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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • 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

Published Date

  • February 15, 2011

Published In

Volume / Issue

  • 20 / 4

Start / End Page

  • 649 - 658

PubMed ID

  • 21098505

Electronic International Standard Serial Number (EISSN)

  • 1460-2083

Digital Object Identifier (DOI)

  • 10.1093/hmg/ddq511


  • eng

Conference Location

  • England