1. Association of genetic polymorphism rs2071676 in carbonic anhydrase gene (CA9) with the risk of squamous cell carcinoma of lungs and esophagus
- Author
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Ramsha Khan, Sara Hasan, Saima Saleem, Sitwat Zehra, Ghulam Haider, Abid Azhar, and Faria Fatima
- Subjects
Mutation ,business.industry ,Single-nucleotide polymorphism ,Cell Biology ,Plant Science ,Odds ratio ,medicine.disease_cause ,Biochemistry ,law.invention ,medicine.anatomical_structure ,law ,Polymorphism (computer science) ,Cancer cell ,Genetics ,medicine ,Cancer research ,SNP ,Animal Science and Zoology ,Esophagus ,business ,Molecular Biology ,Ecology, Evolution, Behavior and Systematics ,Polymerase chain reaction - Abstract
Esophageal and lung Squamous Cell Carcinoma (SCC) pose a serious threat to health as they are amongst the most prevalent cancers in Pakistan. Increased metabolic and energy needs within the proliferating cancer cells results in hypoxia, affecting the homeostatic balance within the tumor microenvironment. Under these circumstances, key hypoxia-regulated genes like CA9 have major role in the survival and invasiveness of malignant tumors. This study targeted the single nucleotide polymorphism rs2071676 in CA9 to find its association with the risk of ESCC and LSCC. The non-synonymous function of this polymorphism cause the base pair to change from guanine to adenine that changes the amino acid associated with the signal peptide domain of CAIX protein from valine to methionine. Blood samples and data from 127 cases with ESCC, 73 patients with LSCC and from their age and sex-matched healthy controls were collected. Genomic DNA were extracted through standard phenol-chloroform method. Assessment of targeted polymorphism was performed through tetra-primer Amplified Refractory Mutation System Polymerase Chain Reaction (t-ARMS PCR). Pearson’s chi-square value gave statistically significant association of the SNP with LSCC (χ2 = 47.104) and ESCC (χ2 = 87.804), both with p
- Published
- 2021
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