Variant mannose-binding lectin alleles are associated with celiac disease

Michele Boniotto, Laura Braida, Andrea Spanò, Doroti Pirulli, Valentina Baldas, Chiara Trevisiol, Tarcisio Not, Alberto Tommasini, Antonio Amoroso, Sergio Crovella

Research output: Contribution to journalArticlepeer-review

Abstract

In this study, we investigated the role of man-nose-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.

Original languageEnglish
Pages (from-to)596-598
Number of pages3
JournalImmunogenetics
Volume54
Issue number8
DOIs
Publication statusPublished - 2002

Keywords

  • Apoptosis
  • Autoimmunity
  • Celiac disease
  • MBL2 polymorphisms

ASJC Scopus subject areas

  • Immunology
  • Genetics

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