ArticleBMC ophthalmology2014
Common sequence variants in the LOXL1 gene in pigment dispersion syndrome and pigmentary glaucoma.
Article in BMC ophthalmology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 3 of them syntheses that pooled it.
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Who cites it
10 citing papers in PubMed, 3 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- Lack of Association betweenGenes · 2024Pooled it
- Pigment dispersion syndrome and pigmentary glaucoma: overview and racial disparities.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Pooled it
- Associations of polymorphisms of LOXL1 gene with primary open-angle glaucoma: a meta-analysis based on 5,293 subjects.Molecular vision · 2015Pooled it
- Genetic Basis of Pigment Dispersion Syndrome and Pigmentary Glaucoma: An Update and Functional Insights.Genes · 2024Review
- Compound Heterozygous Variants of theFrontiers in genetics · 2022Article
- Pigment dispersion syndrome and pigmentary glaucoma: a review and update.International ophthalmology · 2019Review
- Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.Human molecular genetics · 2019Article
- Molecular Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma: New Insights into Mechanisms.Journal of ophthalmology · 2018Review
- The Genetics and the Genomics of Primary Congenital Glaucoma.BioMed research international · 2015Review
- Pigmentary Glaucoma with Retinochoroidal Pigmentation.Journal of ophthalmic & vision researchArticle
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSingle nucleotide polymorphisms (SNPs) within the LOXL1 gene are associated with pseudoesfoliation syndrome and pseudoesfoliation glaucoma. The aim of our study is to investigate a potential involvement of LOXL1 gene in the pathogenesis of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG).
methodsA cohort of Caucasian origin of 84 unrelated and clinically well-characterised patients with PDS/PG and 200 control subjects were included in the study. Genomic DNA from whole blood was extracted and the coding and regulatory regions of LOXL1 gene were risequenced in both patients and controls to identify unknown sequence variations. Genotype and haplotype analysis were performed with UNPHASED software. The expression levels of LOXL1 were determined on c-DNA from peripheral blood lymphocytes by quantitative real-time RT-PCR.
resultsA significant allele association was detected for SNP rs2304722 within the fifth intron of LOXL1 (Odds ratio (OR = 2.43, p-value = 3,05e-2). Haplotype analysis revealed the existence of risk and protective haplotypes associated with PG-PDS (OR = 3.35; p-value = 1.00e-5 and OR = 3.35; p-value = 1.00e-4, respectively). Expression analysis suggests that associated haplotypes can regulate the expression level LOXL1.
conclusionsHaplotypes of LOXL1 are associated with PG-PDS independently from rs1048661, leading to a differential expression of the transcript.
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