Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates : a pilot study

• Published in: Intensive care medicine 2007-10, Vol.33 (10), p.1787-1794
• Main Authors: CAPOLUONGO, Ettore, VENTO, Giovanni, ZUPPI, Cecilia, ROMAGNOLI, Costantino, NOVELLI, Giuseppe, GIARDINA, Bruno, AMEGLIO, Franco, ROCCHETTI, Sandro, GIARDINA, Emiliano, CONCOLINO, Paola, SINIBALDI, Cecilia, SANTONOCITO, Concetta, VENDETTUOLI, Valentina, TANA, Milena, TIRONE, Chiara
• Format: Article
• Language: English
• Subjects: Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biochemistry; Biological and medical sciences; Birth Weight; Blood Transfusion; Emergency and intensive cardiocirculatory care. Cardiogenic shock. Coronary intensive care; Female; Genotype; Gestational Age; Haplotypes; Humans; Infant, Newborn; Infant, Premature; Infections; Intensive care; Intensive care medicine; Lectins; Linear Models; Logistic Models; Lung diseases; Male; Mannose-Binding Lectin - genetics; Medical sciences; Multivariate Analysis; Mutation; Newborn babies; Pilot Projects; Pneumology; Polymorphism, Genetic; Premature babies; Premature birth; Proteins; Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases; Respiration, Artificial; Respiratory Distress Syndrome, Newborn - epidemiology; Respiratory Distress Syndrome, Newborn - genetics; Risk factors; Ventilators
• ISSN: 0342-4642; 1432-1238
• DOI: 10.1007/s00134-007-0793-x

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. 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. Tertiary neonatal intensive care unit. Seventy-five consecutive preterm newborns. 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. The four haplotype combination groups may have a potential diagnostic use as opposite risk factors for lung disease of prematurity.