What is the role of genetics in the etiology of necrotizing enterocolitis (NEC)?

Updated: Dec 27, 2017
  • Author: Shelley C Springer, JD, MD, MSc, MBA, FAAP; Chief Editor: Muhammad Aslam, MD  more...
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Answer

Twin studies have suggested susceptibility to NEC may be affected by a genetic component. [16] Given the frequent subtle and nonspecific nature of presenting symptoms, identification of a biomarker for infants at higher risk of developing necrotizing enterocolitis could have significant impact on morbidity and mortality rates.

Animal models have focused on single-nucleotide polymorphisms (SNPs) that negatively affect innate immune responses to bacterial antigens. One such SNP, discovered in the gene that encodes carbamoyl-phosphate synthetase I (the rate-limiting enzyme for the production of arginine), has been reportedly associated with an increased risk of NEC. [17]

A more recent study of 184 neonates reported an association between the functional SNP IL-6 (rs1800795) and the development of NEC (6-fold increase) as well as an increased severity of NEC (7-fold increase in stage III disease) in white neonates. [18] There was also an association between TRIM21 (rs660) (increased incidence) and TGFβ-1 (rs2241712) (decreased incidence) with NEC- related perforation. [18]

Infants with distinct genotypes of various cytokines have also been associated with higher frequencies of NEC. Given the interplay of inherent, infectious, ischemic, inflammatory, iatrogenic, and environmental factors, alterations in expression of proinflammatory and/or anti-inflammatory mediators may play a role in neonatal susceptibility to the disease. [19, 20]


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