Journal of Cystic Fibrosis
Volume 4, Issue 3 , Pages 189-191, September 2005

MBL2 polymorphisms screening in a regional Italian CF Center

  • Chiara Trevisiol

      Affiliations

    • Paediatrics Unit, Department of Reproductive and Developmental Sciences, Trieste University, Italy
  • ,
  • Michele Boniotto

      Affiliations

    • Genetic Unit, Department of Reproductive and Developmental Sciences, Trieste University, Via dell'Istria 65/1, 34137 Trieste, Italy
    • Genetics Service, Children Hospital Burlo Garofolo, Trieste, Italy
  • ,
  • Luisella Giglio

      Affiliations

    • Paediatrics Unit, Children Hospital Burlo Garofolo, Trieste, Italy
  • ,
  • Furio Poli

      Affiliations

    • Paediatrics Unit, Children Hospital Burlo Garofolo, Trieste, Italy
  • ,
  • Marcello Morgutti

      Affiliations

    • Genetics Service, Children Hospital Burlo Garofolo, Trieste, Italy
  • ,
  • Sergio Crovella

      Affiliations

    • Genetic Unit, Department of Reproductive and Developmental Sciences, Trieste University, Via dell'Istria 65/1, 34137 Trieste, Italy
    • Genetics Service, Children Hospital Burlo Garofolo, Trieste, Italy
    • Corresponding Author InformationCorresponding author. Genetic Unit, Department of Reproductive and Developmental Sciences, Trieste University, Via dell'Istria 65/1, 34137 Trieste, Italy. Tel.: +39 403785538; fax: +39 403785540.

Received 10 March 2005; received in revised form 8 April 2005; accepted 8 April 2005.

Abstract 

We performed MBL2 genotyping in 47 CF patients—cared of at the regional CF Centre of Trieste—trying to establish a correlation within allelic variants of MBL2 and modification of patients' clinical outcome. FEV1 values were significantly lowered and a significantly earlier age at onset of Pseudomonas aeruginosa colonisation was found in CF patients with at least one MBL2 variant.

Keywords: Mannose-binding lectin, MBL2, Cystic fibrosis, Modifier genes, Respiratory infections

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PII: S1569-1993(05)00033-0

doi:10.1016/j.jcf.2005.04.001

Journal of Cystic Fibrosis
Volume 4, Issue 3 , Pages 189-191, September 2005