Complement Factor H Y402H Variant and Risk of Age-Related Macular Degeneration in Asians: A Systematic Review and Meta-Analysis

Kondo, Naoshi; Bessho, Hiroaki; Honda, Shigeru; Negi, Akira

doi:10.1016/j.ophtha.2010.06.040

Cited by 57 publications

(35 citation statements)

References 35 publications

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“…Thus, we conducted a systematic meta-analysis to further identify the correlation between them, representing a pooled total of 19 case-control studies involving 7,716 subjects for rs1061170 and 8 case-control studies including 3,625 subjects for rs1410996. Consistently with a previous meta-analysis focused on the association between rs1061170 and AMD [27], an obviously increased effect has been found between rs1061170 and AMD susceptibility in any genetic model. What is more, this rising trend became more noticeable in the subgroup analysis by the type nAMD.…”

Section: Discussionsupporting

confidence: 87%

“…In addition, as for the polymorphism rs1061170, only one meta-analysis-based study [27] investigating the impact of Y402H on AMD for Asian populations was published to date, incorporating only 13 raw studies on the deadline of 2010, after which 9 new records with diverse and meaningful results emerged; thus, it is extremely necessary to perform another meta-analysis dealing with more related studies. Moreover, this is the first meta-analysis to clarify the relation between rs1410996 and AMD.…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 87%

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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“…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. However, other multiple CFH variants have been shown to be associated with AMD in Asians [89,91,92,93].…”

Section: Genetic Factorsmentioning

confidence: 99%

“…The risk/benefit effects of CFH Y402H regarding the treatment outcome might be changed by the proportion of AMD phenotypes at baseline or by the duration of the follow-up period. Moreover, the association of CFH Y402H with the outcome of IVR might be different between Caucasians and Asians, since the frequency of the C allele is very low in Asian populations [90]. Although Chang et al [158] and Yamashiro et al [147] reported a relatively better visual outcome (though not significantly better) in the C-rich genotypes than the others for CFH Y402H in the Asian populations, additional meta-analyses will be required to conclude the association of CFH Y402H with the visual outcome of IVR in Asians, particularly in PCV cases.…”

Section: Response To Treatmentmentioning

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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“…[102][103][104] CFH expression is significantly downregulated in the degenerating brain and retina, suggesting that insufficient quantities of this RCA regulator lead to excessive activation of the innate immune response and proinflammatory signaling. [105][106][107][108][109][110][111][112][113][114][115][116][117] There are many shared pathologic characteristics of Alzheimer's disease (AD) and AMD, including decreases and/or dysfunction in CFH. 118 CFH inhibits alternative pathway activation both in plasma and on cell surfaces by promoting C3b proteolysis.…”

Section: Mirnas As Regulators Of the Inflammatory Process An Importamentioning

confidence: 99%

The role of epigenetics in age-related macular degeneration

Gemenetzi

Lotery

2014

Eye

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It is becoming increasingly evident that epigenetic mechanisms influence gene expression and can explain how interactions between genetics and the environment result in particular phenotypes during development. The extent to which this epigenetic effect contributes to phenotype heritability in age-related macular degeneration (AMD) is currently ill defined. However, emerging evidence suggests that epigenetic changes are relevant to AMD and as such provide an exciting new avenue of research for AMD. This review addresses information on the impact of posttranslational modification of the genome on the pathogenesis of AMD, such as DNA methylation changes affecting antioxidant gene expression, hypoxia-regulated alterations in chromatin structure, and histone acetylation status in relation to angiogenesis and inflammation. It also contains information on the role of non-coding RNA-mediated gene regulation in AMD at a posttranscriptional (before translation) level. Our aim was to review the epigenetic mechanisms that cause heritable changes in gene activity without changing the DNA sequence. We also describe some long-term alterations in the transcrip-

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Complement Factor H Y402H Variant and Risk of Age-Related Macular Degeneration in Asians: A Systematic Review and Meta-Analysis

Cited by 57 publications

References 35 publications

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

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

Polypoidal Choroidal Vasculopathy: Clinical Features and Genetic Predisposition

The role of epigenetics in age-related macular degeneration

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