RGD Reference Report - An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. - Rat Genome Database

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

Authors: Tomaiuolo, R  Degiorgio, D  Coviello, DA  Baccarelli, A  Elce, A  Raia, V  Motta, V  Seia, M  Castaldo, G  Colombo, C 
Citation: Tomaiuolo R, etal., Dig Liver Dis. 2009 Nov;41(11):817-22. Epub 2009 May 20.
RGD ID: 4889446
Pubmed: PMID:19467940   (View Abstract at PubMed)
DOI: DOI:10.1016/j.dld.2009.03.012   (Journal Full-text)

BACKGROUND: 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. METHODS: 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. RESULTS: HYPD mannose binding lectin haplotype was significantly (p<0.05) more frequent in cystic fibrosis patients with liver disease versus those without liver disease. This haplotype already related to a more severe pulmonary cystic fibrosis phenotype, is associated to a reduced MBL immunological activity. The c.834-66G>T variant of adenosine triphospate-binding cassette subfamily B member 4 gene was significantly (p<0.05) less frequent in cystic fibrosis patients with liver disease as compared to those with no liver disease. CONCLUSIONS: The HYPD mannose binding lectin haplotype may predispose a subgroup of cystic fibrosis patients to a more severe liver involvement impairing the local defence mechanisms whereas the c.834-66G>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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
liver cirrhosis susceptibilityIAGP 4889446associated with cystic fibrosis and DNA:SNP:exon:c.504T>C(human)RGD 
liver cirrhosis susceptibilityISOABCB4 (Homo sapiens)4889446; 4889446associated with cystic fibrosis and DNA:SNP:exon:c.504T>C(human)RGD 
liver disease  IAGP 4889446associated with Cystic Fibrosis more ...RGD 
liver disease  ISOMBL2 (Homo sapiens)4889446; 4889446associated with Cystic Fibrosis more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Abcb4  (ATP binding cassette subfamily B member 4)
Mbl2  (mannose binding lectin 2)

Genes (Mus musculus)
Abcb4  (ATP-binding cassette, sub-family B member 4)
Mbl2  (mannose-binding lectin (protein C) 2)

Genes (Homo sapiens)
ABCB4  (ATP binding cassette subfamily B member 4)
MBL2  (mannose binding lectin 2)


Additional Information