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In-utero epigenetic factors are associated with early-onset myopia in young children.

Publication ,  Journal Article
Seow, WJ; Ngo, CS; Pan, H; Barathi, VA; Tompson, SW; Whisenhunt, KN; Vithana, E; Chong, Y-S; Juo, S-HH; Hysi, P; Young, TL; Karnani, N; Saw, SM
Published in: PLoS One
2019

OBJECTIVES: To assess whether epigenetic mechanisms affecting gene expression may be involved in the pathogenesis of early-onset myopia, we performed genome-wide DNA methylation analyses of umbilical cord tissues, and assessed any associations between CpG site-specific methylation and the development of the disorder when the children were 3 years old. METHODS: Genome-wide DNA methylation profiling of umbilical cord samples from 519 Singaporean infants involved in a prospective birth cohort 'Growing Up in Singapore Towards healthy Outcomes' (GUSTO) was performed using the Illumina Infinium HumanMethylation450K chip microarray. Multivariable logistic regression models were used to assess any associations between site-specific CpG methylation of umbilical cord tissue at birth and myopia risk in 3 year old children, adjusting for potential confounders. Gene expression of genes located near CpG sites that demonstrated statistically significant associations were measured in relevant ocular tissues using human and mouse fetal and adult eye samples. RESULTS: We identified statistically significant associations between DNA methylation levels at five CpG sites and early-onset myopia risk after correcting for multiple comparisons using a false discovery rate of 5%. Two statistically significant CpG sites were identified in intergenic regions: 8p23(p = 1.70×10-7) and 12q23.2(p = 2.53×10-7). The remaining 3 statistically significant CpG sites were identified within the following genes: FGB (4q28, p = 3.60×10-7), PQLC1 (18q23, p = 8.9×10-7) and KRT12 (17q21.2, p = 1.2×10-6). Both PQLC1 and KRT12 were found to be significantly expressed in fetal and adult cornea and sclera tissues in both human and mouse. CONCLUSIONS: We identified five CpG methylation sites that demonstrate a statistically significant association with increased risk of developing early-onset myopia. These findings suggest that variability in the neonatal cord epigenome may influence early-onset myopia risk in children. Further studies of the epigenetic influences on myopia risk in larger study populations, and the associations with adulthood myopia risk are warranted.

Duke Scholars

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Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

2019

Volume

14

Issue

5

Start / End Page

e0214791

Location

United States

Related Subject Headings

  • Umbilical Cord
  • Risk Factors
  • Myopia
  • Mice, Inbred C57BL
  • Mice
  • Male
  • Keratin-12
  • Humans
  • Genome-Wide Association Study
  • General Science & Technology
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Seow, W. J., Ngo, C. S., Pan, H., Barathi, V. A., Tompson, S. W., Whisenhunt, K. N., … Saw, S. M. (2019). In-utero epigenetic factors are associated with early-onset myopia in young children. PLoS One, 14(5), e0214791. https://doi.org/10.1371/journal.pone.0214791
Seow, Wei Jie, Cheryl S. Ngo, Hong Pan, Veluchamy Amutha Barathi, Stuart W. Tompson, Kristina N. Whisenhunt, Eranga Vithana, et al. “In-utero epigenetic factors are associated with early-onset myopia in young children.PLoS One 14, no. 5 (2019): e0214791. https://doi.org/10.1371/journal.pone.0214791.
Seow WJ, Ngo CS, Pan H, Barathi VA, Tompson SW, Whisenhunt KN, et al. In-utero epigenetic factors are associated with early-onset myopia in young children. PLoS One. 2019;14(5):e0214791.
Seow, Wei Jie, et al. “In-utero epigenetic factors are associated with early-onset myopia in young children.PLoS One, vol. 14, no. 5, 2019, p. e0214791. Pubmed, doi:10.1371/journal.pone.0214791.
Seow WJ, Ngo CS, Pan H, Barathi VA, Tompson SW, Whisenhunt KN, Vithana E, Chong Y-S, Juo S-HH, Hysi P, Young TL, Karnani N, Saw SM. In-utero epigenetic factors are associated with early-onset myopia in young children. PLoS One. 2019;14(5):e0214791.

Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

2019

Volume

14

Issue

5

Start / End Page

e0214791

Location

United States

Related Subject Headings

  • Umbilical Cord
  • Risk Factors
  • Myopia
  • Mice, Inbred C57BL
  • Mice
  • Male
  • Keratin-12
  • Humans
  • Genome-Wide Association Study
  • General Science & Technology