Genetic contributions to the development of retinopathy of prematurity

Shakir Mohamed; Kendra Schaa; Margaret E Cooper; Elise Ahrens; Ana Alvarado; Tarah Colaizy; Mary L Marazita; Jeffrey C Murray; John M Dagle

doi:10.1203/PDR.0b013e31818d1dbd

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Genetic contributions to the development of retinopathy of prematurity

Journal article

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Peer reviewed

Genetic contributions to the development of retinopathy of prematurity

Shakir Mohamed, Kendra Schaa, Margaret E Cooper, Elise Ahrens, Ana Alvarado, Tarah Colaizy, Mary L Marazita, Jeffrey C Murray and John M Dagle

Pediatric research, Vol.65(2), pp.193-197

02/2009

DOI: 10.1203/PDR.0b013e31818d1dbd

PMCID: PMC2671288

PMID: 18787502

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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.

Genetic Predisposition to Disease

Basic Helix-Loop-Helix Transcription Factors - genetics

Risk Assessment

Membrane Proteins - genetics

Humans

Risk Factors

Logistic Models

Male

Retinopathy of Prematurity - genetics

Gestational Age

T-Box Domain Proteins - genetics

Case-Control Studies

Receptor, Angiotensin, Type 1 - genetics

Hedgehog Proteins - genetics

Cholesterol Ester Transfer Proteins - genetics

Pedigree

Infant, Premature

Female

Polymorphism, Single Nucleotide

Membrane Glycoproteins

Platelet Glycoprotein GPIb-IX Complex

Infant, Newborn

Details

Title: Subtitle: Genetic contributions to the development of retinopathy of prematurity
Creators: Shakir Mohamed - Department of Pediatrics, University of Iowa, Iowa 52242, USA
Kendra Schaa
Margaret E Cooper
Elise Ahrens
Ana Alvarado
Tarah Colaizy
Mary L Marazita
Jeffrey C Murray
John M Dagle
Resource Type: Journal article
Publication Details: Pediatric research, Vol.65(2), pp.193-197
DOI: 10.1203/PDR.0b013e31818d1dbd
PMID: 18787502
PMCID: PMC2671288
NLM abbreviation: Pediatr Res
ISSN: 0031-3998
eISSN: 1530-0447
Publisher: United States
Grant note: P30 ES005605 / NIEHS NIH HHS P30 ES005605-170010 / NIEHS NIH HHS R01 HD052953-01 / NICHD NIH HHS R01 HD052953 / NICHD NIH HHS M01 RR000059 / NCRR NIH HHS P30 ES005605-180010 / NIEHS NIH HHS P30 ES05605 / NIEHS NIH HHS M01 RR000059-466795 / NCRR NIH HHS
Language: English
Date published: 02/2009
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Biochemistry and Molecular Biology; Dental Research; Neonatology
Record Identifier: 9984024501402771

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