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An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: A multicentre study

2009; Elsevier BV; Volume: 41; Issue: 11 Linguagem: Inglês

10.1016/j.dld.2009.03.012

1878-3562

Rossella Tomaiuolo, D. Degiorgio, Domenico Coviello, Andrea Baccarelli, Ausilia Elce, Valeria Raia, Valentina Motta, Manuela Seia, Giuseppe Castaldo, Carla Colombo,

Complement system in diseases

Cystic fibrosis is the most common lethal recessive disorder among Caucasians. Over 1500 mutations have been identified in cystic fibrosis transmembrane conductance regulator disease-gene so far. A large variability of the clinical phenotype has been observed both in cystic fibrosis patients bearing the same genotype, and in affected sibpairs. Thus, genes inherited independently from cystic fibrosis transmembrane conductance regulator could modulate the clinical expression of cystic fibrosis.We analysed some putative modifier genes of liver cystic fibrosis phenotype (serpin 1, hemochromatosis, transferrin receptor 2, ferroportin 1, mannose binding lectin and adenosine triphospate-binding cassette subfamily B member 4) in 108 unrelated cystic fibrosis patients with and without liver involvement.HYPD mannose binding lectin haplotype was significantly (p T variant of adenosine triphospate-binding cassette subfamily B member 4 gene was significantly (p T adenosine triphospate-binding cassette subfamily B member 4 variant may enhance the activity of the protein and thus exert a protective effect toward liver disease.