MBL2 polymorphisms screening in a regional Italian CF Center.
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.
Trevisiol
Chiara
C
Paediatrics Unit, Department of Reproductive and Developmental Sciences, Trieste University, Italy.
Boniotto
Michele
M
Giglio
Luisella
L
Poli
Furio
F
Morgutti
Marcello
M
Crovella
Sergio
S
D000328:Adult; D003550:Cystic Fibrosis / Q000150:complications / Q000378:metabolism* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism; D018450:Disease Progression; D004198:Disease Susceptibility; D005260:Female; D005541:Forced Expiratory Volume / Q000502:physiology; D005787:Gene Frequency; D005819:Genetic Markers; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D011552:Pseudomonas Infections / Q000150:complications / Q000382:microbiology; D011550:Pseudomonas aeruginosa / Q000302:isolation & purification; D013183:Sputum / Q000382:microbiology
C505032:CFTR protein, human; D005819:Genetic Markers; C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin; D019005:Cystic Fibrosis Transmembrane Conductance Regulator