CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation.

@article{Hayashi2010CFHAA,
  title={CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation.},
  author={H. Hayashi and K. Yamashiro and N. Gotoh and H. Nakanishi and I. Nakata and A. Tsujikawa and A. Otani and M. Saito and T. Iida and K. Matsuo and K. Tajima and R. Yamada and N. Yoshimura},
  journal={Investigative ophthalmology \& visual science},
  year={2010},
  volume={51 11},
  pages={
          5914-9
        }
}
PURPOSE To seek an association in Japanese individuals between the CFH polymorphisms Y402H and I62V and the ARMS2 polymorphism A69S and age-related macular degeneration (AMD) or its three subtypes: typical (t)AMD, polypoidal choroidal vasculopathy (PCV), and retinal angiomatous proliferation (RAP). METHODS The three polymorphisms were genotyped in a case-control study of 1351 control subjects and 962 patients with AMD. RESULTS The three polymorphisms correlated with AMD (Y402H, P = 1.54… Expand
Difference between age-related macular degeneration and polypoidal choroidal vasculopathy in the hereditary contribution of the A69S variant of the age-related maculopathy susceptibility 2 gene (ARMS2)
TLDR
A meta-analysis of previous studies representing an assessment of the association between the ARMS2 A69S variant and neovascular AMD and/or PCV provides substantial evidence that the ARms2 A 69S variant confers a significantly higher risk of neov vascular AMD than PCV. Expand
Associations of ARMS2 and CFH Gene Polymorphisms with Neovascular Age-Related Macular Degeneration
TLDR
The findings indicate that ARMS2 A69S and ARMS 2 del443ins54 polymorphisms are strongly associated with the risk of nAMD for the first time in an Indonesian population. Expand
Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population.
TLDR
C2/CFB variants play a protective role in the risk of developing neovascular AMD and PCV in the Japanese and are significantly associated with typical AMD andPCV in this Japanese sample. Expand
Genetic and Functional Dissection of ARMS2 in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy
TLDR
There is a strong and consistent association of the ARMS2/HTRA1 locus with both nAMD and PCV, suggesting the two disorders share, at least partially, similar molecular mechanisms. Expand
Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy.
TLDR
PCV may be genetically divisible into polypoidal CNV and typical PCV, and the rs10490924 variant of the ARMS2 gene was shown to be associated with polypoid CNV, a potential marker for typical CNV. Expand
The association of age-related maculopathy susceptibility 2 polymorphisms with phenotype in typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy
TLDR
ARMS2 variants are likely associated with the phenotype and the effects of PDT in tAMD and PCV and the additive model of the G allele at rs10490924 was associated with a significantly better BCVA 12 months after the first PDT. Expand
Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations
TLDR
A significant genetic association between the major AMD susceptibility genes and PCV across Asian populations suggests that AMD and PCVs, despite different phenotypic manifestation, may share common genetic risk factors. Expand
Genetic Variants in the SKIV2L Gene in Exudative Age-related Macular Degeneration in the Japanese Population
TLDR
A SKIV2L variant was associated with protection against exudative AMD regardless of subtypes in the Japanese population. Expand
Association between the SERPING1 Gene and Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in Japanese
TLDR
The results suggest that SERPING1 does not play a significant role in the risk of developing AMD or PCV in Japanese. Expand
Differentiation of exudative age-related macular degeneration and polypoidal choroidal vasculopathy in the ARMS2/HTRA1 locus.
TLDR
There is a strong and consistent association of the ARMS2/HTRA1 locus with both exudative AMD and PCV, suggesting the two disorders share, at least partially, similar molecular mechanisms. Expand
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TLDR
The de1443ins54 polymorphism, a functional polymorphism causing an instability of the messenger ribonucleic acid of ARMS2 in the Japanese, is strongly associated not only with AMD but also with PCV. Expand
LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population.
TLDR
The LOC387715/HTRA1 variants are associated with PCV and wet AMD in the Japanese population, and the associations are stronger in AMD than in PCV. Expand
No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese
TLDR
The frequency of the C allele of rs1061170 (Y402H) is much lower in Japanese controls than in Caucasians, and CFH does not appear to be a primary hereditary contributor to ARMD in Japanese. Expand
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TLDR
Y402H polymorphism which has been suggested to be a major risk factor of AMD in Caucasians was found to be only marginally associated with exudative AMD with low frequency, whereas three adjacent SNPs in the CFH gene were significantly associated with AMD in Koreans. Expand
Association of complement factor H polymorphisms with exudative age-related macular degeneration.
TLDR
Differences in the association between the CFH gene and exudative AMD in Chinese from Caucasians and Japanese are found and SNP rs3753394 in theCFH promoter carrying a significantly increased risk for exudatives AMD is detected. Expand
Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy.
TLDR
The SNPs rs3753394 and rs800292 of CFH and rs11200638 of HTRA1 are significantly associated with the risk of PCV in Chinese patients. Expand
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA
TLDR
The data suggest that ARMS2 has a key role in AMD, possibly through mitochondria-related pathways, and a mitochondrial association of the normal protein is demonstrated and its retinal localization to the ellipsoid region of the photoreceptors is defined. Expand
Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age-related macular degeneration.
TLDR
The CFH polymorphism Tyr402His appears indicative of AMD pathogenesis and could be used as a potential marker for predictive testing across continents. Expand
Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers.
TLDR
The CFH Y402H variant is strongly associated with both GA and CNV in the U.K. population, and heavier smokers with the CC genotype may be at particular risk. Expand
Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population.
TLDR
The results suggest the contribution of the Y402H polymorphism of the CFH gene to exudative AMD susceptibility also in the French population, which may lead to early detection and new strategies for prevention and treatment of AMD. Expand
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