Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma
Uppsala University · deCODE Genetics (Iceland) · +2 more institutions
Abstract
Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. The population-attributable risk is more than 99%. The product of LOXL1…
Citation impact
- FWCI
- 52.72
- Percentile
- 100%
- References
- 19
Authors
22- GÞGuðmar ÞorleifssonCorresponding
Uppsala University, deCODE Genetics (Iceland), University of Iceland, National University Hospital of Iceland
- KPKristinn P. MagnússonCorresponding
Uppsala University, deCODE Genetics (Iceland), University of Iceland, National University Hospital of Iceland
- PSPatrick SulemCorresponding
Uppsala University, deCODE Genetics (Iceland), University of Iceland, National University Hospital of Iceland
- GBG. Bragi Walters
Uppsala University, deCODE Genetics (Iceland), University of Iceland, National University Hospital of Iceland
- DFDaníel F. Guðbjartsson
Uppsala University, deCODE Genetics (Iceland), University of Iceland, National University Hospital of Iceland
Topics & keywords
- Haplotype
- Genetics
- Single-nucleotide polymorphism
- Glaucoma
- Biology
- Population
- Allele
- Nonsynonymous substitution