eagle-i The Ohio State UniversityThe Ohio State University

Prediction of short-term neonatal complications in preterm infants using exome-wide genetic variation and gestational age: a pilot study

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Resource Type

  1. Journal article


  1. Resource Description
    Background: Preterm birth is the leading cause of mortality and morbidity in young children, with over a million deaths per year worldwide arising from neonatal complications (NCs). NCs are moderately heritable although the genetic causes are largely unknown. Therefore, we investigated the impact of accumulated genetic variation (burden) on NCs in non-Hispanic White (NHW) and non-Hispanic Black (NHB) preterm infants. Methods: We sequenced 182 exomes from infants with gestational ages from 26 to 31 weeks. These infants were cared for in the same time period and hospital environment. Eighty-one preterm infants did not develop NCs, whereas 101 developed at least one severe complication. We measured the effect of burden at the single-gene and exome-wide levels and derived a polygenic risk score (PRS) from the top 10 genes to predict NCs. Results: Burden across the exome was associated with NCs in NHW (p = 0.05) preterm infants suggesting that multiple genes influence susceptibility. In a post hoc analysis, we find that PRS alone predicts NCs (AUC = 0.67) and that PRS is uncorrelated with GA ([Formula: see text] = 0.05; p = 0.53). When PRS and GA at birth are combined, the AUC is 0.87. Conclusions: Our results support the hypothesis that genetic burden influences NCs in NHW preterm infants.
  2. Website(s)
  3. PubMed ID
    PMID: 32023625
  4. Part of Collection
    Center for Clinical and Translational Science (CCTS)
Provenance Metadata About This Resource Record

    Copyright © 2016 by the President and Fellows of Harvard College
    The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016