title: Ethnicity-Based Differences in the Association of LOXL1 Polymorphisms with Pseudoexfoliation/Pseudoexfoliative Glaucoma: A Meta-Analysis.
abstract: Pseudoexfoliation (PEX) is an age-related disorder of the extracellular matrix; it is strongly associated with glaucoma, the leading cause of irreversible blindness worldwide. We conducted an ethnic-based meta-analysis of the association of LOXL1 polymorphisms with PEX/pseudoexfoliative glaucoma (PEXG). Association studies were retrieved systematically from PubMed, EMBASE, and Web of Knowledge. Allelic and genotype frequencies of rs3825942, rs1048661, and rs2165241 were compared between PEX/PEXG and controls. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using a random effects model. Overall, 39 independent cohorts were included. Rs3825942 (G) was an at risk allele for PEX/PEXG in Caucasians, Japanese, Koreans, Chinese, South Asians, and Middle Easterners, but protective in Black South Africans (OR = 0.10, 95%CI:0.06-0.16). Rs1048661 (G) was an at risk allele for PEX/PEXG in Caucasians, South Asians, Middle Easterners and Black South Africans, but was protective in Japanese (OR = 0.03, 95%CI:0.02-0.06) and Koreans (OR = 0.10, 95%CI:0.05-0.22). These associations we-re confirmed for the genotypic recessive models. Rs2165241 (C) was a protective allele for PEX/PEXG in Caucasians, but was an at risk allele in Japanese (OR = 7.49, 95%CI:3.22-17.41) and Koreans (OR = 6.63, 95%CI:2.60-16.90). This was confirmed for the genotypic dominant model. Other genetic and/or environmental factors may modify the effect of LOXL1 polymorphisms in certain ethnic groups.
authors.affiliation: Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.|Moorfields Eye Hospital, London, UK.
authors.forename: Panayiota
authors.initials: P
authors.lastname: Founti
authors.affiliation: Department of Hygiene and Epidemiology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Anna-Bettina
authors.initials: AB
authors.lastname: Haidich
authors.affiliation: Department of Biology and Genetics, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Anthoula
authors.initials: A
authors.lastname: Chatzikyriakidou
authors.affiliation: Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Angeliki
authors.initials: A
authors.lastname: Salonikiou
authors.affiliation: Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Eleftherios
authors.initials: E
authors.lastname: Anastasopoulos
authors.affiliation: Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Theofanis
authors.initials: T
authors.lastname: Pappas
authors.affiliation: Department of Biology and Genetics, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Alexandros
authors.initials: A
authors.lastname: Lambropoulos
authors.affiliation: NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust, University College London, Institute of Ophthalmology, London, UK.
authors.forename: Ananth C
authors.initials: AC
authors.lastname: Viswanathan
authors.affiliation: Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Fotis
authors.initials: F
authors.lastname: Topouzis
mesh_terms: D000483:Alleles; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D016001:Confidence Intervals; D005006:Ethnicity / Q000235:genetics; D017889:Exfoliation Syndrome / Q000208:ethnology* / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015233:Models, Statistical; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human
keywords: LOXL1; Pseudoexfoliation syndrome; exfoliation; genetic polymorphisms; glaucoma; pseudoexfoliative glaucoma