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Genetic contributions to the development of retinopathy of prematurity.

ABSTRACT: There is growing support for the role of genetic factors in the development of retinopathy of prematurity (ROP), a serious visual morbidity resulting from preterm birth. We used both candidate gene and data-mining approaches to investigate the role of genetic polymorphisms in the development of ROP. Our study population consisted of 330 infants, less than 32 wk gestation, and their parents. We initially studied 24 single nucleotide polymorphisms (SNPs) in 11 candidate genes. Using a family-based analysis strategy, we found an association between SNPs in the EPAS1 gene and the development of ROP (p = 0.007). Logistic regression analysis showed three SNPs associated with development of ROP, two in the CFH gene (p = 0.01) and one in the EPAS1 gene (p = 0.001). Extending this analysis to include genotyping data from a larger genetic study of prematurity (455 SNPs in 153 genes), we found SNPs in five genes associated with the development of ROP: IHH (p = 0.003), AGTR1 (p = 0.005), TBX5 (p = 0.003), CETP (p = 0.004), and GP1BA (p = 0.005). Our data suggest that genetic risk factors contribute to the development of ROP.

SUBMITTER: Mohamed S

PROVIDER: S-EPMC2671288 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature

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Genetic contributions to the development of retinopathy of prematurity.

Mohamed Shakir S Schaa Kendra K Cooper Margaret E ME Ahrens Elise E Alvarado Ana A Colaizy Tarah T Marazita Mary L ML Murray Jeffrey C JC Dagle John M JM

Pediatric research 20090201 2

There is growing support for the role of genetic factors in the development of retinopathy of prematurity (ROP), a serious visual morbidity resulting from preterm birth. We used both candidate gene and data-mining approaches to investigate the role of genetic polymorphisms in the development of ROP. Our study population consisted of 330 infants, less than 32 wk gestation, and their parents. We initially studied 24 single nucleotide polymorphisms (SNPs) in 11 candidate genes. Using a family-based ...[more]

PMID: 18787502

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Project description:BACKGROUND:The application of three-dimensional (3D) visualization techniques to evaluate the earliest visible onset of abnormal retinal vascular development in preterm infants with retinopathy of prematurity (ROP), using bedside non-contact optical coherence tomography (OCT) imaging to characterize morphology and sequential structural changes of abnormal extraretinal neovascularization. METHODS:Thirty-one preterm infants undergoing routine ROP screening with written informed consent for research imaging were enrolled in this prospective observational study. We imaged the macula and temporal periphery of preterm infants using a handheld OCT system (Envisu 2300 or handheld swept-source research system). The scans obtained were segmented and, using enhanced ray casting, were converted to 3D volumes to which color filter was applied. RESULTS:Using colorized 3D visualization, we defined extraretinal neovascular structures as buds, bridging networks, and placoid lesions. We could longitudinally follow progression and regression of extraretinal neovascularization in stage 3 ROP after treatment in one infant over 12 weeks and document the appearance of early buds, and formation of florid neovascularization. From stages 2 to 3 ROP, we observed progression from sessile buds to a complex plaque that corresponded to stage 3 ROP on clinical examination. We demonstrated regression of neovascular complexes to small pre-retinal tufts after treatment with anti-VEGF. CONCLUSIONS:The extension of OCT processing to include surface flattening and colorization that further improved structural analysis rendered better understanding of extraretinal tissue. Our ability to image similar areas in the same infant over multiple visits enabled us to study the evolution of these structural components and follow pathological vascular events longitudinally in development and regression after treatment. These methods can be applied to further study which are likely contribute to our understanding of the pathophysiology of neovascularization in ROP.

Project description:IMPORTANCE:Detection of treatment-requiring retinopathy of prematurity (ROP) involves serial eye examinations. An ROP prediction model using predictive factors could identify high-risk infants and reduce required eye examinations. OBJECTIVE:To determine predictive factors for the development of referral-warranted (RW) ROP. DESIGN, SETTING, AND PARTICIPANTS:This multicenter observational cohort study included secondary analysis of data from the Telemedicine Approaches to Evaluating Acute-Phase Retinopathy of Prematurity Study. Infants included in the study had a birth weight (BW) of less than 1251 g. EXPOSURES:Serial ROP examinations of premature infants who had 2 or more ROP examinations. MAIN OUTCOMES AND MEASURES:Incidence of RW-ROP (defined as the presence of plus disease, zone I ROP, or ROP stage 3 or greater in either eye) and associations with predictive factors. RESULTS:Among 979 infants without RW-ROP at first study-related eye examination (median postmenstrual age, 33 weeks; range, 29-40 weeks) who underwent at least 2 eye examinations, 149 (15.2%) developed RW-ROP. In a multivariate model, significant predictors for RW-ROP were male sex (odds ratio [OR], 1.80; 95% CI, 1.13-2.86 vs female), nonblack race (OR, 2.76; 95% CI, 1.50-5.08 for white vs black race and OR, 4.81; 95% CI, 2.19-10.6 for other vs black race), low BW (OR, 5.16; 95% CI, 1.12-7.20 for ?500 g vs >1100 g), younger gestational age (OR, 9.79; 95% CI, 3.49-27.5 for ?24 weeks vs ?28 weeks), number of quadrants with preplus disease (OR, 7.12; 95% CI, 2.53-20.1 for 1-2 quadrants and OR, 18.4; 95% CI, 4.28-79.4 for 3-4 quadrants vs no preplus disease), stage 2 ROP (OR, 4.13; 95% CI, 2.13-8.00 vs no ROP), the presence of retinal hemorrhage (OR, 4.36; 95% CI, 1.57-12.1 vs absence), the need for respiratory support (OR, 4.99; 95% CI, 1.89-13.2 for the need for controlled mechanical ventilator; OR, 11.0; 95% CI, 2.26-53.8 for the need for high-frequency oscillatory ventilation vs no respiratory support), and slow weight gain (OR, 2.44; 95% CI, 1.22-4.89 for weight gain ?12 g/d vs >18 g/d). These characteristics predicted the development of RW-ROP significantly better than BW and gestational age (area under receiver operating characteristic curve, 0.88 vs 0.78; P?<?.001). CONCLUSIONS AND RELEVANCE:When controlling for very low BW and prematurity, the presence of preplus disease, stage 2 ROP, retinal hemorrhage, and the need for ventilation at time of first study-related eye examination were strong independent predictors for RW-ROP. These predictors may help identify infants in need of timely eye examinations.

Dataset Information

Genetic contributions to the development of retinopathy of prematurity.

Publications

Genetic contributions to the development of retinopathy of prematurity.

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