title: Genomics in the neonatal nursery: Focus on ROP.
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.
authors.affiliation: John A. Moran Eye Center, University of Utah, 65 Mario Capecchi Dr, Salt Lake City, Utah 84132. Electronic address: me.hartnett@hsc.utah.edu.
authors.forename: Mary Elizabeth
authors.initials: ME
authors.lastname: Hartnett
authors.affiliation: Duke University Medical Center, Durham, NC.
authors.forename: C Michael
authors.initials: CM
authors.lastname: Cotten
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics; D005260:Female; D059647:Gene-Environment Interaction; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D015997:Neonatal Screening; D011247:Pregnancy; D012178:Retinopathy of Prematurity / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D012189:Retrospective Studies; D012307:Risk Factors; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1; D018433:Twin Studies as Topic; D042442:Vascular Endothelial Growth Factors / Q000235:genetics*; D000099162:Endothelial PAS Domain-Containing Protein 1
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D019208:Brain-Derived Neurotrophic Factor; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D042442:Vascular Endothelial Growth Factors; D000099162:Endothelial PAS Domain-Containing Protein 1; C000606290:SOD1 protein, human; C579455:BDNF protein, human
keywords: BDNF; ROP; extreme; genetics