TY - JOUR
T1 - Norrie disease gene polymorphism in Indonesian infants with retinopathy of prematurity
AU - Siswanto, J. Edy
AU - Ronoatmodjo, Sudarto
AU - Sitorus, Rita S.
AU - Soemantri, Ag
AU - Setijaningsih, Iswari
AU - Sauer, Pieter J.J.
N1 - Funding Information:
Acknowledgements This work was supported by Harapan Kita Women and Children Hospital, Jakarta Eye Center, and Budi Kemuliaan Hospital. We would like to thank all doctors, especially Nani H Widodo MD and Florence Manurung MD, who conducted the ophthalmological examination of premature babies we studied in this research.
Publisher Copyright:
© Author(s) (or their employer(s)) 2019.
PY - 2019/2/1
Y1 - 2019/2/1
N2 - 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.
AB - 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.
KW - DNA sequencing
KW - mutation
KW - norrie disease gene
KW - PCR
KW - polymorphism
KW - rop
UR - http://www.scopus.com/inward/record.url?scp=85066764744&partnerID=8YFLogxK
U2 - 10.1136/bmjophth-2018-000211
DO - 10.1136/bmjophth-2018-000211
M3 - Article
AN - SCOPUS:85066764744
SN - 2397-3269
VL - 4
JO - BMJ Open Ophthalmology
JF - BMJ Open Ophthalmology
IS - 1
M1 - e000211
ER -