VEGFA SNPs (rs34357231 & rs35569394), Transcriptional Factor Binding Sites and Human Disease
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2015, Vol 10, Issue 12
Abstract
Purpose: The human vascular endothelial growth factor (VEGF)-A gene transcribes a signaling protein involved in the regulation of angiogenesis, vasculogenesis and endothelial cell growth. Two insertion/deletion (I/D) simple nucleotide polymorphisms (SNPs, rs34357231 & rs35569394) in the promoter region of the gene have been significantly associated with several human diseases. These SNPs were computationally examined with respect to changes in punitive transcriptional factor binding sites (TFBS) and these changes were discussed in relation to the diseases. Methods: The JASPAR CORE and ConSite databases were instrumental in identifying the TFBS. The Vector NTI Advance 11.5 computer program was employed in locating all the TFBS in the VEGFA gene from 2.7 kb upstream of the transcriptional start site to 1.6 kb past the 3’UTR. The JASPAR CORE database was also involved in computing each nucleotide occurrence (%) within the TFBS. Results: Regulatory SNPs (rSNPs) in the promoter region of the VEGFA gene alter the DNA landscape for potential transcriptional factors (TFs) to attach resulting in changes in TFBS. The VEGFA-deletion (D) allele of these SNPs has been found to be a risk factor for diabetic retinopathy, diabetic microvascular complications in patients with type 1 diabetes mellitus, breast cancer in north Indian patients, and bladder cancer. The changes in TFs associated with the TFBS are examined with respect to these human diseases. Conclusion: The VEGFA-insertion (I) allele provides punitive TFBS for the AR, EGR1 & 2, KLF5 and SP1 TFs whose BS do not occur with the VEGFA-D allele. These TFs have been linked to prostate cancer, cancer suppression and oncogenic processes and if not regulating the VEGFA gene may pose a risk for disease.
Authors and Affiliations
Norman E. Buroker
Keywords
Related Articles
- EP ID EP348478
- DOI 10.9734/BJMMR/2015/19777
- Views 61
- Downloads 0
The Potentiation of Anti-inflammatory Effect and INOS and COX-2 Gene Expression Inhibition by Rut in When Complexed with Cooper
Aims: The aim of this study was to evaluate both the antioxidant effect and anti-inflammatory activity of a new transition metal coordinated rut in compound, Rutin-Cu2 complex. Study Design: Flavonoids have proven antio...
Size of Maxillary Anterior Teeth in Relation to Selected Facial Anatomic Landmarks among a Group of Subjects in Port Harcourt
Aims: The study aims to correlate the intercanthal distance (ICD), interalar width (IAW), and intercommissural width (ICoW) to the intercanine width [ICW] and the width of the philtrum to the size of central incisors. St...
Sero-negative Antibody Status in HIV-Infected Children Initiated on Early Anti-Retroviral Therapy in Jos, Nigeria
Aim: To determine the association between the age at initiation of anti-retroviral therapy (ART) and the 18 month antibody status of human immunodeficiency virus (HIV)-infected children in Jos, Nigeria. Study Design: Thi...
Patient Delay in Accessing Breast Cancer Care in a Sub Saharan African Country: Uganda
Aims: To assess patient delay differences between early and late stage breast cancer among women in Uganda. Study Design: A retrospective analytical study. Place and Duration of the Study: A study conducted at a tertiar...
Schizophrenia and Its Association with Biological and Environmental Factors: A Community Based Study
Aims: The aim of this study was to examine the proportion of probable schizophrenia in Arab population visiting primary health care centers and investigate its associated biologic and environmental factors. Study Design...