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LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population

PURPOSE: We 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 t...

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Autores principales: Mori, Kazuhiko, Imai, Kojiro, Matsuda, Akira, Ikeda, Yoko, Naruse, Shigeta, Hitora-Takeshita, Hisako, Nakano, Masakazu, Taniguchi, Takazumi, Omi, Natsue, Tashiro, Kei, Kinoshita, Shigeru
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2426718/
https://www.ncbi.nlm.nih.gov/pubmed/18552979
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author Mori, Kazuhiko
Imai, Kojiro
Matsuda, Akira
Ikeda, Yoko
Naruse, Shigeta
Hitora-Takeshita, Hisako
Nakano, Masakazu
Taniguchi, Takazumi
Omi, Natsue
Tashiro, Kei
Kinoshita, Shigeru
author_facet Mori, Kazuhiko
Imai, Kojiro
Matsuda, Akira
Ikeda, Yoko
Naruse, Shigeta
Hitora-Takeshita, Hisako
Nakano, Masakazu
Taniguchi, Takazumi
Omi, Natsue
Tashiro, Kei
Kinoshita, Shigeru
author_sort Mori, Kazuhiko
collection PubMed
description PURPOSE: We 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. METHODS: We 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. RESULTS: The 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 (χ(2) test, p=5.34×10(−34) and p=2.1×10(−8), respectively). Quantification of LOXL1 mRNA expression demonstrated no significant difference between XFG and senile cataract samples. CONCLUSIONS: Although 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.
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spelling pubmed-24267182008-06-13 LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population Mori, Kazuhiko Imai, Kojiro Matsuda, Akira Ikeda, Yoko Naruse, Shigeta Hitora-Takeshita, Hisako Nakano, Masakazu Taniguchi, Takazumi Omi, Natsue Tashiro, Kei Kinoshita, Shigeru Mol Vis Research Article PURPOSE: We 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. METHODS: We 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. RESULTS: The 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 (χ(2) test, p=5.34×10(−34) and p=2.1×10(−8), respectively). Quantification of LOXL1 mRNA expression demonstrated no significant difference between XFG and senile cataract samples. CONCLUSIONS: Although 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. Molecular Vision 2008-06-05 /pmc/articles/PMC2426718/ /pubmed/18552979 Text en http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Mori, Kazuhiko
Imai, Kojiro
Matsuda, Akira
Ikeda, Yoko
Naruse, Shigeta
Hitora-Takeshita, Hisako
Nakano, Masakazu
Taniguchi, Takazumi
Omi, Natsue
Tashiro, Kei
Kinoshita, Shigeru
LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population
title LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population
title_full LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population
title_fullStr LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population
title_full_unstemmed LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population
title_short LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population
title_sort loxl1 genetic polymorphisms are associated with exfoliation glaucoma in the japanese population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2426718/
https://www.ncbi.nlm.nih.gov/pubmed/18552979
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