Association between vascular endothelial growth factor gene polymorphisms and age-related macular degeneration in a Polish population

Janik-Papis, Katarzyna; Zaras, Malgorzata; Krzyzanowska, Anna; Woźniak, Katarzyna; Błasiak, Janusz; Szaflik, Jerzy; Szaflik, Jacek P.

doi:10.1016/j.yexmp.2009.09.005

Cited by 38 publications

(35 citation statements)

References 12 publications

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“…All retrieved articles were examined by reading titles, abstracts, and full texts to check the eligibility for this meta-analysis. After careful screening, nine case-control studies (Churchill et al, 2006;Richardson et al, 2007;Lin et al, 2008;Janik-Papis et al, 2009;Szaflik et al, 2009;Galan et al, 2010;Qu et al, 2011;Almeida et al, 2012;Jiang et al, 2013) with 2427 cases and 2037 controls were finally included in the meta-analysis (Fig. 1).…”

Section: Characteristics Of Studiesmentioning

confidence: 99%

Roles of Three Common VEGF Polymorphisms in the Risk of Age-Related Macular Degeneration

Liu

Hou

Lang

et al. 2014

Genetic Testing and Molecular Biomarkers

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Associations between vascular endothelial growth factor (VEGF) polymorphisms (rs833061, rs1413711, and rs3025039) and risk of age-related macular degeneration (AMD) have been extensively studied, but the currently available results are contentious rather than conclusive. Therefore, we performed the present metaanalysis to further assess the associations. Literature search in PubMed, Embase, and Web of Science databases was conducted until April 2013. The strength of the associations between VEGF polymorphisms and AMD risk was estimated by pooled odds ratios (ORs) and 95% confidence intervals (CIs). Both models of fixed effects and random effects were performed to summarize the pooled ORs. All data were analyzed by Stata software 12.0. The meta-analysis results based on nine case-control studies with 2427 cases and 2037 controls showed that rs833061 had protective effects on AMD risk (TT vs. CT + CC: OR = 0.58, 95% CI = 0.41-0.81), whereas rs1413711 (TT vs. CT + CC: OR = 1.46, 95% CI = 1.10-1.93) and rs3025039 (TT vs. CC: OR = 1.87, 95% CI = 1.15-3.02; TT vs. CT + CC: OR = 2.09, 95% CI = 1.30-3.37) represented as risk factors for AMD. Subgroup analysis by ethnicity suggested significantly reduced risk in Caucasians (TT vs. CT + CC: OR = 0.60, 95% CI = 0.36-0.99; T vs. C: OR = 0.89, 95% CI = 0.78-1.00) and Asians (TT + CT vs. CC: OR = 0.57, 95% CI = 0.34-0.96; TT vs. CT + CC: OR = 0.54, 95% CI = 0.33-0.90) for rs833061, yet elevated risk in Caucasians (TT vs. CT + CC: OR = 2.05, 95% CI = 1.24-3.38) for rs1413711 and in Asians (TT vs. CC: OR = 2.06, 95% CI = 1.24-3.43; TT vs. CC: OR = 2.34, 95% CI = 1.42-3.89) for rs3025039. In stratified analysis by type of AMD, rs833061 was observed to decrease wet AMD risk, while rs1413711 and rs3025039 were found to increase the risk of wet AMD. Based on the currently available data, this meta-analysis suggests that the VEGF polymorphisms may be associated with risk of AMD, particularly wet AMD.

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Section: Characteristics Of Studiesmentioning

confidence: 99%

Roles of Three Common VEGF Polymorphisms in the Risk of Age-Related Macular Degeneration

Liu

Hou

Lang

et al. 2014

Genetic Testing and Molecular Biomarkers

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“…Previous studies reported that -460T/C (rs833061), which is located in the promoter region of the gene, and +634G/C (rs2010963), which is in the 5 -untranslated region of the gene, 3 intronic SNPs (rs833070, rs3025030 and rs1413711), were found to be associated with the risk of AMD in different Caucasian AMD populations [14][15][16] . The +936C/T (rs3025039) in the 3 -untranslated region of the VEGF gene was shown significantly increased in wet AMD in a Taiwan Chinese cohort [17] .…”

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confidence: 99%

Vascular Endothelial Growth Factor Gene Polymorphisms and Risk of Neovascular Age-Related Macular Degeneration in a Chinese Cohort

Dai²,

Zhou³

et al. 2010

Ophthalmic Res

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Aims: To evaluate the association between vascular endothelial growth factor (VEGF) gene polymorphism and the risk of neovascular age-related macular degeneration (AMD) in a case-control study in a Chinese cohort. Methods: We genotyped 4 common single-nucleotide polymorphisms (SNPs), namely –460T/C (rs833061), +405C/G (rs2010963), +674C/T (rs1413711) and +936C/T (rs3025039), simultaneously detected 7 tag SNPs (tSNPs) in the VEGF gene, in 159 neovascular AMD patients and 140 age- and sex-matched control subjects. Genetic analyses for an additive, dominant and recessive model were performed on all available genotype data. All the possible haplotypes of these 11 SNPs were detected. Results: No evident association was found in the allele frequencies of any individual SNP between patients and controls; the combined p values in each genotype group were greater than 0.05. Haplotype analyses of these SNPs did not provide any evidence for an association with the risk of neovascular AMD in this Chinese cohort (p > 0.05). Conclusions: Detection of 4 common SNPs and 7 tSNPs in the VEGF gene did not find any statistically significant association with neovascular AMD in the Chinese cohort. Further studies of comprehensive VEGF gene variations are required to characterize the susceptibility of the VEGF gene in the pathogenesis of AMD.

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“…Churchill et al 44 first reported a SNP rs1413711 in VEGFA to associate with AMD in a Caucasian cohort. Later, some studies had found VEGFA as a risk factor for AMD, 23,45,46 whereas some others did not. [47][48][49] In a GWAS, the VEGFA SNP rs943080 was significantly associated with AMD in European populations (P ¼ 9 3 10 À16 , OR ¼ 0.87 for the minor allele C).…”

Section: Discussionmentioning

confidence: 99%

Identification ofPGFas a New Gene for Neovascular Age-Related Macular Degeneration in a Chinese Population

Chen

Chu

et al. 2016

Invest. Ophthalmol. Vis. Sci.

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PURPOSE.To determine the associations of the VEGFA, VEGFB, and placental growth factor (PGF) genes with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV).METHODS. Seven single-nucleotide polymorphisms (SNPs) in VEGFA, three SNPs in VEGFB, and five SNPs in PGF were genotyped in 1722 unrelated Chinese participants, including a Hong Kong cohort of 214 nAMD patients, 236 PCV patients, and 365 controls, and an independent Shantou cohort of 189 nAMD patients, 187 PCV patients, and 531 controls, using TaqMan genotyping assays.RESULTS. Placental growth factor SNPs rs2268615 (G allele, P ¼ 0.0047; odds ratio [OR] ¼ 1.54, 95% confidence interval [CI], 1.14-2.08) and rs2268614 (G allele, P ¼ 0.015; OR ¼ 1.46, 95% CI, 1.07-1.97) were associated with nAMD. A significant omnibus haplotype association with nAMD was detected for a two-SNP window containing rs2268615 and rs2268614, with a haplotype G-G conferring a 1.54-fold increased risk (P ¼ 0.0042) in the Hong Kong cohort and a 1.42-fold risk (P ¼ 0.012) in the Shantou cohort. Pooling of the Hong Kong and Shantou data enhanced the association of nAMD with rs2268615 (P ¼ 0.0022; OR ¼ 1.38, 95% CI, 1.12-1.69; I 2 ¼ 0%), rs2268614 (P ¼ 0.0067; OR ¼ 1.33, 95% CI, 1.08-1.63; I 2 ¼ 0%), and the G-G haplotype (P ¼ 0.0013; OR ¼ 1.46, 95% CI, 1.16-1.84; I 2 ¼ 0%). In contrast, the PGF SNPs and haplotype were not associated with PCV. Our results also revealed no association of SNPs in VEGFA and VEGFB with nAMD or PCV.CONCLUSION. Placental growth factor is a susceptibility gene for nAMD in a Chinese population, providing new evidence to support a biological role of PGF in choroidal neovascularization.Keywords: PGF, AMD, genetic association A ge-related macular degeneration (AMD) is a leading cause of irreversible central visual impairment among elderly individuals in developed countries. Age-related macular degeneration is characterized by degenerative features at the macula affecting the photoreceptors and retinal pigment epithelium (RPE), often presenting with macular drusen in the early stage. Advanced AMD can be classified into geographic atrophy (dry AMD) and neovascular AMD (nAMD; or wet AMD). Prevalence of advanced AMD has been estimated to be 0.59% in Caucasian populations and 0.56% in Asian populations aged 40 to 79 years.1 Neovascular AMD accounts for the majority of severe visual loss in Asian AMD patients. Retinal pigment epithelium detachment, subretinal fluid, hemorrhage, and fibrotic scar are common features in nAMD. Polypoidal choroidal vasculopathy (PCV) is another serious macular disease usually presented with subretinal polyp-like lesions, RPE detachment, retinal edema, and subretinal hemorrhage. In PCV, the inner choroidal vascular networks terminated in polypoidal lesions, which are different from the generalized choroidal neovascularization (CNV) in nAMD and best detected by indocyanine green angiography (ICGA). 3Polypoidal choroidal vasculopathy is reportedly more prevalent among Asians and African-Americans compared ...

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Association between vascular endothelial growth factor gene polymorphisms and age-related macular degeneration in a Polish population

Cited by 38 publications

References 12 publications

Roles of Three Common VEGF Polymorphisms in the Risk of Age-Related Macular Degeneration

Roles of Three Common VEGF Polymorphisms in the Risk of Age-Related Macular Degeneration

Vascular Endothelial Growth Factor Gene Polymorphisms and Risk of Neovascular Age-Related Macular Degeneration in a Chinese Cohort

Identification ofPGFas a New Gene for Neovascular Age-Related Macular Degeneration in a Chinese Population

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