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Original article
Norrie disease gene polymorphism in Indonesian infants with retinopathy of prematurity
  1. J Edy Siswanto1,
  2. Sudarto Ronoatmodjo2,
  3. Rita S Sitorus3,
  4. Ag Soemantri4,
  5. Iswari Setijaningsih5,
  6. Pieter J J Sauer6
  1. 1 Neonatology, Harapan Kita Women and Children Hospital, Jakarta, Indonesia
  2. 2 Epidemiology, University of Indonesia, School of Public Health, Depok, Indonesia
  3. 3 Ophthalmology, Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  4. 4 Pediatric, Dr Kariadi General Hospital Medical Center, Semarang, Indonesia
  5. 5 Eijkman Institute for Molecular Biology, Jakarta, Indonesia
  6. 6 Pediatric, Universitair Medisch Centrum Groningen, Groningen, The Netherlands
  1. Correspondence to Dr J Edy Siswanto; edyjo15{at}yahoo.com

Abstract

Objective Retinopathy 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 Analysis This 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.

Results We 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.

Conclusion We 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.

  • rop
  • norrie disease gene
  • polymorphism
  • mutation
  • pcr
  • DNA sequencing

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

https://doi.org/10.1136/bmjophth-2018-000211

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    Footnotes

    • Contributors JES is the person who wrote the first draft of this manuscript and is involved directly in major aspects of this research/manuscript. SR developed and designed the study and helped in writing the report. RSS and IS assisted in data analysis and contributed to the interpretation and discussions in the ophthalmology and genetics sections. AS conducted the statistical analysis and worked on the report. PJJS assisted in literature review and assisted in writing the paper.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent in publication Not required.

    • Ethics approval The study was approved by the Institutional Review Board of the University of Indonesia School of Public Health. Informed consent was obtained from parents of all infants.

    • Provenance and peer review Not commissioned; externally peer reviewed.