Tags

Type your tag names separated by a space and hit enter

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Science. 2007 Sep 07; 317(5843):1397-400.Sci

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.

Authors+Show Affiliations

deCODE genetics Inc, 101 Reykjavik, Iceland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17690259

Citation

Thorleifsson, Gudmar, et al. "Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma." Science (New York, N.Y.), vol. 317, no. 5843, 2007, pp. 1397-400.
Thorleifsson G, Magnusson KP, Sulem P, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science. 2007;317(5843):1397-400.
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., ... Stefansson, K. (2007). Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science (New York, N.Y.), 317(5843), 1397-400.
Thorleifsson G, et al. Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma. Science. 2007 Sep 7;317(5843):1397-400. PubMed PMID: 17690259.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. AU - Thorleifsson,Gudmar, AU - Magnusson,Kristinn P, AU - Sulem,Patrick, AU - Walters,G Bragi, AU - Gudbjartsson,Daniel F, AU - Stefansson,Hreinn, AU - Jonsson,Thorlakur, AU - Jonasdottir,Adalbjorg, AU - Jonasdottir,Aslaug, AU - Stefansdottir,Gerdur, AU - Masson,Gisli, AU - Hardarson,Gudmundur A, AU - Petursson,Hjorvar, AU - Arnarsson,Arsaell, AU - Motallebipour,Mehdi, AU - Wallerman,Ola, AU - Wadelius,Claes, AU - Gulcher,Jeffrey R, AU - Thorsteinsdottir,Unnur, AU - Kong,Augustine, AU - Jonasson,Fridbert, AU - Stefansson,Kari, Y1 - 2007/08/09/ PY - 2007/8/11/pubmed PY - 2007/9/22/medline PY - 2007/8/11/entrez SP - 1397 EP - 400 JF - Science (New York, N.Y.) JO - Science VL - 317 IS - 5843 N2 - 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. SN - 1095-9203 UR - https://www.unboundmedicine.com/medline/citation/17690259/Common_sequence_variants_in_the_LOXL1_gene_confer_susceptibility_to_exfoliation_glaucoma_ L2 - http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=17690259 DB - PRIME DP - Unbound Medicine ER -