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BMJ Open Ophthalmology
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BMJ Open Ophthalmology
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Norrie disease gene polymorphism in Indonesian infants with retinopathy of prematurity

Authors: J Edy Siswanto; Sudarto Ronoatmodjo; Rita S Sitorus; Ag Soemantri; Iswari Setijaningsih; Pieter J J Sauer;

Norrie disease gene polymorphism in Indonesian infants with retinopathy of prematurity

Abstract

ObjectiveRetinopathy of prematurity (ROP) is a major cause of blindness in newborn infants, which also occurs in low-income and middle-income countries. Why ROP progresses in some infants while it regresses in others is still presently unknown. Studies suggest that genetic factors might be involved. Mutations in the Norrie disease (ND) gene are suspected to be related to advanced ROP development. Indonesia is a country with relatively high incidence of ROP, yet the role of these genetic factors in the pathogenesis of ROP cases is still unknown. The study aimed to investigate the presence of mutations in ND on the X chromosome in infants with both non-advanced and advanced ROP in Indonesia.Methods and AnalysisThis is a case–control study of polymorphisms in six variants within the ND gene in exon 3, C597A, L108P, R121W, A105T, V60E and C110G, in preterm newborn infants in four major hospitals in Greater Jakarta, Indonesia.ResultsWe included 162 preterm newborn infants. ROP was diagnosed in 83 infants, and 79 infants served as controls. Among those with ROP, 57 infants had type 2, while others had type 1. We did not find any gene polymorphisms in any of the infants with ROP nor in the control group.ConclusionWe conclude that it is very unlikely that the six polymorphisms in exon 3 of the ND gene studied in this paper are involved in the development or progression of ROP in preterm infants in our population sample in Indonesia.

Country
Netherlands
Keywords

MISSENSE MUTATIONS, IDENTIFICATION, NDP GENE, FRIZZLED-4, Original Article, VARIANTS, POPULATION

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
1
Average
Average
Average
Green
gold