MBL2 polymorphisms screening in a regional Italian CF Center

J Cyst Fibros. 2005 Sep;4(3):189-91. doi: 10.1016/j.jcf.2005.04.001.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / metabolism*
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism
  • Disease Progression
  • Disease Susceptibility
  • Female
  • Forced Expiratory Volume / physiology
  • Gene Frequency
  • Genetic Markers
  • Genetic Testing*
  • Genotype
  • Humans
  • Italy
  • Male
  • Mannose-Binding Lectin / genetics*
  • Mannose-Binding Lectin / metabolism
  • Polymorphism, Genetic*
  • Pseudomonas Infections / complications
  • Pseudomonas Infections / microbiology
  • Pseudomonas aeruginosa / isolation & purification
  • Sputum / microbiology

Substances

  • CFTR protein, human
  • Genetic Markers
  • MBL2 protein, human
  • Mannose-Binding Lectin
  • Cystic Fibrosis Transmembrane Conductance Regulator