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Genetic Predisposition to Adverse Neurodevelopmental Outcome of Extremely Low Birth Weight Infants
Michael W Varner1, Elizabeth A Thom2, C Michael Cotten3
1Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah.
American Journal of Perinatology
|September 19, 2023
Summary
A genetic variant in SERPINE1 is linked to cerebral palsy (CP) or death in extremely low birth weight (ELBW) infants. This finding may help identify infants at higher risk for adverse neurodevelopmental outcomes.
Area of Science:
- Genetics
- Neuroscience
- Neonatal research
Background:
- Extremely low birth weight (ELBW) infants face high risks of cerebral palsy (CP) and developmental delays.
- Identifying genetic factors influencing neurodevelopmental outcomes in ELBW infants is crucial for early intervention.
Purpose of the Study:
- To investigate genetic variants associated with adverse neurodevelopmental outcomes in ELBW infants.
- To identify specific genes and single-nucleotide polymorphisms (SNPs) linked to CP, death, or developmental delay in this vulnerable population.
Main Methods:
- A candidate gene association study was performed on two ELBW infant cohorts (discovery and replication).
- 1,614 SNPs in 145 genes related to inflammation, angiogenesis, brain development, and oxidation were analyzed.
- Multivariable analyses adjusted for key epidemiological variables and multiple comparisons.
Main Results:
- A variant in the SERPINE1 gene was significantly associated with CP or death in both discovery (p=4.1×10⁻⁴) and replication (p=0.039) cohorts.
- The SERPINE1 gene encodes plasminogen activator inhibitor (PAI1) and is involved in inflammation and coagulation.
- 26 SNPs were selected for replication after initial analysis of 1,013 infants (452 cases, 561 controls).
Conclusions:
- A specific genetic variant in SERPINE1 is associated with an increased risk of CP or death in ELBW infants.
- This finding highlights the role of inflammation and coagulation pathways in neurodevelopmental outcomes.
- Further research into SERPINE1's role could lead to targeted preventative strategies for high-risk infants.
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