Association of specific single nucleotide variants (SNVs) in the promoter and 3′-Untranslated region of Vascular Endothelial growth factor (VEGF) gene with risk and higher tumour grade of head and neck cancers

Oral Oncology ◽  
2021 ◽  
Vol 122 ◽  
pp. 105519
Author(s):  
Sadia Ajaz ◽  
Rabbia Muneer ◽  
Aisha Siddiqa ◽  
Muhammad Ali Memon ◽  
Sadaf Firasat ◽  
...  
2021 ◽  
Author(s):  
Sadia Ajaz ◽  
Rabbia Muneer ◽  
Aisha Siddiqa ◽  
Muhammad Ali Memon ◽  
Sadaf Firasat ◽  
...  

AbstractBackgroundVascular Endothelial Growth Factor (VEGF) has a potent role in tumorigenesis and metastasis. However, data for the role of common single nucleotide variants (SNVs) in the highly polymorphic VEGF gene in head and neck cancers (HNCs) is limited in general and unavailable in South Asian populations.The present study addresses this shortfall. It investigates the association of two VEGF SNVs, −2578 C/A (rs699947) in the promoter region and +936 C/T (rs3025039) in 3’-UTR, with the risk of HNCs and tumour characteristics.MethodsThe study comprised 323 participants with 121 HNC patients and 202 controls. Germline DNA was isolated from peripheral blood samples. PCR-RFLP methods were optimized and validated by Sanger sequencing. After Hardy-Weinberg evaluation, the independent associations were analyzed by applying genetic models. The χ2 test of independence or Fisher’s Exact test (significant p-values at <0.05) were performed and ORs (odds ratios) with 95% confidence interval were tabulated.ResultsVEGF −2578 A-allele, A-carrier and AA genotypes had significant protective association against HNCs. The respective ORs were: 0.651 (0.469 – 0.904), 0.613 (0.381 – 0.985), and 0.393 (0.193 – 0.804). VEGF +936 T-allele, CT and T-carrier genotypes had significantly increased susceptibility for HNCs. The respective ORs were 1.882 (1.001 – 3.536), 2.060 (1.035 – 4.102), and 2.023 (1.032 – 3.966). Additionally, VEGF +936 CT and T-carrier genotypes showed significant associations with higher tumour grade (p-value <0.029, and <0.037, respectively).ConclusionThe present study is the foremost report of independent and unique associations of the investigated VEGF SNVs with HNCs.


2007 ◽  
Vol 9 (2) ◽  
pp. 170-178 ◽  
Author(s):  
Amy H. T. Davis ◽  
Jianhua Wang ◽  
Tom C. Tsang ◽  
David T. Harris

Since the sequencing of the human genome, there has been increased interest in understanding the distribution and effects of genetic variations among individuals. Restriction fragment length polymorphism (RFLP) is a well-established and frequently used method for genotyping. This method, however, is indirect and has a number of limitations. It is thus important to reevaluate the use of RFLP in light of more contemporary methods of genotyping. The specific aims of this study are to (a) compare genotyping methods of traditional RFLP with contemporary direct sequencing for accurate identification of polymorphisms within the human vascular endothelial growth factor (VEGF) gene and (b) describe distribution of a known single nucleotide polymorphism (SNP) in the VEGF gene in a sample composed of 50 healthy volunteers. Polymerase chain reaction (PCR) was used to amplify the initial sample of DNA. Genotypes of a G-to-A substitution (GG, AG, AA) at -1154 were analyzed by RFLP and direct sequencing. RFLP was unable to discriminate among the three possible genotypes, whereas direct sequencing clearly identified genotype for all 50 samples. Observed genotype frequencies were comparable with the Hardy-Weinberg principle. This comparative study provides justification for selecting direct sequencing instead of RFLP for detecting SNPs in selected genes.


Sign in / Sign up

Export Citation Format

Share Document