Coding and Noncoding Variants in the<i>CFH</i>Gene and Cigarette Smoking Influence the Risk of Age-Related Macular Degeneration in a Japanese Population

Mori, Keisuke; Gehlbach, Peter; Kabasawa, Sho; Kawasaki, Izumi; Oosaki, M.; Iizuka, Hiroyuki; Katayama, Shigehiro; Awata, Takuya; Yoneya, Shin

doi:10.1167/iovs.07-0426

Cited by 67 publications

(51 citation statements)

References 34 publications

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“…However, the CFH Y402H variant shows apparent ethnic differences in its association with AMD because of the frequency of the risk allele (C allele); the risk allele frequency is 0.38 in Caucasians in the HapMap database [85], but it is 0.057 in the Japanese population and 0.067 in the Chinese population. Hence, CFH Y402H shows a strong association with AMD in Caucasians, but it was difficult to detect a positive association with Asian AMD cases owing to a limitation in statistical power [86,87,88,89]. Recently, large population studies and meta-analyses came to identify the CFH Y402H variant as a significant genetic risk factor in Asian AMD [20,90], although the susceptibility conferred by the Y402H variant may not translate across ethnic lines.…”

Section: Genetic Factorsmentioning

confidence: 99%

Polypoidal Choroidal Vasculopathy: Clinical Features and Genetic Predisposition

2013

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Polypoidal choroidal vasculopathy (PCV) is currently recognized as a phenotype of age-related macular degeneration (AMD). PCV is believed to be a type of choroidal neovascularization, although some cases of PCV show a distinct vascular abnormality of the choroidal vessels. PCV often shows several unique clinical manifestations which are apparently different from typical neovascular AMD (tAMD). In addition, the natural course and response to treatment are often different between tAMD and PCV. Moreover, recent genetic studies suggested a possible difference in the genetic susceptibility to disease between tAMD and PCV, as well as the existence of heterogeneity among PCV cases. In viewing the accumulation of knowledge about PCV, we have summarized the recent literature regarding PCV in this review article to improve the understanding of this clinical entity including possible susceptibility genes. We will also discuss the optimal treatment strategies for PCV in accordance with the results of recent clinical and genetic studies.

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Section: Genetic Factorsmentioning

confidence: 99%

Polypoidal Choroidal Vasculopathy: Clinical Features and Genetic Predisposition

2013

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“…The Y402H SNP of CFH as a genetic risk factor for AMD is not consistently replicated in some case-control studies in the Asian population [62,63,64,65,66,67,68,69,70,71,72]. This lack of a consistent association could be explained by the lower MAF in this population compared with Caucasian populations.…”

Section: Genetic Factors Associated With Amdmentioning

confidence: 74%

Genetic Factors Associated with Age-Related Macular Degeneration

et al. 2011

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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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Coding and Noncoding Variants in theCFHGene and Cigarette Smoking Influence the Risk of Age-Related Macular Degeneration in a Japanese Population

Abstract: Although the Y402H variant was not significantly associated with AMD, other coding and noncoding variants in the CFH gene including rs1410996 and smoking moderately influenced the risk of AMD in a Japanese population.

Cited by 67 publications

References 34 publications

Polypoidal Choroidal Vasculopathy: Clinical Features and Genetic Predisposition

Polypoidal Choroidal Vasculopathy: Clinical Features and Genetic Predisposition

Genetic Factors Associated with Age-Related Macular Degeneration

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

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