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

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 th...

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Bibliographic Details
Published in:American journal of medical genetics 2001-02, Vol.98 (4), p.294-297
Main Authors: Castaldo, Giuseppe, Fuccio, Antonella, Salvatore, Donatello, Raia, Valeria, Santostasi, Teresa, Leonardi, Salvatore, Lizzi, Natalia, Rosa, Mario La, Rigillo, Nicola, Salvatore, Francesco
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
cystic fibrosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Family Health
Female
Gastroenterology. Liver. Pancreas. Abdomen
Gene Expression
Genotype
genotype/phenotype correlation
Humans
Liver - metabolism
Liver - pathology
liver expression
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical sciences
modifier genes
Mutation
Other diseases. Semiology
Phenotype
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Summary: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.
ISSN:0148-7299
1096-8628
DOI:10.1002/1096-8628(20010201)98:4<294::AID-AJMG1097>3.0.CO;2-K