MBL2 gene polymorphisms increase the risk of adverse neurological outcome in preterm infants: A preliminary prospective study

Cinzia Auriti, Giusi Prencipe, Barbara Caravale, Maria Franca Coletti, Maria Paola Ronchetti, Fiammetta Piersigilli, Chiara Azzari, Vincenzo M. Di Ciommo

Research output: Contribution to journalArticle


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.

Original languageEnglish
Pages (from-to)464-469
Number of pages6
JournalPediatric Research
Issue number5
Publication statusPublished - Nov 5 2014


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

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