Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study.
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.
Capoluongo
Ettore
E
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
Vento
Giovanni
G
Rocchetti
Sandro
S
Giardina
Emiliano
E
Concolino
Paola
P
Sinibaldi
Cecilia
C
Santonocito
Concetta
C
Vendettuoli
Valentina
V
Tana
Milena
M
Tirone
Chiara
C
Zuppi
Cecilia
C
Romagnoli
Costantino
C
Novelli
Giuseppe
G
Giardina
Bruno
B
Ameglio
Franco
F
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
D037601:Mannose-Binding Lectin