Abstract
Background:
As described in animal models, the lectin-complement pathway is central to the propagation of ischemia–reperfusion injuries in many tissues, including the brain. Similarly, it might affect the genesis of brain damage in preterm infants. MBL2 gene single-nucleotide polymorphisms (SNPs), regulating mannose-binding lectin (MBL) serum levels, could predict the risk of adverse neurological outcome in these infants.
Methods:
To evaluate the association between SNPs of the MBL2 gene and long-term neurological outcomes in preterm infants, 75 infants (gestational age (GA) ≤ 32 wk) were observed in a prospective longitudinal study and assessed by clinical and instrumental exams at 12 and 24 mo of corrected age (CA). They were genotyped for the promoter polymorphism -221 and for the exon-1 variant alleles (at codons 52, 54, and 57) of the MBL2 gene.
Results:
The MBL2 exon-1 OO genotype was more frequent in children with an adverse neurological outcome (5/35; 7%) than in controls (0/40; 0%), P = 0.045. The risk of intraventricular hemorrhage in carriers of the genotype OO was marked, without reaching statistical significance (odds ratio: 8.67; 95% confidence interval: 0.87–86.06; P = 0.07).
Conclusion:
Preterm infants who are carriers of MBL2 exon-1 OO genotype are exposed to an increased risk of adverse neurological outcomes.
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Auriti, C., Prencipe, G., Caravale, B. et al. MBL2 gene polymorphisms increase the risk of adverse neurological outcome in preterm infants: a preliminary prospective study. Pediatr Res 76, 464–469 (2014). https://doi.org/10.1038/pr.2014.118
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DOI: https://doi.org/10.1038/pr.2014.118