Multiple Gene Polymorphisms in the Complement Factor H Gene Are Associated with Exudative Age-Related Macular Degeneration in Chinese

Ng, Tsz Kin; Chen, Li Jia; Liu, David T.L.; Tam, Peter; Chan, Wai Man; Liu, Ke; Hu, Yi Jun; Chong, Kelvin; Lau, Charles Sing Lok; Chiang, Sylvia W. Y.; Lam, Dennis S.C.; Pang, Chi Pui

doi:10.1167/iovs.07-1517

Cited by 76 publications

(44 citation statements)

References 37 publications

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“…In our study, we did not find an association between CFH genotype and better visual acuity response with the higher-risk TC or CC genotypes after the first 6 months. Previous studies demonstrated that the frequency of the risk allele rs1061170 is high in Caucasians but low in Chinese populations [21,22,23]. This may explain why the present study failed to find any association between this SNP and response to treatment.…”

Section: Discussioncontrasting

confidence: 58%

Genetic Association with Response to Intravitreal Ranibizumab for Neovascular Age-Related Macular Degeneration in the Han Chinese Population

Yuan

Yuan²,

Liu³

et al. 2013

Ophthalmologica

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Purpose: To investigate a possible association between gene variants and patient response to treatment with intravitreal ranibizumab for neovascular age-related macular degeneration (AMD). Methods: Visual acuity score (VAS) was recorded at baseline and a subsequent visit at 6 months. Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined. Central retinal thickness and maximum thickness of the lesion were also measured. Results: A total of 168 neovascular AMD patients treated with intravitreal ranibizumab were included in our study. For HTRA1 rs11200638, mean VAS changes were 3.5, 9.4 and 10.6 letters for the AA, AG and GG genotypes, respectively (p = 0.022). In contrast, for CFH rs1061170 and VEGF rs1413711, mean VAS changes were not significant. However, there was no significant difference in the changes in central retinal thickness and maximum lesion thickness among the genotypes of the tested single-nucleotide polymorphisms. Conclusions: HTRA1 gene polymorphism may influence patient response to treatment with intravitreal ranibizumab for neovascular AMD.

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Section: Discussioncontrasting

confidence: 58%

Genetic Association with Response to Intravitreal Ranibizumab for Neovascular Age-Related Macular Degeneration in the Han Chinese Population

Yuan

Yuan²,

Liu³

et al. 2013

Ophthalmologica

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“…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. However, other multiple CFH variants have been shown to be associated with AMD in Asians [89,91,92,93]. In particular, the CFH I62V variant was significantly associated with AMD (allelic OR = 1.85, 95% CI = 1.63-2.09) in a meta-analysis of Asian cohorts although no significant association of this SNP was established with AMD in Caucasian populations [91].…”

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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“…Multiple independent studies have been performed to assess the association between Y402H and AMD in Asian populations [6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24]; meanwhile, rs1410996 is another polymorphism in the CFH gene, having been substantially reported to be related with AMD risk in Asian populations as well [10,13,17,21,23,24,25,26], but the results are still contradictory and inclusive.…”

Section: Introductionmentioning

confidence: 99%

Association of Two Polymorphisms, rs1061170 and rs1410996, in Complement Factor H with Age-Related Macular Degeneration in an Asian Population: A Meta-Analysis

Guo²,

Ma³

et al. 2016

Ophthalmic Res

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Background: With the increasing number of studies indicating that two single-nucleotide polymorphisms (SNPs), rs1061170 and rs1410996, in complement factor H (CFH) might be associated with the susceptibility to age-related macular degeneration (AMD), the exact association still remains uncertain. Thus, we conducted a meta-analysis to systematically summarize and clarify the association between the two SNPs and the AMD risk particularly in an Asian population. Methods: A systematic search of studies on the association of two SNPs with the susceptibility to AMD was conducted in PubMed, Embase and Web of Science. Summary odds ratios (ORs) and 95% confidence intervals (CIs) of allele contrast and genotype contrast were estimated using the random or fixed effects model. The Q statistic test was used to identify heterogeneity, and the funnel plot was adopted to evaluate publication bias. A total of 19 case-control studies on rs1061170 and 8 studies on rs1410996 were included. Results: Clearly a significantly increased trend of AMD was observed with the rs1061170 (T vs. C: OR = 1.91, 95% CI = 1.71-2.13, p_H = 0.029; TC vs. CC: OR = 2.11, 95% CI = 1.30-3.42, p_H = 0.792; TT vs. CC: OR = 3.90, 95% CI = 2.45-6.22, p_H = 0.774). Similarly, the rs1410996 polymorphism also showed a rising AMD tendency (T vs. C: OR = 1.48, 95% CI = 1.17-1.87, p_H < 0.001; TC vs. CC: OR = 1.52, 95% CI = 1.13-2.04, p_H = 0.002; TT vs. CC: OR = 2.10, 95% CI = 1.27-3.49, p_H < 0.001). What is more, subgroup analysis revealed that both polymorphisms indicated a high risk of nAMD (neovascular AMD) in Asian populations. Conclusions: This meta-analysis suggested that CFH rs1061170 and rs1410996 polymorphisms were associated with AMD risk, both of which demonstrated a higher susceptibility to AMD, especially to nAMD. However, the results of rs1410996 should be interpreted with caution due to the limited sample and heterogeneity. Large-scale and well-designed studies are needed to validate our findings.

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Multiple Gene Polymorphisms in the Complement Factor H Gene Are Associated with Exudative Age-Related Macular Degeneration in Chinese

Cited by 76 publications

References 37 publications

Genetic Association with Response to Intravitreal Ranibizumab for Neovascular Age-Related Macular Degeneration in the Han Chinese Population

Genetic Association with Response to Intravitreal Ranibizumab for Neovascular Age-Related Macular Degeneration in the Han Chinese Population

Polypoidal Choroidal Vasculopathy: Clinical Features and Genetic Predisposition

Association of Two Polymorphisms, rs1061170 and rs1410996, in Complement Factor H with Age-Related Macular Degeneration in an Asian Population: A Meta-Analysis

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