Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population

Mori, Keisuke; Horie‐Inoue, Kuniko; Gehlbach, Peter; Takita, Hiroyasu; Kabasawa, Sho; Kawasaki, Izumi; Ohkubo, Tomoko; Kurihara, Susumu; Iizuka, Hiroyuki; Miyashita, Yumi; Katayama, Shigehiro; Awata, Takuya; Yoneya, Shin; Inoue, Satoshi

doi:10.1016/j.ophtha.2009.10.001

Cited by 106 publications

(103 citation statements)

References 49 publications

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“…Other studies have recently reported an association between VEGF SNPs and AMD development, including VEGF-rs2010963 studied here [33,34]. However, in our recent reports, we failed to provide an evidence of the association of these three VEGF SNPs with disease susceptibility [35] and the response to photodynamic therapy treatment [36]. The population-based Rotterdam study, which examined 4,228 participants, also demonstrated no significant association with AMD susceptibility [37], which is consistent to our report [35].…”

Section: Discussionsupporting

confidence: 88%

CFH, VEGF, and PEDF genotypes and the response to intravitreous injection of bevacizumab for the treatment of age-related macular degeneration

Imai

Mori

Horie‐Inoue

et al. 2010

j ocul biol dis inform

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Section: Discussionsupporting

confidence: 88%

CFH, VEGF, and PEDF genotypes and the response to intravitreous injection of bevacizumab for the treatment of age-related macular degeneration

Imai

Mori

Horie‐Inoue

et al. 2010

j ocul biol dis inform

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“…Indeed, our previous study showed a possible association of the coding variants in rs1410996, rather than rs1061170, with susceptibility to PCV [20]. Since the minor allele frequency in rs1061170 is low (5-6%) in the Japanese population, [20,25,27,30] we hypothesized that it would be difficult to detect statistical significance with the limited number of subjects in that study. The present study, however, suggested an independent association of the coding variants in both rs1061170 and rs1410996 with the pathogenesis of PCV in terms of the effects of PDT.…”

Section: Discussionmentioning

confidence: 93%

“…In particular, rs1410996 showed a significant association with both the proportion of PDT responders and non-responders, and with the visual outcome after PDT, whereas rs1061170 (Y402H) did not show any significant association with the visual outcome after PDT. It is interesting that variants in rs1410996 were reported to be associated with neovascular AMD and PCV, predominantly in Asian populations including Japanese [27][28][29][30]. Indeed, our previous study showed a possible association of the coding variants in rs1410996, rather than rs1061170, with susceptibility to PCV [20].…”

Section: Discussionmentioning

confidence: 99%

Positive Association of Complement Factor H Gene Variants with the Effect of Photodynamic Therapy in Polypoidal Choroidal Vasculopathy

Bessho¹,

Honda²,

Kondo³

et al. 2011

J Clinic Experiment Ophthalmol

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Purpose: To clarify the association of complement factor H (CFH) gene polymorphisms with the effects of photodynamic therapy (PDT) in polypoidal choroidal vasculopathy (PCV).Methods: Ninety-three PCV subjects treated with PDT were recruited. Patients who showed anatomical success after the treatments with a single or two consecutive PDT sessions were classified as PDT responders. All others were classified as non-PDT responders. Three single nucleotide polymorphisms (SNPs), rs800292 (I62V), rs1061170 (Y402H) and rs1410996 were genotyped using the TaqMan assay. Results:The genotype and allelic frequency of rs1061170 (Y402H) and rs1410996 were significantly different between PDT responders and non-responders. In these SNPs, the risk alleles for PCV prevalence were beneficial for PDT response. In the time course analysis, the cases with C/C genotype in rs1410996 showed a significant increase of mean visual acuity at 6 and 12 months after the first PDT. Conclusions:The coding variants in CFH may be associated with the effects of PDT in PCV. genetic variations in the CFH region including Asian populations, and the association between these CFH variants and the ability of PDT to regress PCV in a Japanese population was analyzed.

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“…The incidence of AMD and PCV vary according to ethnicity. For example, wet AMD and PCV are more common in Japanese populations compared to Caucasians (16). In a study that assessed the AMD prevalence in Hispanic, black, Chinese, and white patients, wet AMD was reported to be most common among the Chinese population (17).…”

Section: Discussionmentioning

confidence: 99%

Choroidal thickness in healthy Turkish subjects

Coşkun¹,

Okumuş²,

Gürler³

et al. 2014

Turk J Med Sci

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Flow injection cold vapor atomic absorption spectrometry (FI-CVAAS) was used for determination of cadmium in high salt matrices such as dialysis concentrates and textile leach solutions. The parameters such as acidity, concentration of reducing agent, reaction coil length, and carrier gas flow rate were investigated to obtain the best sensitivity. No significant background signal was observed even at high salt concentrations. Under the optimized conditions the limit of detection value (3s b m −1 , where sb is the standard deviation of the blank signals and m is the slope of the calibration graph) was found to be 0.05 ng mL −1 for an injection volume of 250 μ L and the precision in terms of relative standard deviation was 3.2% using 11 consecutive measurements of 0.5 ng mL −1 standard. The standard addition method was used for quantitation. The accuracy of the method was tested using ETAAS as a comparison method and a certified reference material (Waste Water EU-L-1). In both cases, the results were in good agreement at 95% confidence level. The concentrations of cadmium in textile product leach solutions were found to be below the limit value assigned by Oeko-Tex standards.

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Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population

Cited by 106 publications

References 49 publications

CFH, VEGF, and PEDF genotypes and the response to intravitreous injection of bevacizumab for the treatment of age-related macular degeneration

CFH, VEGF, and PEDF genotypes and the response to intravitreous injection of bevacizumab for the treatment of age-related macular degeneration

Positive Association of Complement Factor H Gene Variants with the Effect of Photodynamic Therapy in Polypoidal Choroidal Vasculopathy

Choroidal thickness in healthy Turkish subjects

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