Genetic variation and plasma level of the basic fibroblast growth factor in proliferative diabetic retinopathy

Beránek, Michal; Kolář, Petr; Tschöplová, Svatava; Kaňková, Kateřina; Vašků, Anna

doi:10.1016/j.diabres.2007.09.012

Cited by 19 publications

(14 citation statements)

References 23 publications

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“…FGF2 754C/G may be a functional SNP even though it lies in intron 1. Beranek et al (2008) reported that there was a trend for different genotype frequencies of the 754C/G polymorphism between PDR and non-diabetic groups (P ¼ 0.05), but the plasma level of FGF2 protein in GG homozygotes (median plasma level of FGF2 is 33.1 pg/ml) was significantly lower than that in carriers of the C allele (69.4 pg/ml) in the PDR patients. Furthermore, they presumed that the FGF2 754C/G polymorphism may cause a structural change in the FGF2 mRNA, which could play a role in post-transcriptional modifications.…”

Section: Discussionmentioning

confidence: 99%

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Association between genetic polymorphisms in fibroblast growth factor (FGF)1 and FGF2 and risk of endometriosis and adenomyosis in Chinese women

Kang

Wang

et al. 2010

Human Reproduction

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background: Angiogenesis appears to be an important event in the pathophysiology of endometriosis (EM) and adenomyosis. Two angiogenic factors, fibroblast growth factor (FGF) 1 and 2, play a central role in the initiation of angiogenesis. We investigated whether FGF1 -1385A/G and FGF2 754C/G polymorphisms are associated with a risk of developing EM and adenomyosis.methods: Genotypes were analyzed by the PCR-restriction fragment length polymorphism method in two groups of women, of Han ethnicity in north China, aged 16 -55 years: (1) 421 EM patients and 421 controls; (2) 269 adenomyosis patients and 269 controls.results: There was no difference in genotype distribution of the FGF1 -1385A/G polymorphism between adenomyosis cases and controls (P . 0.05), but the frequency of the A allele in EM patients was lower than that in controls (P ¼ 0.013). Genotype and allele frequencies of the FGF2 754C/C polymorphism were significantly different in both EM and adenomyosis cases versus control groups. Compared with C/C homozygotes, the G allele (C/G + G/G) was associated with a decreased susceptibility to developing EM [odds ratio (OR) ¼ 0.575, 95% confidence interval (CI) ¼ 0.387-0.854] and adenomyosis (OR ¼ 0.577, 95% CI ¼ 0.367-0.906). Combined genotype analysis of both polymorphisms also showed differences between cases versus controls (all P , 0.001).conclusions: Our study shows for the first time that the FGF2 754C/G polymorphism may be associated with a risk of developing EM and adenomyosis in north Chinese women. Carriers of the G allele in the FGF2 gene appear to be protected from these gynecological diseases. Further studies in other populations, and of other candidate genes, are now warranted.

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Section: Discussionmentioning

confidence: 99%

“…These two SNPs may alter the protein expression level of FGF1 and FGF2, and are associated with developing Alzheimer's disease and proliferative diabetic retinopathy (PDR) (Yamagata et al, 2004;Beranek et al, 2008). We hypothesized that the polymorphisms in FGF1 and FGF2 might confer susceptibility to the development of EM and adenomyosis.…”

Section: Introductionmentioning

confidence: 99%

Association between genetic polymorphisms in fibroblast growth factor (FGF)1 and FGF2 and risk of endometriosis and adenomyosis in Chinese women

Kang

Wang

et al. 2010

Human Reproduction

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“…To date, there have been two studies examining a total of 6 polymorphisms in FGF2, both studies examined PDR in Caucasian cohorts (Beranek et al. ; Petrovic et al. 2008c) and a meta‐analysis using the data from these studies (Abhary et al.…”

Section: Chronic Hyperglycaemiamentioning

confidence: 99%

“…Beranek et al. () examined the same three SNPs as well as an addition three polymorphisms (rs1449683, rs373341357 and rs111250029). They did not find an association with rs308398 but did identify an association with SNP rs373341357.…”

Section: Chronic Hyperglycaemiamentioning

confidence: 99%

Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy

Broadgate

Kiire

Halford

et al. 2018

Acta Ophthalmologica

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Diabetic retinopathy, a complication of both type 1 and type 2 diabetes, is a complex disease and is one of the leading causes of blindness in adults worldwide. It can be divided into distinct subclasses, one of which is diabetic macular oedema. Diabetic macular oedema can occur at any time in diabetic retinopathy and is the most common cause of vision loss in patients with type 2 diabetes. The purpose of this review is to summarize the large number of genetic association studies that have been performed in cohorts of patients with type 2 diabetes and published in English-language journals up to February 2017. Many of these studies have produced positive associations with gene polymorphisms and diabetic retinopathy. However, this review highlights that within this large body of work, studies specifically addressing a genetic association with diabetic macular oedema, although present, are vastly under-represented. We also highlight that many of the studies have small patient numbers and that meta-analyses often inappropriately combine patient data sets. We conclude that there will continue to be conflicting results and no meaningful findings will be achieved if the historical approach of combining all diabetic retinopathy disease states within patient cohorts continues in future studies. This review also identifies several genes that would be interesting to analyse in large, well-defined cohorts of patients with diabetic macular oedema in future candidate gene association studies.

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“…For example, vascular endothelial growth factor (VEGF) was found to be overexpressed in fibrovascular membranes (FVMs) in patients with PDR, suggesting that it may contribute to the development of PDR ( 6 ). Gene polymorphisms of other growth factors, including basic fibroblast growth factor and insulin-like growth factor have also been shown to be important in the pathogenesis of PDR ( 7 , 8 ). The association between single-nucleotide polymorphisms of oxidative stress genes and PDR in type 2 diabetes has been reported in a number of previous studies, including manganese superoxide dismutase, catalase myeloperoxidase, glutathione S-transferase, NADPH oxidase, endothelial nitric oxide synthase and inducible nitric oxide synthase ( 9 – 11 ).…”

Section: Introductionmentioning

confidence: 99%

Comprehensive analysis of gene expression profiles associated with proliferative diabetic retinopathy

Gong

Zhang

et al. 2018

Exp Ther Med

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Proliferative diabetic retinopathy (PDR) is characterized by neovascularization on the surface of the retina or the optic disc, which is associated with environmental and genetic factors. However, its regulatory mechanism remains to be fully elucidated, particularly at a multiomics level. In the present study, a comprehensive analysis was performed of the gene expression profile of fibrovascular membranes (FVMs) associated with PDR, including an analysis of differentially expressed genes, functional enrichment, and regulation of transcription factors (TFs). As a result, novel marker genes of PDR were identified, including flavin containing monooxygenase 2. Furthermore, several common or specific genes, pathways and TFs have been recovered for active and inactive FVMs. In the present study, lymphoid enhancer binding factor 1 (LEF1) was identified as an upregulator in active and inactive FVMs, which is capable of activating or repressing target genes, including claudin 2, secreted phosphoprotein 1 (SPP1), and aristaless-like homeobox 4. It was demonstrated that the Wnt/β-catenin effector LEF1 regulating SPP1 is potentially important in PDR. The results of the present study may provide novel insights into the molecular mechanisms underlying the pathophysiology of PDR.

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Genetic variation and plasma level of the basic fibroblast growth factor in proliferative diabetic retinopathy

Cited by 19 publications

References 23 publications

Association between genetic polymorphisms in fibroblast growth factor (FGF)1 and FGF2 and risk of endometriosis and adenomyosis in Chinese women

Association between genetic polymorphisms in fibroblast growth factor (FGF)1 and FGF2 and risk of endometriosis and adenomyosis in Chinese women

Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy

Comprehensive analysis of gene expression profiles associated with proliferative diabetic retinopathy

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