, Carmen, Fede, Antonio, Forastiere, Francesco, Porta, Daniela, Antonietta, Stazi M., and Di Lallo Domenico

Published
2013

40. 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

42. 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

44. Research biobanks in pediatrics:Ethical, legal and social issues under the lens of health professionals

Author

Salvaterra, E., Giorda, R., Bassi, M. T., Borgatti, R., Knudsen, L., Martinuzzi, A., Nobile, M., Pozzoli, U., Ramelli, G. P., Reni, G. L., Rivolta, D., Stazi, M. A., Strazzer, S., Thijs, C., Toccaceli, V., Trabacca, A., Turconi, A. C., Zanini, S., Zucca, C., Bresolin, N., Lenzi, L., Salvaterra, E., Giorda, R., Bassi, M. T., Borgatti, R., Knudsen, L., Martinuzzi, A., Nobile, M., Pozzoli, U., Ramelli, G. P., Reni, G. L., Rivolta, D., Stazi, M. A., Strazzer, S., Thijs, C., Toccaceli, V., Trabacca, A., Turconi, A. C., Zanini, S., Zucca, C., Bresolin, N., and Lenzi, L.

Abstract

Over the last five years, the use of biological materials and data derived from children for research purposes has solicited intense debates within the ethical community internationally. Whereas the reflections on ethical, legal and social issues of biobanks storing newborn blood samples for therapeutic aims have started earlier - especially in relation to the development of both public and private cord blood banks - the attention for the ethical, legal and social aspects of pediatric research biobanks has emerged later in light of the pioneering debates on the ethical aspects of adult biorepositories. Nowadays, children biobanks are discussed in number of papers emphasizing the need for a special attention to the unique issues that they raise. This chapter offers a reading of typical ethical, legal and social issues related to children research biobanks viewed under the lens of health professionals involved in pediatric biobanking processes. Although it is limited to the views of European health professionals, it could serve as starting point for broader analyses comprising other geographically or culturally based communities.

Published
2014

45. The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism

Author

Olivieri, A., Altamura, R., Angeloni, U., Antonozzi, I., Baserga, M., Berardi, R., Bernasconi, S., Bona, G., Bucci, I., Burroni, M., Calaciura, F., Caldarera, R., Cappa, M., Caruso, U., Casini, M. R., Cassio, A., Cavallo, L., Cerone, R., Cesaretti, G., Cherubini, V., Chiarelli, F., Chiumello, G., Cicchetti, M., Ciccio', M. P., Cicognani, A., Coppola, A., Corbetta, C., Cordova, R., Correra, A., Costa, P., Dammacco, F., Sala, D., De Luca, F., De Santis, C., Di Maio, S., Gallicchio, G., Gastaldi, R., Grasso, G., Gurrado, R., Lasciarrea, L., Lelli, A., Leonardi, D., Liotta, A., Loche, S., Monaco, F., Lorini, R., Manente, G., Minelli, G., Moschini, L., Musaro', M. A., Narducci, T., Pagliardini, S., Palillo, L., Parlato, G., Pasquini, E., Peruzzi, L., Pinchera, Aldo, Pizzolante, M., Radetti, G., Righetti, F., Rizzo, A., Saggese, Giuseppe, Salerno, M. C., Salti, R., Sava, L., Scognamiglio, D., Stoppioni, V., Tato', L., Tonacchera, Massimo, Vigneri, R., Vignola, G., Vigone, M. C., Volta, C., Weber, G., Medda, E., Fazzini, C., De Angelis, S., Stazi, M. A., and Sorcini, M.

Subjects
Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Maternal and child health, lcsh:RJ1-570, lcsh:Pediatrics, Disease, Integrated approach, Perinatology and Child Health, medicine.disease, Congenital hypothyroidism, Transient hypothyroidism, Pediatrics, Perinatology and Child Health, medicine, Commentary, Christian ministry, National registry, business
Abstract

All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry of affected infants, which performs the nationwide surveillance of the disease. It was established in 1987 as a program of the Health Ministry and is coordinated by the Istituto Superiore di Sanità. The early diagnosis performed by the nationwide newborn screening programme, the prompt treatment and the appropriate clinical management of the patients carried out by the Follow-up Centres, and the surveillance of the disease performed by the National Register of infants with congenital hypothyroidism are the components of an integrated approach to the disease which has been successfully established in our country. The aim of the Register is to monitor efficiency and effectiveness of neonatal screening, to provide disease surveillance and to allow identification of possible aetiological risk factors for the disease. During the past twenty years the active and continuous collaboration between the Register and the Italian Screening and Follow up Centres for Congenital Hypothyroidism allowed to perform a standardization of screening procedures and considerable improvements in the time at starting treatment and in the dose of therapy. Furthermore, the large amount and the high quality of information collected in the Register provided a unique opportunity for research into the disease. This because data collected in the Register are highly representative as referred to the entire Italian population with congenital hypothyroidism. The results derived from the epidemiological studies performed in these years, by using the Register database, contributed to deepen the knowledge of congenital hypothyroidism, to start identifying the most important risk factors for the disease, and to orient molecular studies aimed at identifying new genes involved in the aetiology of this condition.

Published
2009

48. 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

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

Author

Ristori, G., Cannoni, S., Stazi, M. A., Et, Al, FOR THE ITALIAN STUDY GROUP ON MULTIPLE SCLEROSIS IN TWINS, Farina, D., Nives, M. E., Alessandra Lugaresi, G. RISTORI, S. CANNONI, M.A. STAZI, ET AL, FOR THE ITALIAN STUDY GROUP ON MULTIPLE SCLEROSIS IN TWINS, D FARINA, M.E. NIVES, and A. LUGARESI

Subjects
multiple sclerosis, twins
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

50. [Twins in biomedical research and the creation of the 'National Twin Registry']

Author

Cotichini, Rodolfo, Fagnani, C, Patriarca, V, Nisticò, L, Brescianini, S, Cirrincione, R, D'Ippolito, C, Pulciani, S, Figà Talamanca, L, Cannoni, S, Ristori, Giovanni, Salvetti, Marco, Tosi, R, and Stazi, M. A.

Subjects
Male, Databases, Factual, Italy, Twins, Humans, Female, Registries
Abstract

Twins are a valuable resource for the study of complex traits. The twin method is substantially based on the comparison between correlations and concordance in monozygotic (MZ) and dizygotic (DZ) twins and allows several applications in biomedical and molecular genetic research. It allows either the qualitative and quantitative evaluation of the influences that genetic and environmental factors exert on phenotypes or the estimation of trait variability. Moreover, classical genetic linkage analysis is more powerful if performed in DZ twins. However, the twin method has some pitfalls, such as the necessity that collected samples be representative of both twin and general population. For this reason, over the last few years, a number of Countries have established population-based twin registers, which guarantee the maximum level of representation and, consequently, are of extreme value for epidemiological studies. Italy is also implementing a national twin register. The following is the description of the procedure that led to the establishment of the Italian Twin Registry.

Published
2004

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