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Showing 3 results for Snp
Sodabeh Jahanbakhsh-Godehkahriz , Elnaz Naderi , Ashraf Mohamadkhani ,
Volume 13, Issue 3 (10-2013)
Abstract
Background & Objectives: Non-synonymous single nucleotide polymorphism (nsSNPs) which results in disruption of protein function are used as markers in linkage and association of human proteins that might be involved in diseases and cancers . Methods: To study the functional effect of nsSNP in cyclooxygenase-2 (COX2 ) amino acids, the nucleotide sequences encoding COX-2 gene in cancers were extracted from the NCBI (gi|223941909) data bank (283 cases) and analyzed by SIFT, I-Mutant 2.0, SNP and GO, PANTHER and FASTSNP servers. These servers involve programs that predict the effects of amino acid substitution on protein function, stability and missense . Results: COX-2 is an essential enzyme for the production of pro-inflammatory prostaglandins which are relevant to cancer development and progression. The substitutions in some positions such as R228H and S428A of COX-2 in most of cancers linked to reformed protein function through disruption in enzyme active site. Conclusion: Amino acid substitutions as a consequence of COX-2 nsSNPs have important role in human disease. Substitutions which are located in catalytic domain are important for the enzymatic function of COX-2 and associated with higher expression of COX-2.
Homa Akhavan Aghghaleh, Najmeh Ranji, Hadi Habibollahi,
Volume 21, Issue 1 (4-2021)
Abstract
Background & Objectives: Gastric cancer is the fourth most common cancer in the world and Ardabil province is in the top ranks in the world. MicroRNAs are non-coding RNA molecules with a length of 18 to 21 nucleotides and due to their regulatory role in post- transcriptional gene expression; single nucleotide polymorphisms (SNPs) could affect their function on target genes regulation.
Methods: Genomic DNA was extracted from peripheral blood of 150 healthy volunteers, which were born and living in Ardabil province, 30 SNPs in microRNA genes have been detected by the Whole Exome Sequencing assay. Then, the obtained results were evaluated using Sanger-based PCR-Sequencing method. The Pearson correlation test was used for finding significant relationships.
Results: After confirming the WES results, the population frequency of the selected variants was compared with the general populations of Iran, Europe and the world. Based on the age-standardized rate (ASR), six variants with significant differences, including rs10061133, rs12220909, rs12983273, rs2292832, rs2505901 and rs6505162 were observed.
Conclusion: According to the previous case-control studies which indicate the association between the variants rs10061133, rs12220909, rs12983273, rs2505901, and rs6505162 and gastric carcinogenesis in various populations, the observed significant differences in our population could imply on the presence of the cancer susceptibility in Ardabil province.
Homa Akhavan Aghghaleh, Najmeh Ranji, Hadi Habibollahi,
Volume 24, Issue 3 (10-2024)
Abstract
Background: Gastric cancer is a type of malignancy that affects the digestive system. Symptoms of gastric cancer are often hard to detect in the early stages, and become more noticeable only after cancer cells have grown inside the stomach wall and spread to other parts of the body. The genetic code of the cancer cells is located within the genome. Synonymous and non-synonymous mutations are two subgroups of SNP codes. The purpose of this study was to investigate the correlation between genetic variants and susceptibility to gastric cancer in Ardabil province.
Methods: The distribution of variants in the genomic DNA of 150 volunteers from the general population of Ardabil was determined using whole exome sequencing. Databases such as Iranome, Alfa, GnomAD, and 1000G were used to compare allele frequencies. After calculating the frequency of variants using standard methods, Pearson correlation was utilized to statistically analyze their correlation with age-standardized incidence rates (ASRs) for gastric cancer in related populations. A p-value below 0.05 was deemed statistically significant for all analyses. Statistical analysis was conducted using IBM SPSS Statistics version 25.
Results: Significant differences in 19 variants , including rs10061133, rs1050631, rs12220909, rs12983273, rs1695, rs2274223, rs2292832, rs2294008, rs2505901, rs2976391, rs33927012, rs3744037, rs3745469, rs4789936, rs4986790, rs4986791, rs6194, rs63750447, and rs6505162 were found between the general population of Ardabil and other populations. A statistically significant difference was observed and reported at the 0.05 and 0.01 levels in relation to the correlation between the desired variants.
Conclusion: Results suggest a correlation between gene variants in carcinogenesis, highlighting the need for functional studies on gene cooperation in gastric cancer development.
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