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Genomics in the neonatal nursery: Focus on ROP
Mary Elizabeth Hartnett1, C Michael Cotten2
1John A. Moran Eye Center, University of Utah, 65 Mario Capecchi Dr, Salt Lake City, Utah 84132.
Insights
Genetic factors influence retinopathy of prematurity (ROP). A large study found BDNF gene variants associated with severe ROP, highlighting the need for further genetic research in premature infants.
Area of Science:
- Ophthalmology
- Genetics
- Neonatology
Background:
- Retinopathy of prematurity (ROP) is a complex condition influenced by genetic and environmental factors.
- Previous studies suggest associations between ROP and genetic variants in EPAS1, VEGF, SOD, and WNT family genes.
- Challenges in ROP genetic research include evolving management guidelines, disease rarity, resource variability, and a shortage of ROP-diagnosing ophthalmologists.
Purpose of the Study:
- To investigate genetic associations with severe retinopathy of prematurity (ROP).
- To address challenges in ROP genetic study design, including prematurity degree, epidemiologic factors, and multiple comparisons.
Main Methods:
- Conducted a large candidate gene study.
- Controlled for degree of prematurity, significant epidemiologic factors, and multiple comparisons.
- Focused on genetic variants within the intron of the BDNF gene.
Main Results:
- Identified variants within the intron of the BDNF gene associated with severe ROP.
- This finding emerged from a study that carefully controlled for key confounding variables.
Conclusions:
- The BDNF gene is implicated in the development of severe ROP.
- Future research should employ unbiased genetic techniques and in-depth studies of BDNF, including deep sequencing and mechanistic investigations.
Abstract:
Retinopathy of prematurity (ROP) is a complex disease that is influenced by both genetic and environmental factors. Several small studies have found genetic variants in EPAS1, VEGF, SOD, and members of the WNT family in association with ROP. Design in genetic studies is challenging because of changing recommendations for the management of prematurity and ROP, the fact ROP is rare, and that availability of resources for managing premature infants can vary throughout the world. In addition, there is a shortage of ophthalmologists with the ability to diagnose and characterize severe ROP. Careful determination of the degree of prematurity is important when evaluating genetic studies. Controlling for significant epidemiologic factors and multiple comparisons is also important to consider when evaluating genetic studies. One large candidate gene study controlled for degree of prematurity, significant epidemiologic factors, and multiple comparisons and found variants within the intron of BDNF associated with severe ROP. Future studies using unbiased techniques to assess genetic risk are important as are in-depth study of BDNF through deep sequencing and associated mechanistic studies using appropriate experimental models.
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