title: Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study.
abstract: OBJECTIVE
  Mannose-binding lectin (MBL2) is a collectin molecule able to activate the complement system and the subsequent inflammatory mechanisms. Several MBL2 genetic variants have been described, including the six variants studied in this report, which are those analyzed in most detail in the medical literature.
  
  
  METHODS
  The present study analyzes the prevalence of MBL2 gene variants in preterm newborns and associates individual genotypes with pulmonary outcome variables. All polymorphisms were analyzed by means of a commercially available reverse dot-blot kit.
  
  
  METHODS
  Tertiary neonatal intensive care unit.
  
  
  METHODS
  Seventy-five consecutive preterm newborns.
  
  
  RESULTS
  Two variants were particularly analyzed: -550G > C and R52C. The first one is known to be associated with lower protein synthesis when included in specific haplotypes. The homozygous and heterozygous -550G > C mutations were significantly associated with protective effects regarding different lung outcome variables, including shorter duration of mechanical ventilation, hours of continuous positive airway pressure and lower number of hemotransfusions. In contrast, the heterozygous R52C mutation was associated with unfavorable outcome, including higher bronchopulmonary dysplasia prevalence. Multivariate logistic regression analysis showed that these associations were independent of gestational age and birth weight. In addition, four groups of patients were defined on the basis of haplotype combinations. Those known to be associated with low serum MBL2 levels were linked to a better outcome in terms of factors such as hours of mechanical ventilation, continuous positive airway pressure, number of hemotransfusions and bronchopulmonary disease development.
  
  
  CONCLUSIONS
  The four haplotype combination groups may have a potential diagnostic use as opposite risk factors for lung disease of prematurity.
authors.affiliation: Laboratory of Clinical Molecular Biology, Institute of Biochemistry & Clinical Biochemistry, School of Medicine, Catholic University, Largo F. Vito 1, 00168, Rome, Italy. ecapoluongo@rm.unicatt.it
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
authors.forename: Giovanni
authors.initials: G
authors.lastname: Vento
authors.forename: Sandro
authors.initials: S
authors.lastname: Rocchetti
authors.forename: Emiliano
authors.initials: E
authors.lastname: Giardina
authors.forename: Paola
authors.initials: P
authors.lastname: Concolino
authors.forename: Cecilia
authors.initials: C
authors.lastname: Sinibaldi
authors.forename: Concetta
authors.initials: C
authors.lastname: Santonocito
authors.forename: Valentina
authors.initials: V
authors.lastname: Vendettuoli
authors.forename: Milena
authors.initials: M
authors.lastname: Tana
authors.forename: Chiara
authors.initials: C
authors.lastname: Tirone
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Costantino
authors.initials: C
authors.lastname: Romagnoli
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.forename: Bruno
authors.initials: B
authors.lastname: Giardina
authors.forename: Franco
authors.initials: F
authors.lastname: Ameglio
mesh_terms: D001724:Birth Weight; D001803:Blood Transfusion; D005260:Female; D005838:Genotype; D005865:Gestational Age; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D016014:Linear Models; D016015:Logistic Models; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D015999:Multivariate Analysis; D010865:Pilot Projects; D011110:Polymorphism, Genetic; D012121:Respiration, Artificial; D012127:Respiratory Distress Syndrome, Newborn / Q000453:epidemiology* / Q000235:genetics
chemical_list: D037601:Mannose-Binding Lectin