title: MBL2 gene polymorphisms increase the risk of adverse neurological outcome in preterm infants: a preliminary prospective study.
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).
  
  
  CONCLUSIONS
  Preterm infants who are carriers of MBL2 exon-1 OO genotype are exposed to an increased risk of adverse neurological outcomes.
authors.affiliation: Department of Neonatology, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Auriti
authors.affiliation: Rheumatologic Research Laboratory, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
authors.forename: Giusi
authors.initials: G
authors.lastname: Prencipe
authors.affiliation: Department of Developmental and Social Psycology, La Sapienza University, Rome, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Caravale
authors.affiliation: Department of Developmental Psychology, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
authors.forename: Maria Franca
authors.initials: MF
authors.lastname: Coletti
authors.affiliation: Department of Neonatology, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Ronchetti
authors.affiliation: Department of Neonatology, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
authors.forename: Fiammetta
authors.initials: F
authors.lastname: Piersigilli
authors.affiliation: Department of Pediatrics, Institute Anna Mayer, Florence, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Azzari
authors.affiliation: Epidemiology Unit, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
authors.forename: Vincenzo M
authors.initials: VM
authors.lastname: Di Ciommo
mesh_terms: D016022:Case-Control Studies; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D008137:Longitudinal Studies; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D011446:Prospective Studies; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin