Association of LOXL1 polymorphisms with pseudoexfoliation, glaucoma, intraocular pressure, and systemic diseases in a Greek population. The Thessaloniki eye study.
Τίτλος | Association of LOXL1 polymorphisms with pseudoexfoliation, glaucoma, intraocular pressure, and systemic diseases in a Greek population. The Thessaloniki eye study. |
Publication Type | Journal Article |
Year of Publication | 2014 |
Authors | Anastasopoulos, E., Coleman A. L., M Wilson R., Sinsheimer J. S., Yu F., Katafigiotis S., Founti P., Salonikiou A., Pappas T., Koskosas A., Katopodi T., Lambropoulos A., & Topouzis F. |
Journal | Invest Ophthalmol Vis Sci |
Volume | 55 |
Issue | 7 |
Pagination | 4238-43 |
Date Published | 2014 Jun 10 |
ISSN | 1552-5783 |
Λέξεις κλειδιά | Aged, Alleles, Amino Acid Oxidoreductases, Cross-Sectional Studies, DNA, Ethnic Groups, Exfoliation Syndrome, Female, Genetic Predisposition to Disease, Genotype, Glaucoma, Open-Angle, Greece, Humans, Incidence, Intraocular Pressure, Male, Middle Aged, Odds Ratio, Polymerase Chain Reaction, Polymorphism, Genetic, Population Surveillance, Risk Factors, Tonometry, Ocular, Urban Population |
Abstract | PURPOSE: To investigate the association of the two single-nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene with pseudoexfoliation syndrome (PEX), pseudoexfoliative glaucoma (PEXG), and primary open-angle glaucoma (POAG) in a Greek population-based setting, from the Thessaloniki Eye study.METHODS: A total of 233 subjects with successful DNA extraction, PCR amplification, and genotyping were included in the genetic analysis of G153D and R141L SNPs of LOXL1 gene and classified into four groups: controls (n = 93); subjects with PEX (n = 40); POAG (n = 66); and PEXG (n = 34). Multinomial logistic regression was used to test their association with LOXL1 SNPs with adjustment for covariates. The association of LOXL1 with IOP (in untreated subjects) and with systemic diseases was explored.RESULTS: Both LOXL1 SNPs were present in high frequencies in controls and cases. The G153D was strongly associated with both PEX (odds ratio [OR] = 23.2, P = 0.003 for allele G) and PEXG (OR = 24.75, P = 0.003 for allele G) and was not associated with POAG (P = 0.451). In contrast, the R141L was not associated with PEX (P = 0.81), PEXG (P = 0.063), or POAG (P = 0.113). No association of the G153D with either intraocular pressure (IOP) or systemic diseases was found.CONCLUSIONS: In the Thessaloniki Eye Study, the G153D SNP of LOXL1 gene was strongly associated with both PEX and PEXG, whereas the R141L was not associated. No association of the LOXL1 with IOP or with systemic diseases was found. These findings further support the hypothesis that the LOXL1 gene contributes to onset of PEXG through PEX. Gene variants of LOXL1 do not help to identify those with PEX at increased risk for glaucoma development. |
DOI | 10.1167/iovs.14-13991 |
Alternate Journal | Invest Ophthalmol Vis Sci |
PubMed ID | 24917141 |
PubMed Central ID | PMC4095722 |
Grant List | R01 GM053275 / GM / NIGMS NIH HHS / United States GM053275 / GM / NIGMS NIH HHS / United States |