Genomics in the neonatal nursery: Focus on ROP.

Journal Article (Journal Article;Review)

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.

Full Text

Duke Authors

Cited Authors

  • Hartnett, ME; Cotten, CM

Published Date

  • December 2015

Published In

Volume / Issue

  • 39 / 8

Start / End Page

  • 604 - 610

PubMed ID

  • 26477493

Pubmed Central ID

  • PMC4644692

Electronic International Standard Serial Number (EISSN)

  • 1558-075X

Digital Object Identifier (DOI)

  • 10.1053/j.semperi.2015.09.007


  • eng

Conference Location

  • United States