DOI: 10.1126/science.1146554. Common Sequence Variants in the <i>LOXL1</i> Gene Confer Susceptibility to Exfoliation Glaucoma

Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma

10.1126/science.1146554

Crossref journal-article

American Association for the Advancement of Science (AAAS)

Science (221)

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 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG.

Bibliography

Thorleifsson, G., Magnusson, K. P., Sulem, P., Walters, G. B., Gudbjartsson, D. F., Stefansson, H., Jonsson, T., Jonasdottir, A., Jonasdottir, A., Stefansdottir, G., Masson, G., Hardarson, G. A., Petursson, H., Arnarsson, A., Motallebipour, M., Wallerman, O., Wadelius, C., Gulcher, J. R., Thorsteinsdottir, U., â¦ Stefansson, K. (2007). Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma. Science, 317(5843), 1397â1400.

Authors 22

Gudmar Thorleifsson (first)
Kristinn P. Magnusson (additional)
Patrick Sulem (additional)
G. Bragi Walters (additional)
Daniel F. Gudbjartsson (additional)
Hreinn Stefansson (additional)
Thorlakur Jonsson (additional)
Adalbjorg Jonasdottir (additional)
Aslaug Jonasdottir (additional)
Gerdur Stefansdottir (additional)
Gisli Masson (additional)
Gudmundur A. Hardarson (additional)
Hjorvar Petursson (additional)
Arsaell Arnarsson (additional)
Mehdi Motallebipour (additional)
Ola Wallerman (additional)
Claes Wadelius (additional)
Jeffrey R. Gulcher (additional)
Unnur Thorsteinsdottir (additional)
Augustine Kong (additional)
Fridbert Jonasson (additional)
Kari Stefansson (additional)

References 24 Referenced 535

S. Resnikoffet al., Bull. World Health Org.82, 844 (2004). / Bull. World Health Org. (2004)
10.1136/bjo.86.2.238
10.1038/sj.eye.6700374
10.1034/j.1600-0420.1999.770401.x
10.1097/01.ijg.0000243470.13343.8b
10.1016/j.ajo.2006.01.047
10.1111/j.1442-9071.2006.01268.x
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10.1093/hmg/ddi068
Materials and methods are available as supporting material on Science Online.
10.1111/j.0006-341X.1999.00997.x
N. Mantel, W. Haenszel, J. Natl. Cancer Inst.22, 719 (1959). / J. Natl. Cancer Inst. (1959)
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10.1007/s00018-006-6149-9
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10.1016/S1350-9462(02)00014-9
R. P. Kirwanet al., Mol. Vis.11, 798 (2005). / Mol. Vis. (2005)
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10.1006/exer.1998.0539
10.1093/hmg/ddg055
10.1097/01.fpc.0000178311.02878.83
10.1093/hmg/ddl024
We thank the participants whose contribution made this study possible. We also thank the nurses at Noatun (deCODE's sample recruitment center) and personnel at the deCODE core facilities for their hardwork and enthusiasm. C. W. was supported by the Swedish Research Council. The authors from deCODE genetics declare competing financial interests.

Dates

Type	When
Created	18 years ago (Aug. 9, 2007, 8:58 p.m.)
Deposited	1 year, 7 months ago (Jan. 10, 2024, 3:10 a.m.)
Indexed	2 days, 13 hours ago (Aug. 27, 2025, 12:31 p.m.)
Issued	17 years, 11 months ago (Sept. 7, 2007)
Published	17 years, 11 months ago (Sept. 7, 2007)
Published Print	17 years, 11 months ago (Sept. 7, 2007)

Funders 0

None

BibTeX

@article{Thorleifsson_2007, title={Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma}, volume={317}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.1146554}, DOI={10.1126/science.1146554}, number={5843}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Thorleifsson, Gudmar and Magnusson, Kristinn P. and Sulem, Patrick and Walters, G. Bragi and Gudbjartsson, Daniel F. and Stefansson, Hreinn and Jonsson, Thorlakur and Jonasdottir, Adalbjorg and Jonasdottir, Aslaug and Stefansdottir, Gerdur and Masson, Gisli and Hardarson, Gudmundur A. and Petursson, Hjorvar and Arnarsson, Arsaell and Motallebipour, Mehdi and Wallerman, Ola and Wadelius, Claes and Gulcher, Jeffrey R. and Thorsteinsdottir, Unnur and Kong, Augustine and Jonasson, Fridbert and Stefansson, Kari}, year={2007}, month=sep, pages={1397–1400} }

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