title: Association between mannose-binding lectin gene polymorphisms and necrotizing enterocolitis in preterm infants.
abstract: OBJECTIVE
  The aim of the present study was to evaluate whether polymorphisms of the mannose-binding lectin (MBL-2) gene and MBL serum levels on admission to neonatal intensive care unit are associated with necrotizing enterocolitis (NEC) in preterm infants and to verify MBL expression in NEC bowels.
  
  
  METHODS
  In this retrospective cohort study, 107 neonates (41 with NEC and 66 controls) were included. MBL-2 genotyping for the promoter polymorphism -221 and for the exon 1 variant alleles at codons 52, 54, and 57 was performed. MBL levels were determined by enzyme-linked immunosorbent assay in 55 infants. Immunohistochemical staining for MBL expression was performed on bowel specimens. The main study outcome was severe NEC (Bell stages II/III).
  
  
  RESULTS
  The -221 Y allele and the MBL-2 YY genotype were more frequent in neonates with severe NEC than in controls (P = 0.04 and P = 0.004, respectively). In the multivariate analysis, the MBL-2 YA/YA genotype was associated with NEC (odds ratio = 3.03, 95% confidence interval 1.13%-8.13%, P = 0.024). Neonates with NEC had MBL level on admission >400 ng/mL more frequently than controls (P = 0.043). Among neonates with severe NEC, the deceased neonates were carriers of high or intermediate producing MBL-2 genotypes (P = 0.035). Finally, MBL was highly expressed in intestinal tissue from infants with NEC.
  
  
  CONCLUSIONS
  MBL-2 genotypes associated with high MBL serum levels represent a risk factor for NEC. This finding, together with the MBL expression in bowel tissue, supports a role for MBL in the pathogenesis of NEC.
authors.affiliation: Laboratory of Rheumatology, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Giusi
authors.initials: G
authors.lastname: Prencipe
authors.forename: Chiara
authors.initials: C
authors.lastname: Azzari
authors.forename: Maria
authors.initials: M
authors.lastname: Moriondo
authors.forename: Rita
authors.initials: R
authors.lastname: Devito
authors.forename: Rita
authors.initials: R
authors.lastname: Inglese
authors.forename: Marco
authors.initials: M
authors.lastname: Pezzullo
authors.forename: Fiammetta
authors.initials: F
authors.lastname: Piersigilli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Trucchi
authors.forename: Fabrizio
authors.initials: F
authors.lastname: De Benedetti
authors.forename: Cinzia
authors.initials: C
authors.lastname: Auriti
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D003062:Codon; D020345:Enterocolitis, Necrotizing / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature / Q000097:blood / Q000378:metabolism*; D007363:Intensive Care Units, Neonatal; D007413:Intestinal Mucosa / Q000378:metabolism*; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D015999:Multivariate Analysis; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012189:Retrospective Studies; D012307:Risk Factors; D012720:Severity of Illness Index
chemical_list: D003062:Codon; D037601:Mannose-Binding Lectin