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dc.contributor.authordel Bono, Elizabeth
dc.contributor.authorHaines, Jonathan L
dc.contributor.authorFan, Baojian
dc.contributor.authorPasquale, Louis
dc.contributor.authorGrosskreutz, Cynthia Lee
dc.contributor.authorRhee, Douglas J.
dc.contributor.authorChen, Teresa Chia-Ching
dc.contributor.authorDeAngelis, Margaret M.
dc.contributor.authorKim, Ivana Kyung
dc.contributor.authorMiller, Joan Whitten
dc.contributor.authorLi, Tiansen
dc.contributor.authorWiggs, Janey Lee
dc.date.accessioned2011-11-29T15:58:28Z
dc.date.issued2008
dc.identifier.citationFan, Bao Jian, Louis Pasquale, Cynthia L. Grosskreutz, Douglas Rhee, Teresa Chen, Margaret M. DeAngelis, Ivana Kim, et al. 2008. DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Medical Genetics 9: 5.en_US
dc.identifier.issn1471-2350en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:5355298
dc.description.abstractBackground: Pseudoexfoliation syndrome is a major risk factor for glaucoma in many populations throughout the world. Using a U.S. clinic-based case control sample with broad ethnic diversity, we show that three common SNPs in LOXL1 previously associated with pseudoexfoliation in Nordic populations are significantly associated with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Methods: Three LOXL1 SNPs were genotyped in a patient sample (206 pseudoexfoliation, 331 primary open angle glaucoma, and 88 controls) from the Glaucoma Consultation Service at the Massachusetts Eye and Ear Infirmary. The SNPs were evaluation for association with pseudeoexfoliation syndrome, pseudoexfoliation glaucoma, and primary open angle glaucoma. Results: The strongest association was found for the G allele of marker rs3825942 (G153D) with a frequency of 99% in pseudoexfoliation patients (with and without glaucoma) compared with 79% in controls (\(p = 1.6 × 10^{-15}\); OR = 20.93, 95%CI: 8.06, 54.39). The homozygous GG genotype is also associated with pseudoexfoliation when compared to controls (\(p = 1.2 × 10^{-12}\); OR = 23.57, 95%CI: 7.95, 69.85). None of the SNPs were significantly associated with primary open angle glaucoma. Conclusion: The pseudoexfoliation syndrome is a common cause of glaucoma. These results indicate that the G153D LOXL1 variant is significantly associated with an increased risk of pseudoexfoliation and pseudoexfoliation glaucoma in an ethnically diverse patient population from the Northeastern United States. Given the high prevalence of pseudooexfoliation in this geographic region, these results also indicate that the G153D LOXL1 variant is a significant risk factor for adult-onset glaucoma in this clinic based population.en_US
dc.language.isoen_USen_US
dc.publisherBioMed Centralen_US
dc.relation.isversionofdoi://10.1186/1471-2350-9-5en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2270804/pdf/en_US
dc.relation.hasversionhttp://www.biomedcentral.com/1471-2350/9/5en_US
dash.licenseLAA
dc.titleDNA Sequence Variants in the LOXL1 Gene are Associated with Pseudoexfoliation Glaucoma in a U.S. Clinic-Based Population with Broad Ethnic Diversityen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalBMC Medical Geneticsen_US
dash.depositing.authorMiller, Joan Whitten
dc.date.available2011-11-29T15:58:28Z
dash.affiliation.otherHMS^Ophthalmologyen_US
dash.affiliation.otherHMS^Ophthalmologyen_US
dash.affiliation.otherHMS^Ophthalmologyen_US
dash.affiliation.otherHMS^Ophthalmologyen_US
dash.affiliation.otherHMS^Ophthalmologyen_US
dash.affiliation.otherHMS^Ophthalmologyen_US
dash.affiliation.otherHMS^Ophthalmologyen_US
dash.affiliation.otherHMS^Ophthalmologyen_US
dash.affiliation.otherHMS^Medicine-Massachusetts General Hospitalen_US
dash.affiliation.otherHMS^Ophthalmologyen_US
dc.identifier.doi10.1186/1471-2350-9-5*
dash.authorsorderedfalse
dash.contributor.affiliatedGrosskreutz, Cynthia
dash.contributor.affiliatedFan, Baojian
dash.contributor.affiliatedKim, Ivana
dash.contributor.affiliatedChen, Teresa
dash.contributor.affiliatedWiggs, Janey
dash.contributor.affiliatedPasquale, Louis
dash.contributor.affiliatedRhee, Douglas J
dash.contributor.affiliatedMiller, Joan


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