ArticleMolecular vision2008
LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01515735 (Evaluation of LOXL1 Polymorphism in Pseudoexfoliation Syndrome in the Korean Population), which is not on this map. Cited by 50 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Evaluation of LOXL1 Polymorphism in Pseudoexfoliation Syndrome in the Korean Population
Who cites it
50 citing papers in PubMed, 4 syntheses or guidelines pooled it, 76 citations in OpenAlex.
- Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome.BMC genomics · 2023Pooled it
- LOXL1 gene polymorphisms are associated with exfoliation syndrome/exfoliation glaucoma risk: An updated meta-analysis.PloS one · 2021Pooled it
- Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.Nature genetics · 2017Pooled it
- Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma.Molecular vision · 2010Pooled it
- Review
- Review
- Association ofIranian journal of public health · 2019Article
- Three Single Nucleotide Polymorphisms ofTurkish journal of ophthalmology · 2018Article
- Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1.Nature communications · 2017Article
- Efficient and reliable establishment of lymphoblastoid cell lines by Epstein-Barr virus transformation from a limited amount of peripheral blood.Scientific reports · 2017Article
- Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome.Clinical ophthalmology (Auckland, N.Z.) · 2016Article
- Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.Human molecular genetics · 2015Article
- 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
- 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
- Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.Scientific reports · 2014Article
- Common sequence variants in the LOXL1 gene in pigment dispersion syndrome and pigmentary glaucoma.BMC ophthalmology · 2014Article
- Consideration for gene-environment interactions as novel determinants of exfoliation syndrome.International ophthalmology clinics · 2014Review
- Genetics of exfoliation syndrome and glaucoma.International ophthalmology clinics · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe performed genetic association studies using a native Japanese population to examine the reproducibility of results of lysyl oxidase-like 1 (LOXL1) genetic association studies for exfoliation glaucoma (XFG) beyond the differences of ethnicity. We also quantified LOXL1 mRNA expression in the human lens capsule to examine the possible correlation between LOXL1 expression and XFG pathogenesis.
methodsWe performed a case-control study using 95 Japanese XFG patients and 190 controls. Real-time polymerase chain reaction (PCR) analysis was performed using lens capsules obtained during surgery.
resultsThe TT genotype in the single nucleotide polymorphism (SNP) rs1048661 and the GG genotype in the SNP rs3825942 in exon 1 of LOXL1 were significantly associated with an increased risk of XFG under recessive models (chi(2) test, p=5.34 x 10(-34) and p=2.1 x 10(-8), respectively). Quantification of LOXL1 mRNA expression demonstrated no significant difference between XFG and senile cataract samples.
conclusionsAlthough the functional effects of the LOXL1 SNP appear to be qualitative rather than quantitative, the amino acid substitution (R141L) caused by SNP rs1048661 is not a simple decisive factor for XFG due to the inverted allele frequency between Japanese XFG and Caucasian XFG patients. Further genetic and functional studies are essential for clarifying XFG pathogenesis.
Indexed as
Identifiers
18552979PMC2426718W2129985653What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.