ArticleScientific reports2014
Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.
Article in Scientific reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 3 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome.BMC genomics · 2023Pooled it
- Genome-wide association study of PR interval in Hispanics/Latinos identifies novel locus atHeart (British Cardiac Society) · 2018Pooled it
- Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.Nature genetics · 2017Pooled it
- Advancing Extracellular Vesicle Research: A Review of Systems Biology and Multiomics Perspectives.Proteomics · 2026Review
- Exfoliation syndrome genetics in the era of post-GWAS.Vision research · 2025Review
- Genetic Aspects of Glaucoma: An Updated Review.Current molecular medicine · 2024Review
- Article
- Review
- Multi-Omics Data Integration in Extracellular Vesicle Biology-Utopia or Future Reality?International journal of molecular sciences · 2020Review
- Multi-Omics Approach for Studying Tears in Treatment-Naïve Glaucoma Patients.International journal of molecular sciences · 2019Article
- Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population.Journal of ophthalmology · 2019Article
- Efficient and reliable establishment of lymphoblastoid cell lines by Epstein-Barr virus transformation from a limited amount of peripheral blood.Scientific reports · 2017Article
- A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.Nature genetics · 2015Article
- Review
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The common variants in lysyl oxidase-like 1 gene (LOXL1) are associated with exfoliation glaucoma (XFG) patients developed through exfoliation syndrome (XFS). However, the risk allele of a variant in LOXL1 has been found to be inverted between Asian and Caucasian populations. Therefore, we newly performed a genome-wide association study using 201 XFS/XFG and 697 controls in Japanese, and identified 34 genome-wide significant single-nucleotide polymorphisms (SNPs) distributing in not only LOXL1 but also TBC1D21 and PML at the 15q24.1 locus. These SNPs were confirmed by an independent population consisted of 121 XFS/XFG and 263 controls in Japanese. Moreover, further analyses revealed a unique haplotype structure only from the combination of TBC1D21 and LOXL1 variants showing a high XFS/XFG susceptibility specific for the Asian population. Although there still should be other gene(s) in the other region(s) contributing to the disease process, these results suggested that the combination of newly discovered variants in these genes might be useful for precise XFG risk assessment, as well as for elucidating the molecular mechanism of XFG pathogenesis through XFS.
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