Pharmacogenetic Effect of Complement Factor H Gene Polymorphism in Response to the Initial Intravitreal Injection of Bevacizumab for Wet Age-Related Macular Degeneration

Medina, Flávio Mac Cord; Motta, Augusto; Takahashi, Walter Yukihiko; Carricondo, Pedro Carlos; Motta, Mário Martins dos Santos; Melo, Mônica Barbosa de; Vasconcellos, José Paulo Cabral de

doi:10.1159/000439172

Cited by 15 publications

(11 citation statements)

References 22 publications

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“…The alleles in CFH, ARMS2, and VEGFA were associated with genetic anticipation and inadequate response to the anti-VEGF agents in AMD patients [35]. The relationship between the delayed functional and limited response to the injection of bevacizumab and the CFH gene polymorphism T1277C was also identified [36]. In our study, no associations were found between the SNPs of VEGF family genes and the morbidity of AMD.…”

Section: Discussionmentioning

confidence: 49%

Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group

Liu

Zhang

et al. 2019

BMC Med Genet

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BackgroundAge-related macular degeneration (AMD) can cause vision loss or blindness in elderly. The associations between single nucleotide polymorphism (SNP) and AMD in Chinese Tujia ethnic minority group are still unclear.MethodsA total of 2122 Tujia volunteers were recruited and 197 of them were diagnosed with AMD (either dry or wet type).Then the blood specimens of these 197 AMD patients and 404 controls from the remaining 1925 normal Tujia volunteers were collected to detect the frequencies of 39 chosen SNPs. The Bonferroni method was used to correct the P values from the Fisher’s exact test.ResultsThe mean age of the 197 AMD patients(113 males and 84 females) was 68.4197 years old. No significant differences in allelic and genotypic frequencies were found for all the 39 SNPs between the patients and controls. However, weak correlations between 10 SNPs (CFH rs1329428 TT genotype, CFH rs3753394 CC genotype and T allele, CFH rs1410996 AA genotype, CFH rs800292 AA genotype, CFH rs800292 A allele, VEGF rs833061 TT genotype and C allele, VEGF rs2010963 CG genotype, VEGFR2 rs1531289 TT genotype, ARMS2 rs10490924 TT genotype, KCTD10 rs238104 GC genotype, rs1531289 T allele and ARMS2 rs10490924 T allele) and AMD were shown.ConclusionsThe effects of 39 SNPs have found no associations with the morbidity of AMD in Chinese Tujia ethnic minority group.Electronic supplementary materialThe online version of this article (10.1186/s12881-019-0756-4) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 49%

Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group

Liu

Zhang

et al. 2019

BMC Med Genet

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“…Smailhodzic et al 36 demonstrated a cumulative effect of high-risk alleles in CFH, ARMS2 , and VEGFA that were associated with a younger age of onset and inadequate response to intravitreal anti-vascular endothelial growth factor (anti-VEGF) agents in individuals with AMD. Medina et al 37 also found that in individuals with a homozygous CC group, variants of the CFH gene polymorphism T1277C were associated with delayed functional and limited morphological response to the initial intravitreal injection of Avastin (bevacizumab) in wet AMD. Therefore, further pharmacogenomic studies may aid in developing a rational guide to treatment regimens and to optimize treatment response tailored to an individual’s genetic background.…”

Section: Risk Factorsmentioning

confidence: 99%

Recent developments in age-related macular degeneration: a review

Al-Zamil¹,

Yassin²

2017

CIA

330

251

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Background: Visual impairment in elderly people is a considerable health problem that significantly affects quality of life of millions worldwide. The magnitude of this issue is becoming more evident with an aging population and an increasing number of older individuals. Objective: The objective of this article was to review the clinical and pathological aspects of age-related macular degeneration (AMD), diagnostic tools, and therapeutic modalities presently available or underway for both atrophic and wet forms of the disease. Methods: An online review of the PubMed database was performed, searching for the key words. The search was limited to articles published since 1980 to date. Results: Several risk factors have been linked to AMD, such as age (.60 years), lifestyle (smoking and diet), and family history. Although the pathogenesis of AMD remains unclear, genetic factors have been implicated in the condition. Treatment for atrophic AMD is mainly close observation, coupled with nutritional supplements such as zinc and antioxidants, whereas treatment of wet AMD is based on targeting choroidal neovascular membranes. Conclusion: Identification of modifiable risk factors would improve the possibilities of preventing the progression of AMD. The role of anti-vascular endothelial growth factor (anti-VEGF) agents has transformed the therapeutic approach of the potentially blinding disease "wet AMD" into a more favorable outcome.

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“…In the CFH gene, the CFH Y402H SNP was significantly related to higher doses of bevacizumab in AMD patients (p = 0.02) [25]. The TT genotype for this SNP was associated with a greater improvement in mean visual acuity (p = 0.009) in macular degeneration treated with ranibizumab [25], while the CC genotype was associated with a decreased response if treated with bevacizumab [26]. Furthermore, the CFH Y402H TT genotype was related to a decreased response to PDT in AMD patients (p = 0.04) [27].…”

Section: Introductionmentioning

confidence: 99%

Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis

Díaz-Villamarín

Blánquez-Martínez²,

Pozo-Agundo

et al. 2020

Genes

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Polypoidal choroidal vasculopathy (PCV) is usually regarded as a subtype of choroidal neovascularization (CNV) that is secondary to age-related macular degeneration (AMD) characterized by choroidal vessel branching, ending in polypoidal lesions. Despite their close association, PCV and neovascular AMD have shown differences, especially regarding patients’ treatment response. Currently, antivascular endothelial growth factor (anti-VEGF) drugs, such as ranibizumab, bevacizumab and aflibercept, have demonstrated their efficacy in CNV patients. However, in PCV, anti-VEGF treatments have shown inconclusive results. Many genetic polymorphisms have been associated with a variable response in exudative/wet AMD patients. Thus, the aim of this study is to explore the genetic variants affecting anti-VEGF drug response in PCV patients. In this regard, we performed a systematic review and meta-analysis. We found four variants (CFH I62V, CFH Y402H, ARMS2 A69S, and HTRA1-62A/G) that have been significantly related to response. Among them, the ARMS2 A69S variant is assessed in our meta-analysis. In conclusion, in order to implement anti-VEGF pharmacogenetics in clinical routines, further studies should be performed, distinguishing physio-pathogenic circumstances between PCV and exudative AMD and the combined effect on treatment response of different genetic variants.

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Pharmacogenetic Effect of Complement Factor H Gene Polymorphism in Response to the Initial Intravitreal Injection of Bevacizumab for Wet Age-Related Macular Degeneration

Cited by 15 publications

References 22 publications

Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group

Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group

Recent developments in age-related macular degeneration: a review

Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis

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