Association between mannose-binding lectin gene polymorphisms and necrotizing enterocolitis in preterm infants.

Area of Science:

• Immunology
• Neonatology
• Genetics

Background:

• Necrotizing enterocolitis (NEC) is a severe gastrointestinal disease affecting preterm infants.
• Mannose-binding lectin (MBL) plays a crucial role in innate immunity.
• MBL-2 gene polymorphisms can influence MBL serum levels and immune responses.

Purpose of the Study:

• To investigate the association between MBL-2 gene polymorphisms and MBL serum levels with NEC in preterm infants.
• To examine MBL expression in the bowel tissue of infants with NEC.
• To identify MBL-2 genotypes and serum levels as potential risk factors for NEC.

Main Methods:

• Retrospective cohort study including 107 preterm neonates (41 with NEC, 66 controls).
• Genotyping of MBL-2 promoter (-221) and exon 1 polymorphisms.
• Measurement of MBL serum levels via ELISA in a subset of infants.
• Immunohistochemical analysis of MBL expression in bowel specimens.

Main Results:

• MBL-2 genotypes associated with high MBL production (e.g., -221 Y allele, YY genotype) were more frequent in infants with severe NEC.
• MBL-2 YA/YA genotype was significantly associated with NEC in multivariate analysis (OR=3.03).
• Higher MBL serum levels (>400 ng/mL) on admission were more common in NEC infants; MBL was highly expressed in NEC bowel tissue.

Conclusions:

• MBL-2 genotypes linked to elevated MBL serum levels are a risk factor for NEC development in preterm infants.
• The presence and expression of MBL in bowel tissue suggest its involvement in NEC pathogenesis.
• These findings highlight MBL as a potential target for understanding and managing NEC.