Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Export

@article{citeulike:2974102, 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.}, address = {deCODE genetics Inc, 101 Reykjavik, Iceland.}, author = {Thorleifsson, G. and Magnusson, K. P. and Sulem, P. and Walters, G. B. and Gudbjartsson, D. F. and Stefansson, H. and Jonsson, T. and Jonasdottir, A. and Jonasdottir, A. and Stefansdottir, G. and Masson, G. and Hardarson, G. A. and Petursson, H. and Arnarsson, A. and Motallebipour, M. and Wallerman, O. and Wadelius, C. and Gulcher, J. R. and Thorsteinsdottir, U. and Kong, A. and Jonasson, F. and Stefansson, K.}, citeulike-article-id = {2974102}, citeulike-linkout-0 = {http://dx.doi.org/10.1126/science.1146554}, citeulike-linkout-1 = {http://www.sciencemag.org/cgi/content/abstract/317/5843/1397}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/17690259}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=17690259}, day = {7}, doi = {10.1126/science.1146554}, issn = {1095-9203}, journal = {Science (New York, N.Y.)}, keywords = {glaucoma}, month = {September}, number = {5843}, pages = {1397--1400}, posted-at = {2008-07-09 05:05:10}, priority = {3}, title = {Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.}, url = {http://dx.doi.org/10.1126/science.1146554}, volume = {317}, year = {2007} }

TY - JOUR ID - citeulike:2974102 L3 - citeulike-article-id:2974102 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. IS - 5843 JF - Science (New York, N.Y.) SN - 1095-9203 AD - deCODE genetics Inc, 101 Reykjavik, Iceland. EP - 1400 TI - Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. VL - 317 SP - 1397 KW - glaucoma AU - Thorleifsson, G AU - Magnusson, KP AU - Sulem, P AU - Walters, GB AU - Gudbjartsson, DF AU - Stefansson, H AU - Jonsson, T AU - Jonasdottir, A AU - Jonasdottir, A AU - Stefansdottir, G AU - Masson, G AU - Hardarson, GA AU - Petursson, H AU - Arnarsson, A AU - Motallebipour, M AU - Wallerman, O AU - Wadelius, C AU - Gulcher, JR AU - Thorsteinsdottir, U AU - Kong, A AU - Jonasson, F AU - Stefansson, K PY - 2007/09/07/ UR - http://dx.doi.org/10.1126/science.1146554 ER -