rs10434
This variant is located in the VEGFA gene.
▶Research that mentions this SNP (2)
▶Common gene variants within 3′‐untranslated regions as modulators of multiple myeloma risk and survivalAssociationN=5,016Ombretta Melaiu et al.(2021)· International Journal of Cancer
This case-control study within the IMMEnSE consortium (3,056 MM patients and 1,960 controls) investigated associations between polymorphic 3' untranslated region (p3UTR) variants in six candidate genes and multiple myeloma (MM) risk and overall survival. IL10 rs3024496 A-allele showed significant association with increased MM risk (OR=1.20-1.24) and shorter overall survival (HR=1.42-1.44). Functional studies demonstrated the A-allele decreased IL10 mRNA expression by ~6%, consistent with in vivo GTEx data, suggesting rs3024496 modulates immune homeostasis and disease prognosis in MM.
▶Effect of polymorphisms in the 3′ untranslated region (3′‐UTR) of vascular endothelial growth factor gene on gastric cancer and peptic ulcer diseases in JapanAssociationN=850Tomomitsu Tahara et al.(2009)· Molecular Carcinogenesis
This case-control study of 450 Korean colorectal cancer (CRC) patients and 400 controls investigated the association of three VEGF 3'-UTR polymorphisms (rs3025040, rs10434, rs3025053) with CRC susceptibility and metabolic syndrome. VEGF 1451C>T (rs3025040) was significantly associated with rectal cancer risk (AOR=1.58, p=0.015), while VEGF 1725G>A (rs3025053) correlated with metabolic syndrome risk (AOR=1.61, p=0.026). Gene-environment interaction analyses revealed that VEGF 1451C>T combined with metabolic syndrome increased rectal cancer risk (AOR=3.15, p<0.001), and VEGF 1725G>A with metabolic syndrome elevated colon cancer risk (AOR=2.68, p=0.008).
About VEGFA
This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. The levels of VEGF are increased during infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), thus promoting inflammation by facilitating recruitment of inflammatory cells, and by increasing the level of angiopoietin II (Ang II), one of two products of the SARS-CoV-2 binding target, angiotensin-converting enzyme 2 (ACE2). In turn, Ang II facilitates the elevation of VEGF, thus forming a vicious cycle in the release of inflammatory cytokines. [provided by RefSeq, Jun 2020]
View all VEGFA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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