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Variant mannose-binding lectin alleles are associated with celiac disease

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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.

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Authors and Affiliations

  1. Genetic Section, Dipartimento di Scienze della Riproduzione e dello Sviluppo, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy, , , , ,

    Michele Boniotto, Laura Braida, Doroti Pirulli, Antonio Amoroso & Sergio Crovella

  2. Pediatric Unit, Dipartimento di Scienze della Riproduzione e dello Sviluppo, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy, , , , ,

    Andrea Spanò, Valentina Baldas, Chiara Trevisiol & Tarcisio Not

  3. Burlo Garofolo Children's Hospital, Via dell'Istria 65/1, 34137 Trieste, Italy, , , , ,

    Alberto Tommasini

Authors
  1. Michele Boniotto
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  2. Laura Braida
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  3. Andrea Spanò
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  4. Doroti Pirulli
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  5. Valentina Baldas
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  6. Chiara Trevisiol
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  7. Tarcisio Not
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  8. Alberto Tommasini
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  9. Antonio Amoroso
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  10. Sergio Crovella
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Boniotto, M., Braida, L., Spanò, A. et al. Variant mannose-binding lectin alleles are associated with celiac disease. Immunogenetics 54, 596–598 (2002). https://doi.org/10.1007/s00251-002-0504-2

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  • DOI: https://doi.org/10.1007/s00251-002-0504-2

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