An investigation into LOXL1 variants in black South African individuals with exfoliation syndrome

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dc.contributor.authorRautenbach R.M.
dc.contributor.authorBardien S.
dc.contributor.authorHarvey J.
dc.contributor.authorZiskind A.
dc.date.accessioned2011-05-15T16:15:38Z
dc.date.available2011-05-15T16:15:38Z
dc.date.issued2011
dc.description.abstractObjective: To investigate the association between 2 lysyl oxidase-like 1 (LOXL1) polymorphisms, rs1048661 (R141L) and rs3825942 (G153D), and exfoliation syndrome (XFS) in black South African individuals. Methods: A total of 43 black patients with XFS and 47 ethnically matched controls were recruited for genetic analysis. Samples were analyzed for presence of the LOXL1-R141L and G153D variants using restriction fragment length polymorphism analysis. A case-control association study was performed. Results: The R141L and G153D single-nucleotide polymorphisms (SNPs) were both significantly associated with XFS (P=.00582 and P<.00001, respectively). Consistent with findings in white populations but not in Asian cohorts, the GG genotype of the R141L SNP was present in significantly more XFS cases than controls (P=.00582). However, in this black South African study population, the AA genotype of G153D was present in an overwhelming majority of cases with XFS (P<.00001; odds ratio, 17.10; 95% confidence interval, 4.91-59.56), contrary to all previous articles in which theGGgenotype was strongly associated with the disease phenotype. Conclusion: The LOXL1 SNPs R141L and G153D are significantly associated with XFS in this black South African population. The AA genotype of G153D confers XFS risk in this population, as opposed to the GG genotype described in all other populations, suggesting that unidentified genetic or environmental factors independent of these LOXL1 SNPs may influence phenotypic expression of the syndrome. Clinical Relevance: Elucidation of the role of genetic factors, including the LOXL1 gene, in XFS will facilitate identification of individuals predisposed to developing this condition. ©2011 American Medical Association. All rights reserved.
dc.description.versionArticle
dc.identifier.citationArchives of Ophthalmology
dc.identifier.citation129
dc.identifier.citation2
dc.identifier.issn00039950
dc.identifier.other10.1001/archophthalmol.2010.349
dc.identifier.urihttp://hdl.handle.net/10019.1/13424
dc.subjectaged
dc.subjectarticle
dc.subjectcase control study
dc.subjectcohort analysis
dc.subjectconfidence interval
dc.subjectcontrolled study
dc.subjectDNA polymorphism
dc.subjectenvironmental factor
dc.subjectexfoliation syndrome
dc.subjectgene
dc.subjectgenetic analysis
dc.subjectgenetic association
dc.subjectgenotype
dc.subjectheredity
dc.subjecthuman
dc.subjectlysyl oxidase like 1 gene
dc.subjectmajor clinical study
dc.subjectphenotype
dc.subjectpriority journal
dc.subjectrestriction fragment length polymorphism
dc.subjectrisk
dc.subjectsingle nucleotide polymorphism
dc.subjectSouth Africa
dc.subjectAfrican Continental Ancestry Group
dc.subjectAged
dc.subjectAmino Acid Oxidoreductases
dc.subjectCase-Control Studies
dc.subjectDNA Mutational Analysis
dc.subjectExfoliation Syndrome
dc.subjectGene Frequency
dc.subjectGenetic Predisposition to Disease
dc.subjectGenotype
dc.subjectGlaucoma, Open-Angle
dc.subjectHumans
dc.subjectPolymorphism, Restriction Fragment Length
dc.subjectPolymorphism, Single Nucleotide
dc.subjectRisk Factors
dc.subjectSouth Africa
dc.titleAn investigation into LOXL1 variants in black South African individuals with exfoliation syndrome
dc.typeArticle
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