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Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.

Publication ,  Journal Article
Fan, Q; Barathi, VA; Cheng, C-Y; Zhou, X; Meguro, A; Nakata, I; Khor, C-C; Goh, L-K; Li, Y-J; Lim, W; Ho, CEH; Hawthorne, F; Zheng, Y ...
Published in: PLoS Genet
2012

As one of the leading causes of visual impairment and blindness, myopia poses a significant public health burden in Asia. The primary determinant of myopia is an elongated ocular axial length (AL). Here we report a meta-analysis of three genome-wide association studies on AL conducted in 1,860 Chinese adults, 929 Chinese children, and 2,155 Malay adults. We identified a genetic locus on chromosome 1q41 harboring the zinc-finger 11B pseudogene ZC3H11B showing genome-wide significant association with AL variation (rs4373767, β = -0.16 mm per minor allele, P(meta) =2.69 × 10(-10)). The minor C allele of rs4373767 was also observed to significantly associate with decreased susceptibility to high myopia (per-allele odds ratio (OR) =0.75, 95% CI: 0.68-0.84, P(meta) =4.38 × 10(-7)) in 1,118 highly myopic cases and 5,433 controls. ZC3H11B and two neighboring genes SLC30A10 and LYPLAL1 were expressed in the human neural retina, retinal pigment epithelium, and sclera. In an experimental myopia mouse model, we observed significant alterations to gene and protein expression in the retina and sclera of the unilateral induced myopic eyes for the murine genes ZC3H11A, SLC30A10, and LYPLAL1. This supports the likely role of genetic variants at chromosome 1q41 in influencing AL variation and high myopia.

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Published In

PLoS Genet

DOI

EISSN

1553-7404

Publication Date

2012

Volume

8

Issue

6

Start / End Page

e1002753

Location

United States

Related Subject Headings

  • Zinc Transporter 8
  • Sclera
  • Retinal Pigment Epithelium
  • Retina
  • RNA-Binding Proteins
  • Polymorphism, Single Nucleotide
  • Nuclear Proteins
  • Myopia
  • Middle Aged
  • Mice
 

Citation

APA
Chicago
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Fan, Q., Barathi, V. A., Cheng, C.-Y., Zhou, X., Meguro, A., Nakata, I., … Saw, S.-M. (2012). Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. PLoS Genet, 8(6), e1002753. https://doi.org/10.1371/journal.pgen.1002753
Fan, Qiao, Veluchamy A. Barathi, Ching-Yu Cheng, Xin Zhou, Akira Meguro, Isao Nakata, Chiea-Chuen Khor, et al. “Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.PLoS Genet 8, no. 6 (2012): e1002753. https://doi.org/10.1371/journal.pgen.1002753.
Fan Q, Barathi VA, Cheng C-Y, Zhou X, Meguro A, Nakata I, et al. Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. PLoS Genet. 2012;8(6):e1002753.
Fan, Qiao, et al. “Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.PLoS Genet, vol. 8, no. 6, 2012, p. e1002753. Pubmed, doi:10.1371/journal.pgen.1002753.
Fan Q, Barathi VA, Cheng C-Y, Zhou X, Meguro A, Nakata I, Khor C-C, Goh L-K, Li Y-J, Lim W, Ho CEH, Hawthorne F, Zheng Y, Chua D, Inoko H, Yamashiro K, Ohno-Matsui K, Matsuo K, Matsuda F, Vithana E, Seielstad M, Mizuki N, Beuerman RW, Tai E-S, Yoshimura N, Aung T, Young TL, Wong T-Y, Teo Y-Y, Saw S-M. Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. PLoS Genet. 2012;8(6):e1002753.

Published In

PLoS Genet

DOI

EISSN

1553-7404

Publication Date

2012

Volume

8

Issue

6

Start / End Page

e1002753

Location

United States

Related Subject Headings

  • Zinc Transporter 8
  • Sclera
  • Retinal Pigment Epithelium
  • Retina
  • RNA-Binding Proteins
  • Polymorphism, Single Nucleotide
  • Nuclear Proteins
  • Myopia
  • Middle Aged
  • Mice