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4. Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution

Author

RENDINE, S., primary, CALAFELL, F., additional, CAPPELLO, N., additional, GAGLIARDINI, R., additional, CARAMIA, G., additional, RIGILLO, N., additional, SILVETTI, M., additional, ZANDA, M., additional, MIANO, A., additional, BATTISTINI, F., additional, MARIANELLI, L., additional, TACCETTI, G., additional, DIANA, M. C., additional, ROMANO, L., additional, ROMANO, C., additional, GIUNTA, A., additional, PADOAN, R., additional, PIANAROLI, A., additional, RAIA, V., additional, DE RITIS, G., additional, BATTISTINI, A., additional, GRZINCICH, G., additional, JAPICHINO, L., additional, PARDO, F., additional, ANTONELLI, M., additional, QUATTRUCCI, S., additional, LUCIDI, V., additional, CASTRO, M., additional, SANTINI, B., additional, CASTELLO, M., additional, GUANTI, G., additional, LEONI, G. B., additional, CAO, A., additional, TOFFOLI, C., additional, LUCCI, E., additional, VULLO, C., additional, TORRICELLI, F., additional, SBERNINI, F., additional, ROMEO, G., additional, RONCHETTO, P., additional, SEIA, M., additional, ROSSI, A., additional, FERRARI, M., additional, CREMONESI, L., additional, SALVATORE, F., additional, CASTALDO, G., additional, D'ALCAMO, E., additional, MAGGIO, A., additional, SANGIUOLO, F., additional, DALLAPICCOLA, B., additional, MACERATESI, P., additional, BISCEGLIA, L., additional, GASPARINI, P., additional, CARBONARA, A., additional, BONIZZATO, A., additional, CABRINI, G., additional, BOMBIERI, C., additional, PIGNATTI, P. F., additional, BORGO, G., additional, CASTELLANI, C., additional, VILLANI, A., additional, ARDUINO, C., additional, SALVATORE, D., additional, MASTELLA, G., additional, and PIAZZA, A., additional

Published
1997
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5. Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype

Author

Salvatore Leonardi, Giuseppe Castaldo, N. Rigillo, Donatello Salvatore, Antonella Fuccio, Francesco Salvatore, Natalia Lizzi, Teresa Santostasi, Valeria Raia, Mario La Rosa, Castaldo, Giuseppe, Fuccio, Antonella, Salvatore, D, Raia, Valeria, Santostasi, T, Leonardi, S, Lizzi, N, LA ROSA, M, Rigillo, N, and Salvatore, Francesco

Subjects
Adult, Male, medicine.medical_specialty, Pancreatic disease, Adolescent, Cystic Fibrosis, Genotype, liver expression, genotype phenotype correlation, Cystic Fibrosis Transmembrane Conductance Regulator, Gene Expression, Biology, Cystic fibrosis, Genetic determinism, Therapy compliance, Liver disease, modifier genes, Internal medicine, medicine, Humans, ΔF508, cystic fibrosi, Genetics (clinical), Family Health, medicine.disease, Phenotype, Endocrinology, Liver, Mutation, Immunology, Female
Abstract

During a multicentric study conducted in Southern Italy, we studied five sets of cystic fibrosis siblings bearing a strongly discordant liver phenotype, three with genotype ΔF508/R553X, one with genotype ΔF508/unknown, and one with genotype unknown/unknown. The siblings of each set were raised in the same family environment, and there were no interpair differences in nutritional state or in therapy compliance. All siblings had pancreatic insufficiency and moderate respiratory expression. One sibling of each of the five sets was free of liver involvement, and the other had severe liver expression. Other causes of liver disease (viral, metabolic, and genetic other than cystic fibrosis) were ruled out. Therefore, environmental factors, nutritional state, and therapy compliance are not involved in the liver expression of cystic fibrosis in the five unrelated sibships. This suggests that modifier genes, inherited independently of the cystic fibrosis transmembrane regulator gene, could modulate the liver expression in cystic fibrosis patients. © 2001 Wiley-Liss, Inc.

Published
2001

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