ArticleHuman mutation2014
Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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The trial behind it
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Who cites it
11 citing papers in PubMed.
- Association of uncertain significance genetic variants with myocardial mechanics and morphometrics in patients with nonischemic dilated cardiomyopathy.BMC cardiovascular disorders · 2024Article
- Vascular endothelial growth factor-A promoter polymorphisms, circulating VEGF-A and survival in acute coronary syndromes.PloS one · 2021Article
- Prognostic effect of VEGF gene variants in metastatic non-small-cell lung cancer patients.Angiogenesis · 2019Article
- Genetic variants in the VEGF pathway as prognostic factors in stages II and III colon cancer.The pharmacogenomics journal · 2018Article
- Preparation and characterization of Fe3O4@Au-C225 composite targeted nanoparticles for MRI of human glioma.PloS one · 2018Article
- KRAS genetic variant as a prognostic factor for recurrence in resectable non-small cell lung cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2017Article
- Genetic variations in the VEGF pathway as prognostic factors in metastatic colorectal cancer patients treated with oxaliplatin-based chemotherapy.The pharmacogenomics journal · 2015Article
- Vascular endothelial growth factor -2578C/A polymorphism and colorectal cancer risk: A meta-analysis.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2015Review
- Functional FLT1 Genetic Variation is a Prognostic Factor for Recurrence in Stage I-III Non-Small-Cell Lung Cancer.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2015Article
- Deciphering next-generation pharmacogenomics: an information technology perspective.Open biology · 2014Article
- Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs.EMBO reports · 2014Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
Angiogenesis is a host-mediated mechanism in disease pathophysiology. The vascular endothelial growth factor (VEGF) pathway is a major determinant of angiogenesis, and a comprehensive annotation of the functional variation in this pathway is essential to understand the genetic basis of angiogenesis-related diseases. We assessed the allelic heterogeneity of gene expression, population specificity of cis expression quantitative trait loci (eQTLs), and eQTL function in luciferase assays in CEU and Yoruba people of Ibadan, Nigeria (YRI) HapMap lymphoblastoid cell lines in 23 resequenced genes. Among 356 cis-eQTLs, 155 and 174 were unique to CEU and YRI, respectively, and 27 were shared between CEU and YRI. Two cis-eQTLs provided mechanistic evidence for two genome-wide association study findings. Five eQTLs were tested for function in luciferase assays and the effect of two KRAS variants was concordant with the eQTL effect. Two eQTLs found in each of PRKCE, PIK3C2A, and MAP2K6 could predict 44%, 37%, and 45% of the variance in gene expression, respectively. This is the first analysis focusing on the pattern of functional genetic variation of the VEGF pathway genes in CEU and YRI populations and providing mechanistic evidence for genetic association studies of diseases for which angiogenesis plays a pathophysiologic role.
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