Immunogenetics

, Volume 54, Issue 8, pp 596–598

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
Brief Communication

DOI: 10.1007/s00251-002-0504-2

Cite this article as:
Boniotto, M., Braida, L., Spanò, A. et al. Immunogenetics (2002) 54: 596. doi:10.1007/s00251-002-0504-2

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.

MBL2 polymorphisms Celiac disease Autoimmunity Apoptosis 

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Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Michele Boniotto
    • 1
  • Laura Braida
    • 1
  • Andrea Spanò
    • 2
  • Doroti Pirulli
    • 1
  • Valentina Baldas
    • 2
  • Chiara Trevisiol
    • 2
  • Tarcisio Not
    • 2
  • Alberto Tommasini
    • 3
  • Antonio Amoroso
    • 1
  • Sergio Crovella
    • 1
  1. 1.Genetic Section, Dipartimento di Scienze della Riproduzione e dello Sviluppo, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy
  2. 2.Pediatric Unit, Dipartimento di Scienze della Riproduzione e dello Sviluppo, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy
  3. 3.Burlo Garofolo Children's Hospital, Via dell'Istria 65/1, 34137 Trieste, Italy

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