Association of Toll-like Receptor 4 Gene Polymorphisms with Normal Tension Glaucoma

Shibuya, Etsuko; Meguro, Akira; Ôta, Masao; Kashiwagi, Kenji; Mabuchi, Fumihiko; Iijima, Hiroyuki; Kawase, Kazuhide; Yamamoto, Tetsuya; Nakamura, Makoto; Negi, Akira; Sagara, Takeshi; Nishida, Teruo; Inatani, Masaru; Tanihara, Hidenobu; Aihara, Makoto; Araie, Makoto; Fukuchi, Takeo; Abe, Haruki; Higashide, Tomomi; Sugiyama, Kazuhisa; Kanamoto, Takashi; Kiuchi, Yoshiaki; Iwase, Aiko; Ohno, Shigeaki; Inoko, Hidetoshi; Mizuki, Nobuhisa

doi:10.1167/iovs.07-1575

Cited by 96 publications

(70 citation statements)

References 37 publications

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“…The criteria used to diagnose NTG have been described previously. 15 Patients exhibiting comparatively early-onset NTG were selected for this study. Advancing age is a major risk factor for glaucoma.…”

Section: Participantsmentioning

confidence: 99%

Association study of genetic variants on chromosome 7q31 with susceptibility to normal tension glaucoma in a Japanese population

Kato

Meguro

Nomura

et al. 2013

Eye

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The caveolin 1 to caveolin 2 (CAV1-CAV2) gene region on chromosome 7q31 has been reported to be associated with susceptibility to primary open angle glaucoma (POAG) and normal tension glaucoma (NTG) in previous studies. We investigated whether genetic variants in the CAV1-CAV2 region are associated with NTG in Japanese patients. Two hundred and ninety-two Japanese patients with NTG and 352 Japanese healthy controls were recruited. We genotyped three singlenucleotide polymorphisms; that is, rs1052990, rs4236601, and rs7795356, in the CAV1-CAV2 gene region and assessed the allelic diversity among cases and controls. The frequency of the minor allele (G) of rs1052990 was significantly decreased in NTG cases compared with controls (P ¼ 0.014, OR ¼ 0.71), whereas NTG or POAG cases had a significantly higher frequency of the allele than controls in previous studies. Conversely, rs7795356 did not show any significant association with NTG cases, and rs4236601 was monomorphic in the Japanese study population. Our findings did not correspond with previous positive results, suggesting that CAV1-CAV2 variants studied in the present study are not important risk factors for NTG susceptibility in all populations. Further studies are needed to elucidate the possible contribution of the CAV1-CAV2 region to the development of glaucoma.

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Section: Participantsmentioning

confidence: 99%

Association study of genetic variants on chromosome 7q31 with susceptibility to normal tension glaucoma in a Japanese population

Kato

Meguro

Nomura

et al. 2013

Eye

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“…They found that TrkB signaling is not required for survival of RGCs during the period of target-dependent survival, but does appear to reduce degeneration of RGCs in adult animals. 102 Other loci, genes, and low-penetrance risk alleles associated with POAG 105 optic atrophy 1 (OPA1) gene at 3q28-q29, 106 and tumor protein p53 (TP53) at 17p13.1. 107 CYP1B1 at 2p22-p21 has been associated with JOAG first by Vincent et al 108 and later by other investigators as well.…”

Section: Wdr36 At the Glc1g Locusmentioning

confidence: 99%

Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment

Gemenetzi

Yang

Lotery

2011

Eye

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“…Because we combined the patients from both subtypes as a single case group to obtain a larger sample size, the genetic loci identified in this study are most likely to be components of the molecular mechanism underlying a particular neurodegenerative pathway. If we divided the samples into the classic POAG and NTG subtypes and carried out separate GWASs with enough power to detect associations, we might be able to identify genetic loci or molecule(s) that are associated with mechanisms of pathogenesis and/or progression specific to the NTG subtype, such as the genes described in the previous reports (28,29), at least some of which would probably be related to the control of IOP.…”

Section: ϫ7mentioning

confidence: 99%

Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population

Nakano¹,

Ikeda

Taniguchi

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

100

109

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Primary open-angle glaucoma (POAG) is the major type of glaucoma. To discover genetic markers associated with POAG, we examined a total of 1,575 Japanese subjects in a genome-wide association study (stage 1) and a subsequent study (stage 2). Both studies were carried out at a single institution. In the stage 1 association study, we compared SNPs between 418 POAG patients and 300 control subjects. First, low-quality data were eliminated by a stringent filter, and 331,838 autosomal SNPs were selected for analysis. Poorly clustered SNPs were eliminated by a visual assessment, leaving 255 that showed a significant deviation (P < 0.001) in the allele frequency comparison. In the stage 2 analysis, we tested these 255 SNPs for association in DNA samples from a separate group of 409 POAG and 448 control subjects. High-quality genotype data were selected and used to calculate the combined P values of stages 1 and 2 by the Mantel-Haenszel test. These analyses yielded 6 SNPs with P < 0.0001. All 6 SNPs showed a significant association (P < 0.05) in stage 2, demonstrating a confirmed association with POAG. Although we could not link the SNPs to the annotated gene(s), it turned out that we have identified 3 genetic loci probably associated with POAG. These findings would provide the foundation for future studies to build on, such as for the metaanalysis, to reveal the molecular mechanism of the POAG pathogenesis.diagnosis ͉ SNP ͉ GWAS ͉ meta-analysis ͉ glaucoma genetics

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Association of Toll-like Receptor 4 Gene Polymorphisms with Normal Tension Glaucoma

Abstract: Multiple SNPs in the TLR4 gene are associated with the risk of NTG. This finding suggests that the ligands and/or cytokines involved in the TLR4 signaling network may be risk factors for the development of NTG.

Cited by 96 publications

References 37 publications

Association study of genetic variants on chromosome 7q31 with susceptibility to normal tension glaucoma in a Japanese population

Association study of genetic variants on chromosome 7q31 with susceptibility to normal tension glaucoma in a Japanese population

Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment

Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population

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