title: Variant mannose-binding lectin alleles are associated with celiac disease.
abstract: In this study, we investigated the role of mannose-binding lectin (MBL) in celiac disease, by performing genotype analysis for the three point mutations in the first exon of the gene in 117 Italian celiac patients (characterized by flat biopsy and positive for anti-endomysium antibody and human transglutaminase antibodies) and 130 pan-ethnic healthy controls. The frequency of homozygous mutant 0/ 0 was significantly higher in the 117 Italian celiac patients (0.13) than in the 130 pan-ethnic healthy controls (0.05; P=0.0405). An increased frequency of homozygous 0/0 allele was found among patients with celiac disease compared with controls. These results suggest an involvement of MBL in the pathophysiology of celiac disease.
authors.affiliation: Genetic Section, Dipartimento di Scienze della Riproduzione e dello Sviluppo, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Boniotto
authors.forename: Laura
authors.initials: L
authors.lastname: Braida
authors.forename: Andrea
authors.initials: A
authors.lastname: Spanò
authors.forename: Doroti
authors.initials: D
authors.lastname: Pirulli
authors.forename: Valentina
authors.initials: V
authors.lastname: Baldas
authors.forename: Chiara
authors.initials: C
authors.lastname: Trevisiol
authors.forename: Tarcisio
authors.initials: T
authors.lastname: Not
authors.forename: Alberto
authors.initials: A
authors.lastname: Tommasini
authors.forename: Antonio
authors.initials: A
authors.lastname: Amoroso
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000483:Alleles; D002446:Celiac Disease / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D037601:Mannose-Binding Lectin / Q000031:analogs & derivatives* / Q000235:genetics*; D017354:Point Mutation
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin