Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis

Zhu, Jing; Yao, Yong; Sun, Chao

doi:10.1042/bsr20200406

Cited by 11 publications

(7 citation statements)

References 83 publications

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“…The CFI gene produces a serine proteinase that is crucial to the complement control [ 74 ]. The rs2285714 carriers have been proven to be powerfully associated with AMD risk [ 44 ], and the mutation may serve as a biomarker [ 45 ], while rs10033900 may reduce the risk of AMD.…”

Section: Resultsmentioning

confidence: 99%

Genetic Aspects of Age-Related Macular Degeneration and Their Therapeutic Potential

Stradiotto

Allegrini

Fossati

et al. 2022

IJMS

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Age-related macular degeneration (AMD) is a complex and multifactorial disease, resulting from the interaction of environmental and genetic factors. The continuous discovery of associations between genetic polymorphisms and AMD gives reason for the pivotal role attributed to the genetic component to its development. In that light, genetic tests and polygenic scores have been created to predict the risk of development and response to therapy. Still, none of them have yet been validated. Furthermore, there is no evidence from a clinical trial that the determination of the individual genetic structure can improve treatment outcomes. In this comprehensive review, we summarize the polymorphisms of the main pathogenetic ways involved in AMD development to identify which of them constitutes a potential therapeutic target. As complement overactivation plays a major role, the modulation of targeted complement proteins seems to be a promising therapeutic approach. Herein, we summarize the complement-modulating molecules now undergoing clinical trials, enlightening those in an advanced phase of trial. Gene therapy is a potential innovative one-time treatment, and its relevance is quickly evolving in the field of retinal diseases. We describe the state of the art of gene therapies now undergoing clinical trials both in the field of complement-suppressors and that of anti-VEGF.

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Section: Resultsmentioning

confidence: 99%

Genetic Aspects of Age-Related Macular Degeneration and Their Therapeutic Potential

Stradiotto

Allegrini

Fossati

et al. 2022

IJMS

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“…Another, sensitivity analysis is conducted to assess the stability of the results. Finally, the power and sample size analysis of our meta-analysis was calculated by a program called PS: Power and Sample Size Calculation (http://biostat.mc.vanderbilt.edu/wiki/Main/PowerSampleSize#Windows) [19].…”

Section: Discussionmentioning

confidence: 99%

Methylenetetrahydrofolate reductase gene rs1801133 polymorphism and essential hypertension risk from a comprehensive analysis

Fan

Wenfang

2021

Preprint

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Background Essential hypertension (EH) is common and multifactorial disorders likely to be influenced by multiple genes. The methylenetetrahydrofolate reductase (MTHFR) gene rs1801133 polymorphism is related to MTHFR enzyme activity and to plasma homocysteine concentration. In addition, variations in MTHFR functions likely play roles in the etiology of EH. So far, larger number of studies between MTHFR rs1801133 polymorphism and EH have provided controversial or inconclusive results. To better assess the purported relationship, we performed a comprehensive analysis of 50 publications. Methods Eligible studies were identified by searching the PubMed, Wanfang and CNKI databases. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess this association. Results Overall, increased significant associations were detected between MTHFR rs1801133 polymorphism and EH risk (such as T vs. C: OR = 1.37, 95%CI = 1.24–1.52, P = 0.000), the same as in race subgroup (Asian: T vs. C: OR = 1.46, 95%CI = 1.29–1.67, P = 0.000; China: T vs. C: OR = 1.51, 95%CI = 1.30–1.74, P = 0.000). Similar associations were also found in source of control and genotype methods subgroups. Conclusions Our study showed evidence that MTHFR rs1801133 null genotype may increase EH risk. Future studies with larger sample size are warranted to further evaluate this association in more detail.

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“…All statistical tests for this meta-analysis were performed using version 10.0 Stata software (StataCorp LP, College Station, TX, USA) [60]. The power and sample size analysis of our meta-analysis was calculated by a program called PS: Power and Sample Size Calculation(http://biostat.mc.vanderbilt.edu/wiki/Main/PowerSampleSize#Windows) [66].…”

Section: Discussionmentioning

confidence: 99%

High-temperature requirement factor A1 rs11200638 polymorphism and age-related macular degenerative from a comprehensive analysis about 15316 subjects

Liu¹,

Jin²,

Wei³

et al. 2020

Preprint

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Background: The high-temperature requirement factor A1 (HTRA1) gene at the 10q26 locus has been associated with age-related macular degenerative (AMD) risk, with the significantly associated polymorphism being (rs11200638, -625G/A), however, above association is not consistent. We investigated an updated meta-analysis to evaluate the association between rs11200638 polymorphism and AMD risk thoroughly addressing this issue. Methods: An identification was covered with the Pubmed and Chinese Wanfang databases through 27th Jan, 2020. Odds ratios (OR) and 95% confidence intervals (CI) were used to assess the strength of associations. After a thorough and meticulous search, 35 different articles (33 case-control studies with HWE, 22 case-control studies about wet/dry AMD) were retrieved. Results: Individuals carrying A-allele or AA genotype may have an increased risk to be AMD disease. For example, there has a significantly increased relationship between rs11200638 polymorphism and AMD both for Asians (OR: 2.51, 95%CI: 2.22-2.83 for A-allele vs. G-allele) and Caucasians (OR: 2.63, 95%CI: 2.29-3.02 for A-allele vs. G-allele). Moreover, a similar trend in the source of control subgroup was detected. To classify the type of AMD, increased association was also observed in both wet (OR: 3.40, 95%CI: 2.90-3.99 for dominant model) and dry (OR: 2.08, 95%CI: 1.24-3.48 for dominant model) AMD. Finally, based on the different genotyping methods, increased relationships were identified by sequencing, TaqMan, PCR-RFLP and RT-PCR. Conclusions: Our present meta-analysis suggests that the HTRA1 rs11200638 polymorphism are potentially associated with the risk of AMD development, especially about individuals carrying A-allele or AA genotype, who may be as identified targets to detect and intervene in advance. Further studies using larger sample sizes and including information about gene-environment interactions should be conducted to elucidate.

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Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis

Cited by 11 publications

References 83 publications

Genetic Aspects of Age-Related Macular Degeneration and Their Therapeutic Potential

Genetic Aspects of Age-Related Macular Degeneration and Their Therapeutic Potential

Methylenetetrahydrofolate reductase gene rs1801133 polymorphism and essential hypertension risk from a comprehensive analysis

High-temperature requirement factor A1 rs11200638 polymorphism and age-related macular degenerative from a comprehensive analysis about 15316 subjects

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