ArticleBMC medical genetics2008
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.
Article in BMC medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 6 of them syntheses that pooled it.
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Who cites it
64 citing papers in PubMed, 6 syntheses or guidelines pooled it, 115 citations in OpenAlex.
- Lack of Association betweenGenes · 2024Pooled it
- LOXL1 gene polymorphisms are associated with exfoliation syndrome/exfoliation glaucoma risk: An updated meta-analysis.PloS one · 2021Pooled it
- Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis.Experimental eye research · 2015Pooled it
- Associations of polymorphisms of LOXL1 gene with primary open-angle glaucoma: a meta-analysis based on 5,293 subjects.Molecular vision · 2015Pooled it
- Pooled it
- Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma.Molecular vision · 2010Pooled it
- Minimal phenotypes in transgenic mice with the human LOXL1/LOXL1-AS1 locus associated with exfoliation glaucoma.Vision research · 2024Article
- MicroRNA profiles in aqueous humor between pseudoexfoliation glaucoma and normal tension glaucoma patients in a Korean population.Scientific reports · 2022Article
- Article
- LOXL1 folding in exfoliation glaucoma.Advances in protein chemistry and structural biology · 2019Review
- Three Single Nucleotide Polymorphisms ofTurkish journal of ophthalmology · 2018Article
- A Role for Clusterin in Exfoliation Syndrome and Exfoliation Glaucoma?Journal of glaucoma · 2018Review
- Exfoliation Syndrome: A Disease of Autophagy and LOXL1 Proteopathy.Journal of glaucoma · 2018Review
- Molecular Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma: New Insights into Mechanisms.Journal of ophthalmology · 2018Review
- Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome.Clinical ophthalmology (Auckland, N.Z.) · 2016Article
- LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients.BMC medical genetics · 2015Article
- A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.Nature genetics · 2015Article
- Evaluation of genetic polymorphisms in clusterin and tumor necrosis factor-alpha genes in South Indian individuals with pseudoexfoliation syndrome.Current eye research · 2015Article
- The association of LOXL1 polymorphisms with exfoliation syndrome/glaucoma: Meta-analysis.International journal of ophthalmology · 2015Article
- Lysyl oxidase-like 1 gene in the reversal of promoter risk allele in pseudoexfoliation syndrome.JAMA ophthalmology · 2014Article
4 more citing papers are in PubMed but not listed here.
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12 authors at 3 institutions in 1 country.
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Abstract
backgroundPseudoexfoliation 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.
methodsThree 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.
resultsThe 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 x 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 x 10-12; OR = 23.57, 95%CI: 7.95, 69.85). None of the SNPs were significantly associated with primary open angle glaucoma.
conclusionThe 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.
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