{"title":"Three FGFR4 gene polymorphisms contribute to the susceptibility of urethral cancer in the middle and south of Iraq population","authors":"Zahraa Isam Jameel","doi":"10.1016/j.cancergen.2025.02.006","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Urothelial cell carcinoma is quite prevalent, making up close to 90 % of all cases. Men are more likely to suffer from it than women, and it mostly affects the elderly. Fibroblast growth factor receptor 4 (<em>FGFR4</em>) plays an important role in cell proliferation and cancer progression.</div></div><div><h3>Aim</h3><div>this study was conducted to assess the association between <em>FGFR4</em> gene polymorphism and the risk of Urothelial Cell Carcinoma in Iraq.</div></div><div><h3>Methods</h3><div>genomic DNA samples were extracted from a total 200 samples of blood. Three primers were designed to enhance three commonly observed genetic variation, rs2011077, rs351855, and rs1966265. The single strand conformation polymorphisms technique (SSCP) was genotyped and confirmed by further sequencing protocols.</div></div><div><h3>Results</h3><div>The results of this study show that cases with the G/A variant of the rs351855 genotype have a marked increase in risk to Urothelial Cell Carcinoma (<em>P</em> = 0.001, OR 0.32, 95 % CI 0.20 to 0.94). Cases with genotype rs2011077: T\\C has also associated with the increased the risk of UCC (<em>P</em> = 0.001, OR= 0.50, 95 % CI = 0.33 to 0.76). The Linkage Disequilibrium revealed a significant relationship between the T allele of the rs2011077 locus and the A allele of the rs351855 locus, leading to the formation of the T\\A haplotype in cases diagnosed with the UCC. Our results show that <em>FGFR</em>4 gene polymorphisms (rs351855 and rs2011077) have significant associations with increased risk of Urothelial Cell Carcinoma.</div></div><div><h3>Conclusion</h3><div>current study indicates that the specific polymorphisms have proven to be promising as a major genetic marker for identifying cases who may be more susceptible to diagnosis and recurrence Urothelial Cell Carcinoma.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 77-84"},"PeriodicalIF":1.4000,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cancer Genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2210776225000237","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Background
Urothelial cell carcinoma is quite prevalent, making up close to 90 % of all cases. Men are more likely to suffer from it than women, and it mostly affects the elderly. Fibroblast growth factor receptor 4 (FGFR4) plays an important role in cell proliferation and cancer progression.
Aim
this study was conducted to assess the association between FGFR4 gene polymorphism and the risk of Urothelial Cell Carcinoma in Iraq.
Methods
genomic DNA samples were extracted from a total 200 samples of blood. Three primers were designed to enhance three commonly observed genetic variation, rs2011077, rs351855, and rs1966265. The single strand conformation polymorphisms technique (SSCP) was genotyped and confirmed by further sequencing protocols.
Results
The results of this study show that cases with the G/A variant of the rs351855 genotype have a marked increase in risk to Urothelial Cell Carcinoma (P = 0.001, OR 0.32, 95 % CI 0.20 to 0.94). Cases with genotype rs2011077: T\C has also associated with the increased the risk of UCC (P = 0.001, OR= 0.50, 95 % CI = 0.33 to 0.76). The Linkage Disequilibrium revealed a significant relationship between the T allele of the rs2011077 locus and the A allele of the rs351855 locus, leading to the formation of the T\A haplotype in cases diagnosed with the UCC. Our results show that FGFR4 gene polymorphisms (rs351855 and rs2011077) have significant associations with increased risk of Urothelial Cell Carcinoma.
Conclusion
current study indicates that the specific polymorphisms have proven to be promising as a major genetic marker for identifying cases who may be more susceptible to diagnosis and recurrence Urothelial Cell Carcinoma.
期刊介绍:
The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.