Influence of VEGF-C936T genetic variant on age-related macular degeneration

Gonçalves, Fernanda Tanaka Iasbeck; Cezario, Sabrina Mayara; Calastri, Maria Clara Jessica; Oliveira, Camila Ive Ferreira; Souza, Dorotéia Rossi Silva; Pinhel, Marcela Augusta de Souza; Cotrim, Carina Costa; Jorge, Rodrigo; Siqueira, Rubens Camargo

doi:10.5935/0004-2749.20150077

Cited by 7 publications

(6 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Four studies detected significantly upregulated levels of VEGF in serum or plasma, 6,115,205,338 but these findings are contrasted with 10 other studies that reported no association. 41,80,112,122,125,211,231,299,353,380 VEGF signaling is mediated through a complex of receptors and coreceptors, of which the soluble form of VEGF receptor 1 has been investigated in a number of studies. As in the case of VEGF, these studies do not offer a clear direction of effect.…”

Section: Vascular Endothelial Growth Factor and Soluble Vegf Receptormentioning

confidence: 99%

Systemic and ocular fluid compounds as potential biomarkers in age-related macular degeneration

Kersten

Paun

Schellevis

et al. 2018

Survey of Ophthalmology

102

122

View full text Add to dashboard Cite

Biomarkers can help unravel mechanisms of disease and identify new targets for therapy. They can also be useful in clinical practice for monitoring disease progression, evaluation of treatment efficacy, and risk assessment in multifactorial diseases, such as age-related macular degeneration (AMD). AMD is a highly prevalent progressive retinal disorder for which multiple genetic and environmental risk factors have been described, but the exact etiology is not yet fully understood. Many compounds have been evaluated for their association with AMD. We performed an extensive literature review of all compounds measured in serum, plasma, vitreous, aqueous humor, and urine of AMD patients. Over 3600 articles were screened, resulting in more than 100 different compounds analyzed in AMD studies, involved in neovascularization, immunity, lipid metabolism, extracellular matrix, oxidative stress, diet, hormones, and comorbidities (such as kidney disease). For each compound, we provide a short description of its function and discuss the results of the studies in relation to its usefulness as AMD biomarker. In addition, biomarkers identified by hypothesis-free techniques, including metabolomics, proteomics, and epigenomics, are covered. In summary, compounds belonging to the oxidative stress pathway, the complement system, and lipid metabolism are the most promising biomarker candidates for AMD. We hope that this comprehensive survey of the literature on systemic and ocular fluid compounds as potential biomarkers in AMD will provide a stepping stone for future research and possible implementation in clinical practice.

show abstract

Section: Vascular Endothelial Growth Factor and Soluble Vegf Receptormentioning

confidence: 99%

Systemic and ocular fluid compounds as potential biomarkers in age-related macular degeneration

Kersten

Paun

Schellevis

et al. 2018

Survey of Ophthalmology

102

122

View full text Add to dashboard Cite

show abstract

“…Each tissue expresses different proportions of the VEGF isoforms depending on their specifics needs. The VEGF 165 isoform is the one most frequently observed in the human eye [23][24][25] . Its role in choroidal neovascularization has been clearly showed 9 .…”

Section: Discussionmentioning

confidence: 99%

Functional polymorphisms in the VEGF gene are not associated with age-related macular degeneration in a Mexican population

Rosales-Díaz¹,

Santos²,

Navarro-Partida³

et al. 2020

RMOE

View full text Add to dashboard Cite

introduction:The wet form of age-related macular degeneration (WAMD) is related to the expression of vascular endothelial growth factor (VEGF). Several single nucleotide polymorphisms (SNPs) in the VEGF gene are associated with different expression patterns of this cytokine (functional polymorphisms). In this study, we considered 4 SNPs that are located in the promoter region (rs699947 A/C, rs833061 C/T, rs1005230 C/T and rs1570360 A/G) and two in the 5' untranslated region (rs2010963 C/G and rs25648 C/T) that have an effect on transcriptional regulation. Objective: To associate functional SNPs with WAMD in a Mexican population. Methods: Through allelic discrimination assays, consisting in polymerase chain reactions (PCR) with Taqman® probes, the polymorphisms were genotyped. Genotype frequencies were compared using all inheritance models. results: SNPs were genotyped in 105 patients diagnosed with WAMD (61 women and 44 men, mean age 74.28 ± 8.32 years), and in 102 healthy control subjects (61 women and 41 men, mean age 67.41 ± 5.78 years). Genotypes in both groups were in Hardy-Weinberg equilibrium. In all SNPs analyzed, the minor allele frequency was statistically significant different between the groups. Genotypes were not statistically significant different between the WAMD and the control groups (p > 0.05). conclusion: No association was observed between the studied SNPs and the presence of WAMD in the analyzed Mexican population. We consider that further analysis in larger samples is necessary to confirm these findings.

show abstract

“…Cada tejido expresa diferentes proporciones de las isoformas de VEGF dependiendo de sus necesidades específicas. La isoforma VEGF-165 es la que se ha observado con más frecuencia en el ojo humano [23][24][25] .…”

Section: Discussionunclassified

Polimorfismos funcionales del gen VEGF no están asociados con degeneración macular relacionada con la edad en población mexicana

Rosales-Díaz¹,

Santos²,

Navarro-Partida³

et al. 2020

Revista Mexicana De Oftalmología

View full text Add to dashboard Cite

La degeneración macular relacionada con la edad (DMRE) exudativa está asociada con la expresión del factor de crecimiento vascular endotelial (VEGF). Varios polimorfismos de un solo nucleótido (SNP) en el gen VEGF están asociados con diferentes patrones de expresión de esta citocina (polimorfismos funcionales). En este estudio consideramos 4 SNP que están ubicados en la región promotora (rs699947 A/C, rs833061 C/T, rs1005230 C/T y rs1570360 A/G) y dos en la región 5' no traducida (rs2010963 C/G y rs25648 C/T) que tienen efecto sobre la regulación de la transcripción. Objetivo: Asociar SNP funcionales con la DMRE exudativa en población mexicana. Métodos: A través de reacción en cadena de la polimerasa con ensayos de discriminación alélica con sondas Taqman  , los polimorfismos fueron genotipados. Las frecuencias genotípicas se compararon utilizando todos los modelos de herencia. Resultados: Los SNP fueron genotipados en 105 pacientes diagnosticados con DMRE exudativa (61 mujeres y 44 hombres, edad promedio 74.28 ± 8.32 años) y en 102 sujetos control sanos (61 mujeres y 41 hombres, edad promedio 67.41 ± 5.78 años). Los genotipos en ambos grupos estaban en el equilibrio de Hardy-Weinberg. En cualquiera de los SNP analizados, la frecuencia de alelos menores fue diferente entre los grupos, con significación estadística. Los genotipos no mostraron diferencias estadísticamente significativas entre la DMRE exudativa y los grupos control (p > 0.05). Conclusión: No se encontró asociación entre los SNP estudiados y la presencia de DMRE exudativa en la población mexicana analizada. Consideramos necesario un análisis adicional en muestras más grandes para confirmar estos hallazgos.

show abstract

Influence of VEGF-C936T genetic variant on age-related macular degeneration

Cited by 7 publications

References 21 publications

Systemic and ocular fluid compounds as potential biomarkers in age-related macular degeneration

Systemic and ocular fluid compounds as potential biomarkers in age-related macular degeneration

Functional polymorphisms in the VEGF gene are not associated with age-related macular degeneration in a Mexican population

Polimorfismos funcionales del gen VEGF no están asociados con degeneración macular relacionada con la edad en población mexicana

Contact Info

Product

Resources

About