advertisement
Abstract #28038 Published in IGR 13-1
Collagen-related genes influence the glaucoma risk factor, central corneal thickness
Vithana EN; Aung T; Khor CC; Cornes BK; Tay W-T; Sim X; Lavanya R; Wu R; Zheng Y; Hibberd MLHuman Molecular Genetics 2011; 20: 649-658
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 null 10(-13), interval of RXRA-COL5A1 rs1536478, p(meta) = 3.05 null 10(-9)). We confirmed the involvement of a previously reported gene for CCT and brittle cornea syndrome (ZNF469) [rs9938149 (p(meta) = 1.63 null 10(-16)) and rs12447690 (p(meta) = 1.92 null 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 null 10(-9)). These findings implicate the involvement of collagen genes influencing CCT and thus, possibly the pathogenesis of glaucoma.
E.N. Vithana. Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751, Singapore. eranga.n.v@seri.com.sg
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
2.2 Cornea (Part of: 2 Anatomical structures in glaucoma)
9.2.2 Other risk factors for glaucoma (Part of: 9 Clinical forms of glaucomas > 9.2 Primary open angle glaucomas)
