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Collagen-related genes influence the glaucoma risk factor, central corneal thickness.

Publication ,  Journal Article
Vithana, EN; Aung, T; Khor, CC; Cornes, BK; Tay, W-T; Sim, X; Lavanya, R; Wu, R; Zheng, Y; Hibberd, ML; Chia, KS; Seielstad, M; Goh, LK ...
Published in: Hum Mol Genet
February 15, 2011

Central corneal thickness (CCT) is a risk factor of glaucoma, the most common cause of irreversible blindness worldwide. The identification of genetic determinants affecting CCT in the normal population will provide insights into the mechanisms underlying the association between CCT and glaucoma, as well as the pathogenesis of glaucoma itself. We conducted two genome-wide association studies for CCT in 5080 individuals drawn from two ethnic populations in Singapore (2538 Indian and 2542 Malays) and identified novel genetic loci significantly associated with CCT (COL8A2 rs96067, p(meta) = 5.40 × 10⁻¹³, interval of RXRA-COL5A1 rs1536478, p(meta) = 3.05 × 10⁻⁹). We confirmed the involvement of a previously reported gene for CCT and brittle cornea syndrome (ZNF469) [rs9938149 (p(meta) = 1.63 × 10⁻¹⁶) and rs12447690 (p(meta) = 1.92 × 10⁻¹⁴)]. Evidence of association exceeding the formal threshold for genome-wide significance was observed at rs7044529, an SNP located within COL5A1 when data from this study (n = 5080, P = 0.0012) were considered together with all published data (reflecting an additional 7349 individuals, p(Fisher) = 1.5 × 10⁻⁹). These findings implicate the involvement of collagen genes influencing CCT and thus, possibly the pathogenesis of glaucoma.

Duke Scholars

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

February 15, 2011

Volume

20

Issue

4

Start / End Page

649 / 658

Location

England

Related Subject Headings

  • Singapore
  • Risk Factors
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Malaysia
  • Humans
  • Glaucoma
  • Genome-Wide Association Study
 

Citation

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Chicago
ICMJE
MLA
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Vithana, E. N., Aung, T., Khor, C. C., Cornes, B. K., Tay, W.-T., Sim, X., … Wong, T. Y. (2011). Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet, 20(4), 649–658. https://doi.org/10.1093/hmg/ddq511
Vithana, Eranga N., Tin Aung, Chiea Chuen Khor, Belinda K. Cornes, Wan-Ting Tay, Xueling Sim, Raghavan Lavanya, et al. “Collagen-related genes influence the glaucoma risk factor, central corneal thickness.Hum Mol Genet 20, no. 4 (February 15, 2011): 649–58. https://doi.org/10.1093/hmg/ddq511.
Vithana EN, Aung T, Khor CC, Cornes BK, Tay W-T, Sim X, et al. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet. 2011 Feb 15;20(4):649–58.
Vithana, Eranga N., et al. “Collagen-related genes influence the glaucoma risk factor, central corneal thickness.Hum Mol Genet, vol. 20, no. 4, Feb. 2011, pp. 649–58. Pubmed, doi:10.1093/hmg/ddq511.
Vithana EN, Aung T, Khor CC, Cornes BK, Tay W-T, Sim X, Lavanya R, Wu R, Zheng Y, Hibberd ML, Chia KS, Seielstad M, Goh LK, Saw S-M, Tai ES, Wong TY. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet. 2011 Feb 15;20(4):649–658.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

February 15, 2011

Volume

20

Issue

4

Start / End Page

649 / 658

Location

England

Related Subject Headings

  • Singapore
  • Risk Factors
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Malaysia
  • Humans
  • Glaucoma
  • Genome-Wide Association Study