Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-06-18

AUTHORS

Masakazu Nakano, Yoko Ikeda, Yuichi Tokuda, Masahiro Fuwa, Morio Ueno, Kojiro Imai, Ryuichi Sato, Natsue Omi, Hiroko Adachi, Masaaki Kageyama, Kazuhiko Mori, Shigeru Kinoshita, Kei Tashiro

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. More... »

PAGES

5340

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/srep05340

DOI

http://dx.doi.org/10.1038/srep05340

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020483214

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24938310


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35 schema:description 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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42 Caucasian population
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44 Japanese
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49 XFG
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52 alleles
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56 combination
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58 control
59 disease process
60 exfoliation glaucoma
61 exfoliation glaucoma patients
62 exfoliation syndrome
63 genes
64 genome-wide significant single nucleotide polymorphisms
65 glaucoma
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67 haplotype structure
68 haplotypes
69 independent populations
70 loci
71 lysyl
72 mechanism
73 molecular mechanisms
74 novel common variants
75 pathogenesis
76 patients
77 polymorphism
78 population
79 process
80 results
81 risk alleles
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83 significant single nucleotide polymorphisms
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