A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population

Tanimoto, S.; Tamura, Hisashi; Ue, T.; Yamane, Kunio; Makino, Hírofumi; Kawakami, Hideshi; Kiuchi, Yoshiaki

doi:10.1016/j.neulet.2006.12.011

Cited by 41 publications

(21 citation statements)

References 28 publications

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“…20 ARMS2/HTRA1 rs3793917 has also been identified as a risk factor of nAMD in different ethnic groups. 35,37,38 Several studies have been performed to explore the interactions between CFH, ARMS2, or HTRA1 as risk factors in nAMD, but the results have been conflicting: some studies provided the evidence that the three genes appeared to be independent contributors to nAMD, 16,39,40 but others suggested otherwise. 41 Moreover, few studies explore the interactions of CFH, ARMS2, and HTRA1 in the development of PCV in Chinese population.…”

Section: Discussionmentioning

confidence: 99%

Gene–gene interaction of CFH, ARMS2, and ARMS2/HTRA1 on the risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in Chinese population

Huang

Meng

Zhang

et al. 2015

Eye

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Purpose To evaluate the association and interaction of five single-nucleotide polymorphisms (SNPs) in three genes (CFH, ARMS2, and ARMS2/HTRA1) with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in Chinese population. Methods A total of 300 nAMD and 300 PCV patients and 301 normal subjects participated in the present study. The allelic variants of rs800292, rs2274700, rs3750847, rs3793917, and rs1065489 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). Gene-gene interactions were evaluated by the data mining approach multifactor-dimensionality reduction (MDR) method. Results The risk alleles of CFH rs800292, rs2274700, ARMS2 rs3057847, and ARMS2/ HTRA1 rs3793917 showed significant difference between nAMD or PCV patients and controls (all Po0.01). The homozygosity of risk alleles for rs800292, rs2274700, rs3750847, and rs3793917 were significantly different between nAMD patients and controls (all Po0.01), and predisposed to PCV patients (all Po0.01). After cross-validation consistency (CVC) and permutation tests, the two-locus model rs2274700_rs3750847 has a balanced accuracy of 64.37% in predicting nAMD disease risk. The one-marker model, rs3750847, and two-locus model rs2274700_rs3750847 has a balanced accuracy of 66.07% and 65.89% in predicting PCV disease risk, respectively. Furthermore, CFH rs1065489 did not show significant association with nAMD (P40.01), but was strongly associated with PCV in Chinese patients (Po0.001).Conclusions In this study, we found that the interaction of ARMS2 and ARMS2/HTRA1 is significantly associated with nAMD, and the interaction of CFH and ARMS2 is pronounced in PCV development in Chinese population.

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Section: Discussionmentioning

confidence: 99%

Gene–gene interaction of CFH, ARMS2, and ARMS2/HTRA1 on the risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in Chinese population

Huang

Meng

Zhang

et al. 2015

Eye

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“…The A69S polymorphism (rs 10490924) within the gene LOC387715 on chromosome 10q26 that leads to an alanine-to-serine substitution was also found to confer an increased risk for development of AMD. (33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44)(45)(46)(47)(48)(49)(50) Some papers suggested that the vascular endothelial growth factor (VEGF) gene could play a role in the pathogenesis of AMD. (51,58) However, many different single nucleotide polymorphisms (SNPs) were tested and limited sample sizes and diverse ethnic origin of cases and controls were studied to ensure a statistically valid conclusion.…”

Section: Introductionmentioning

confidence: 99%

Importance of genetic polymorphisms in the response to age-related macular degeneration treatment

Veloso¹,

Almeida²,

Marco³

et al. 2012

Rev. bras.oftalmol.

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Age-related macular degeneration (AMD) is a degenerative disorder that affects the central retina and involves the Bruch's membrane, the retinal pigment epithelium and the photoreceptors. Recent studies have shown that polymorphisms of the CFH, LOC387715 and VEGF genes are associated with AMD. Herein, we review the literature to analyze the association between the main genetic polymorphisms and the response to the existing therapeutic modalities. Patients with CFH high-risk alleles show a poorer response to preventive treatment of AMD with antioxidants and zinc. The association between genetic polymorphisms and response to photodynamic therapy and antiangiogenic drugs, however, is controversial until now.Keywords: Macular degeneration/genetics; Antioxidants; Polymorphism, genetic; Treatment outcome RESUMOA degeneração macular relacionada à idade (DMRI) é uma doença degenerativa que afeta a retina central e envolve a membrana de Bruch, o epitélio pigmentar da retina e os fotorreceptores. Estudos recentes têm mostrado que polimorfismos dos genes CFH, LOC387715 e VEGF estão associados com a DMRI. Neste trabalho, é feita uma revisão da literatura para análise da associação entre os principais polimorfismos genéticos e a resposta às diferentes modalidades terapêuticas existentes. Observa-se que os pacientes portadores dos alelos de risco do gene CFH apresentam uma pior resposta ao tratamento preventivo da DMRI com antioxidantes e zinco. Já a associação entre o polimorfismo genético e a resposta à terapia fotodinâmica e às drogas antiangiogênicas é, até o momento, controversa.

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“…Recent progress in AMD genetics has established several important risk loci, among them the complement factor H (CFH) on chromosome 1 (1q31) (Edwards et al 2005;Hageman et al 2005Hageman et al , 2006Hughes et al 2006;Klein et al 2005;Li et al 2006) and the age-related maculopathy susceptibility 2 (ARMS2/HTRA1) on chromosome 10 (10q26) (Dewan et al 2006;Jakobsdottir et al 2005;Rivera et al 2005;Schmidt et al 2006;Tanimoto et al 2007;Weger et al 2007;Yang et al 2006). Both loci combined are thought to account for more than 50 % of AMD cases (Edwards et al 2005;Klein et al 2005;Maller et al 2006;Swaroop et al 2007;Thakkinstian et al 2006).…”

Section: Introductionmentioning

confidence: 99%

Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD)

Oczos

Grimm

Barthelmes

et al. 2012

AGE

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Physiological stress response and oxidative damage are factors for aging processes and, as such, are thought to contribute to neovascular age-related macular degeneration (AMD). Paraoxonase 1 (PON1) is an enzyme that plays an important role in oxidative stress and aging. We investigated association of DNA sequence variants (SNP) within the upstream regulatory region of the PON1 gene with neovascular AMD in 305 patients and 288 controls. Four of the seven tested SNPs (rs705379, rs705381, rs854573, and rs757158) were more frequently found in AMD patients compared to controls (P00.0099, 0.0295, 0.0121, and 0.0256, respectively), and all but one (SNP rs757158) are in linkage disequilibrium. Furthermore, haplotype TGGCCTC conferred protection (odds ratio (OR)00.76, (CI)00.60-0.97) as it was more frequently found in control individ- AGE (2013) uals, while haplotype CGATGCT increased the risk (OR01.55, CI01.09-2.21) for AMD. These results were also reflected when haplotypes for the untranscribed and the 5′untranslated regions (5′UTR) were analyzed separately. To assess haplotype correlation with levels of gene expression, the three SNPs within the 5′UTR were tested in a luciferase reporter assay. In retinal pigment epithelium-derived ARPE19 cells, we were able to measure significant differences in reporter levels, while this was not observed in kidney-derived HEK293 cells. The presence of the risk allele A (SNP rs705381) caused an increase in luciferase activity of approximately twofold. Our data support the view that inflammatory reactions mediated through anti-oxidative activity may be relevant to neovascular age-related macular degeneration.

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A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population

Cited by 41 publications

References 28 publications

Gene–gene interaction of CFH, ARMS2, and ARMS2/HTRA1 on the risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in Chinese population

Gene–gene interaction of CFH, ARMS2, and ARMS2/HTRA1 on the risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in Chinese population

Importance of genetic polymorphisms in the response to age-related macular degeneration treatment

Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD)

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