Localization, Minor Allele Frequency, Demonstrated/Putative Function, Biological Implications, and Association with Cancer Prognosis of Analyzed Polymorphisms
| SNPs per Gene . | Region . | MAF . | Demonstrated/Putative Function . | Preclinical Data on Functional Implicationsa . | Prognostic Value in Cancera . |
|---|---|---|---|---|---|
| VEGF-A | |||||
| −2578 C>A (rs699947) | Promoter | 0.324 | Gene expression through modification of TFBS | Homozygous minor AA genotype associated with lower VEGF-A production in an in vitro model of PBMC (18) | Colorectal (6), Kidney (7) |
| −460 T>C (rs833061) | Promoter | 0.369 | Gene expression through modification of TFBS | No preclinical data available | Gynecological (8, 11), Lung (12) |
| +405 G>C (rs2010963) | 5′ UTR | 0.326 | Gene expression through modification of TFBS | Homozygous minor CC genotype associated with lower VEGF-A production in an in vitro model of PBMC (14) | Colorectal (6), Breast (10), Gynecological (11), Lung (12) |
| +936 C>T (rs3025039) | 3′ UTR | 0.133 | Posttranscriptional regulation through modulation of mRNA stability | No preclinical data available | Colorectal (6, 13) |
| VEGFR-2 | |||||
| +1192 C>T (rs2305948) | Coding region | 0.152 | Ligand affinity through amino acid substitution within the extracellular domain (297V>I) | Combination of the minor alleles T and A (codifying for the VEGFR-2 IQ variant) associated with the lowest VEGF-A–binding efficiency in an in vitro model of HEK293 cells (17) | Colorectal (15) |
| +1719 T>A (rs1870377) | Coding region | 0.211 | Ligand affinity through amino acid substitution within the extracellular domain (472H>Q) | Diffuse large B-cell lymphoma (16) |
| SNPs per Gene . | Region . | MAF . | Demonstrated/Putative Function . | Preclinical Data on Functional Implicationsa . | Prognostic Value in Cancera . |
|---|---|---|---|---|---|
| VEGF-A | |||||
| −2578 C>A (rs699947) | Promoter | 0.324 | Gene expression through modification of TFBS | Homozygous minor AA genotype associated with lower VEGF-A production in an in vitro model of PBMC (18) | Colorectal (6), Kidney (7) |
| −460 T>C (rs833061) | Promoter | 0.369 | Gene expression through modification of TFBS | No preclinical data available | Gynecological (8, 11), Lung (12) |
| +405 G>C (rs2010963) | 5′ UTR | 0.326 | Gene expression through modification of TFBS | Homozygous minor CC genotype associated with lower VEGF-A production in an in vitro model of PBMC (14) | Colorectal (6), Breast (10), Gynecological (11), Lung (12) |
| +936 C>T (rs3025039) | 3′ UTR | 0.133 | Posttranscriptional regulation through modulation of mRNA stability | No preclinical data available | Colorectal (6, 13) |
| VEGFR-2 | |||||
| +1192 C>T (rs2305948) | Coding region | 0.152 | Ligand affinity through amino acid substitution within the extracellular domain (297V>I) | Combination of the minor alleles T and A (codifying for the VEGFR-2 IQ variant) associated with the lowest VEGF-A–binding efficiency in an in vitro model of HEK293 cells (17) | Colorectal (15) |
| +1719 T>A (rs1870377) | Coding region | 0.211 | Ligand affinity through amino acid substitution within the extracellular domain (472H>Q) | Diffuse large B-cell lymphoma (16) |
Abbreviations: MAF, minor allele frequency; PBMC, peripheral blood mononuclear cell; TFBS, transcription factor binding site; UTR, untranslated region.
Values in parentheses are reference citations.
Localization, Minor Allele Frequency, Demonstrated/Putative Function, Biological Implications, and Association with Cancer Prognosis of Analyzed Polymorphisms
| SNPs per Gene . | Region . | MAF . | Demonstrated/Putative Function . | Preclinical Data on Functional Implicationsa . | Prognostic Value in Cancera . |
|---|---|---|---|---|---|
| VEGF-A | |||||
| −2578 C>A (rs699947) | Promoter | 0.324 | Gene expression through modification of TFBS | Homozygous minor AA genotype associated with lower VEGF-A production in an in vitro model of PBMC (18) | Colorectal (6), Kidney (7) |
| −460 T>C (rs833061) | Promoter | 0.369 | Gene expression through modification of TFBS | No preclinical data available | Gynecological (8, 11), Lung (12) |
| +405 G>C (rs2010963) | 5′ UTR | 0.326 | Gene expression through modification of TFBS | Homozygous minor CC genotype associated with lower VEGF-A production in an in vitro model of PBMC (14) | Colorectal (6), Breast (10), Gynecological (11), Lung (12) |
| +936 C>T (rs3025039) | 3′ UTR | 0.133 | Posttranscriptional regulation through modulation of mRNA stability | No preclinical data available | Colorectal (6, 13) |
| VEGFR-2 | |||||
| +1192 C>T (rs2305948) | Coding region | 0.152 | Ligand affinity through amino acid substitution within the extracellular domain (297V>I) | Combination of the minor alleles T and A (codifying for the VEGFR-2 IQ variant) associated with the lowest VEGF-A–binding efficiency in an in vitro model of HEK293 cells (17) | Colorectal (15) |
| +1719 T>A (rs1870377) | Coding region | 0.211 | Ligand affinity through amino acid substitution within the extracellular domain (472H>Q) | Diffuse large B-cell lymphoma (16) |
| SNPs per Gene . | Region . | MAF . | Demonstrated/Putative Function . | Preclinical Data on Functional Implicationsa . | Prognostic Value in Cancera . |
|---|---|---|---|---|---|
| VEGF-A | |||||
| −2578 C>A (rs699947) | Promoter | 0.324 | Gene expression through modification of TFBS | Homozygous minor AA genotype associated with lower VEGF-A production in an in vitro model of PBMC (18) | Colorectal (6), Kidney (7) |
| −460 T>C (rs833061) | Promoter | 0.369 | Gene expression through modification of TFBS | No preclinical data available | Gynecological (8, 11), Lung (12) |
| +405 G>C (rs2010963) | 5′ UTR | 0.326 | Gene expression through modification of TFBS | Homozygous minor CC genotype associated with lower VEGF-A production in an in vitro model of PBMC (14) | Colorectal (6), Breast (10), Gynecological (11), Lung (12) |
| +936 C>T (rs3025039) | 3′ UTR | 0.133 | Posttranscriptional regulation through modulation of mRNA stability | No preclinical data available | Colorectal (6, 13) |
| VEGFR-2 | |||||
| +1192 C>T (rs2305948) | Coding region | 0.152 | Ligand affinity through amino acid substitution within the extracellular domain (297V>I) | Combination of the minor alleles T and A (codifying for the VEGFR-2 IQ variant) associated with the lowest VEGF-A–binding efficiency in an in vitro model of HEK293 cells (17) | Colorectal (15) |
| +1719 T>A (rs1870377) | Coding region | 0.211 | Ligand affinity through amino acid substitution within the extracellular domain (472H>Q) | Diffuse large B-cell lymphoma (16) |
Abbreviations: MAF, minor allele frequency; PBMC, peripheral blood mononuclear cell; TFBS, transcription factor binding site; UTR, untranslated region.
Values in parentheses are reference citations.
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