The rs2071559 AA VEGFR-2 Genotype Frequency Is Significantly Lower in Neovascular Age-Related Macular Degeneration Patients

In this prospective, case-control genetic study, 120 consecutive neovascular age-related macular degeneration (AMD) cases and 78 controls were enrolled. Two SNPs (rs2071559 and rs1870377) of VEGF-A receptor-2 (VEGFR-2) gene were analyzed with the technique of Real-Time PCR to investigate a genetic link between AMD and VEGFR-2 gene polymorphisms in Italian patients. The frequency of the VEGFR-2 genotype rs2071559 AA was significantly lower (18.33%) in patients with AMD than in the control subjects (34.62%; P = 0.0095, chi-square test; P corr = 0.038; OR = 0.42, 95% CI 0.22 to 0.82). In conclusion, although with the limitations of a small sample size and the few SNPs studied, this study demonstrates a lower frequency of VEGFR-2 rs2071559 AA genotype in an AMD patient population, suggesting future studies on the role VEGFR-2 SNPs.

• Publication year

  2012

• Venue

  TheScientificWorldJournal

• Publication date

  2012-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1100/2012/420190PMID 22919317PMCID 3415178
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Pharmacogenetics of antiangiogenic and antineovascular therapies of age-related macular degeneration.

  2012cited by this paper
• VEGF gene haplotypes are associated with sarcoidosis.

  2010cited by this paper
• Microvessel density and the association with single nucleotide polymorphisms of the vascular endothelial growth factor receptor 2 in patients with colorectal cancer

  2010cited by this paper
• G/R 241 polymorphism of intercellular adhesion molecule 1 (ICAM-1) is associated with Fuchs uveitis.

  2010cited by this paper
• Investigative Ophthalmology and Visual Science

  2010cited by this paper
• Vascular Endothelial Growth Factor

  2009cited by this paper
• Polymorphisms in the VEGFA and VEGFR-2 genes and neovascular age-related macular degeneration

  2009influential reference
• Association of polymorphisms of angiogenesis genes with breast cancer

  2008cited by this paper
• Vascular endothelial growth factor in eye disease.

  2008cited by this paper
• Association of polymorphisms of angiogenesis genes with breast cancer

  2008cited by this paper
• Vascular endothelial growth factor gene polymorphisms in age-related macular degeneration.

  2008influential reference
• Polymorphisms in the vascular endothelial growth factor gene and risk of age-related macular degeneration: the Rotterdam Study.

  2008cited by this paper
• The role of vascular endothelial growth factor and other endogenous interplayers in age-related macular degeneration.

  2008cited by this paper
• Vascular endothelial growth factor pharmacogenetics: a new perspective for anti-angiogenic therapy.

  2007cited by this paper
• A tag-single nucleotide polymorphisms approach to the vascular endothelial growth factor-A gene in age-related macular degeneration.

  2007cited by this paper
• Estrogen receptor alpha gene polymorphisms associated with incident aging macula disorder.

  2007cited by this paper
• C-reactive protein level and risk of aging macula disorder: The Rotterdam Study.

  2007cited by this paper
• Polymorphisms of KDRGene Are Associated With Coronary Heart Disease

  2007cited by this paper
• Polymorphisms of KDR gene are associated with coronary heart disease.

  2007cited by this paper
• VEGF polymorphisms are associated with neovascular age-related macular degeneration.

  2006cited by this paper
• Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration.

  2006cited by this paper
• Genetic testing for age-related macular degeneration.

  2006cited by this paper
• Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.

  2006cited by this paper
• CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration.

  2006cited by this paper
• Prevalence of age-related maculopathy in older Europeans: the European Eye Study (EUREYE).

  2006cited by this paper
• Prevalence of age-related macular degeneration in the United States.

  2004cited by this paper
• The risk and natural course of age-related maculopathy: follow-up at 6 1/2 years in the Rotterdam study.

  2003cited by this paper
• Towards an understanding of age-related macular disease

  2003cited by this paper
• Errors and Linkage Disequilibrium Interact Multiplicatively When Computing Sample Sizes for Genetic Case-Control Association Studies

  2002cited by this paper
• Power and Sample Size Calculations for Case-Control Genetic Association Tests when Errors Are Present: Application to Single Nucleotide Polymorphisms

  2002cited by this paper
• Detection and integration of genotyping errors in statistical genetics.

  2002cited by this paper
• A transmission/disequilibrium test that allows for genotyping errors in the analysis of single-nucleotide polymorphism data.

  2001cited by this paper
• Vascular endothelial growth factor

  1997cited by this paper
• An international classification and grading system for age-related maculopathy and age-related macular degeneration

  1995cited by this paper
• An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group.

  1995cited by this paper

• Association of KDR (rs2071559, rs1870377), CFH (rs1061170, rs1410996) genes variants and serum levels with pituitary adenoma

  2023cites this paper
• Recent Developments in Gene Therapy for Neovascular Age-Related Macular Degeneration: A Review

  2023cites this paper
• Neovascular Age-Related Macular Degeneration: Therapeutic Management and New-Upcoming Approaches

  2020cites this paper
• The role of hypoxia-inducible factors in neovascular age-related macular degeneration: a gene therapy perspective

  2019cites this paper
• Enhancements in Alginate Microencapsulation Technology & Impacts on Cell Therapy Development

  2018cites this paper
• Encapsulated Cell Technology-Based Delivery of a Complement Inhibitor Reduces Choroidal Neovascularization in a Mouse Model

  2018cites this paper
• Investigation of angiogenesis genes with anterior cruciate ligament rupture risk in a South African population

  2018cites this paper
• Association between VEGF-A and VEGFR-2 polymorphisms and response to treatment of neovascular AMD with anti-VEGF agents: a meta-analysis

  2016cites this paper
• IL-8 and VEGFR-2 polymorphisms modulate long-term functional response to intravitreal ranibizumab in exudative age-related macular degeneration.

  2016cites this paper
• Fenofibrate inhibits the expression of VEGFC and VEGFR-3 in retinal pigmental epithelial cells exposed to hypoxia

  2015cites this paper
• Correlation between VEGFR2 rs2071559 polymorphism and glioma risk among Chinese population.

  2015cites this paper
• Understanding the Alternative Splicing-regulated Transcriptomic Changes During Mouse Retinal Development and Disease Through Global and Gene-centric Approaches

  2015influential citation
• Predictive value of VEGF A and VEGFR2 polymorphisms in the response to intravitreal ranibizumab treatment for wet AMD

  2014cites this paper
• VEGFA and VEGFR2 gene polymorphisms and response to anti-vascular endothelial growth factor therapy: comparison of age-related macular degeneration treatments trials (CATT).

  2014cites this paper
• Association and Interaction Effect between VEGF Receptor-2 (VEGFR-2) Gene Polymorphisms and Dietary Pattern on Blood Lipids in Malaysian Adults

  2014cites this paper
• Expression Analysis of an Evolutionarily Conserved Alternative Splicing Factor, Sfrs10, in Age-Related Macular Degeneration

  2013cites this paper
• VEGF-A and VEGFR-2 Gene Polymorphisms and Response to Anti-VEGF Therapy in the Comparison of AMD Treatments Trials (CATT)

  2013cites this paper