{"title":"Association of Insertion/Deletion Polymorphisms of MDM2, MCP-1 and VEGF with Esophageal Cancer Risk in North-West Indians: A Case - Control Study.","authors":"Deepanshi Mahajan, Vasudha Sambyal, Manjit Singh Uppal, Meena Sudan, Kamlesh Guleria","doi":"10.31557/APJCP.2025.26.5.1623","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>The carcinogenesis process in esophageal cancer (EC), a highly heterogeneous and multifaceted disease, is influenced by both tumor angiogenesis and chronic inflammation pathways. Genetic variants in these pathways may affect the progression and development of EC, ultimately contributing to different susceptibilities to cancer among individuals.</p><p><strong>Methods: </strong>In this study, a total of 536 subjects were recruited, including 260 EC patients and 276 healthy individuals. The DNA was isolated from the blood samples of the participants using the standard phenol-chloroform method. The three insertion/deletion (ins/del) polymorphisms (VEGF-2549 18bp I/D, MDM2 40bp I/D, and MCP-1 14bp I/D) were screened using the Direct-polymerase chain reaction (PCR) genotyping method. The role of gene-environment interactions on EC risk was assessed using the Multifactor Dimensionality Reduction (MDR) software (version 3.0.2).</p><p><strong>Results: </strong>It was observed that the individuals carrying the II genotype and I allele of the VEGF-2549 18bp I/D polymorphism, as well as the carriers of the ID and DD genotypes and D allele of the MCP-1 14bp I/D polymorphism had a higher risk of developing EC. No association between the MDM2 40bp I/D polymorphism and EC risk was reported in this study. Genotype combination analysis revealed an increased EC risk in the carriers of the II-II-II genotype combination of the VEGF-2549 18bp I/D, MDM2 40bp I/D, and MCP-1 14bp I/D polymorphisms compared to those with other genotype combinations. The gene-environment interaction analysis also indicated a strong interaction between lifestyle factors and genetic polymorphisms in influencing EC risk.</p><p><strong>Conclusion: </strong>The present study concluded that the VEGF-2549 18bp I/D and MCP-1 14bp I/D variants were associated with EC risk in the North-west Indians.</p>","PeriodicalId":55451,"journal":{"name":"Asian Pacific Journal of Cancer Prevention","volume":"26 5","pages":"1623-1631"},"PeriodicalIF":0.0000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Asian Pacific Journal of Cancer Prevention","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31557/APJCP.2025.26.5.1623","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Background: The carcinogenesis process in esophageal cancer (EC), a highly heterogeneous and multifaceted disease, is influenced by both tumor angiogenesis and chronic inflammation pathways. Genetic variants in these pathways may affect the progression and development of EC, ultimately contributing to different susceptibilities to cancer among individuals.
Methods: In this study, a total of 536 subjects were recruited, including 260 EC patients and 276 healthy individuals. The DNA was isolated from the blood samples of the participants using the standard phenol-chloroform method. The three insertion/deletion (ins/del) polymorphisms (VEGF-2549 18bp I/D, MDM2 40bp I/D, and MCP-1 14bp I/D) were screened using the Direct-polymerase chain reaction (PCR) genotyping method. The role of gene-environment interactions on EC risk was assessed using the Multifactor Dimensionality Reduction (MDR) software (version 3.0.2).
Results: It was observed that the individuals carrying the II genotype and I allele of the VEGF-2549 18bp I/D polymorphism, as well as the carriers of the ID and DD genotypes and D allele of the MCP-1 14bp I/D polymorphism had a higher risk of developing EC. No association between the MDM2 40bp I/D polymorphism and EC risk was reported in this study. Genotype combination analysis revealed an increased EC risk in the carriers of the II-II-II genotype combination of the VEGF-2549 18bp I/D, MDM2 40bp I/D, and MCP-1 14bp I/D polymorphisms compared to those with other genotype combinations. The gene-environment interaction analysis also indicated a strong interaction between lifestyle factors and genetic polymorphisms in influencing EC risk.
Conclusion: The present study concluded that the VEGF-2549 18bp I/D and MCP-1 14bp I/D variants were associated with EC risk in the North-west Indians.
期刊介绍:
Cancer is a very complex disease. While many aspects of carcinoge-nesis and oncogenesis are known, cancer control and prevention at the community level is however still in its infancy. Much more work needs to be done and many more steps need to be taken before effective strategies are developed. The multidisciplinary approaches and efforts to understand and control cancer in an effective and efficient manner, require highly trained scientists in all branches of the cancer sciences, from cellular and molecular aspects to patient care and palliation.
The Asia Pacific Organization for Cancer Prevention (APOCP) and its official publication, the Asia Pacific Journal of Cancer Prevention (APJCP), have served the community of cancer scientists very well and intends to continue to serve in this capacity to the best of its abilities. One of the objectives of the APOCP is to provide all relevant and current scientific information on the whole spectrum of cancer sciences. They aim to do this by providing a forum for communication and propagation of original and innovative research findings that have relevance to understanding the etiology, progression, treatment, and survival of patients, through their journal. The APJCP with its distinguished, diverse, and Asia-wide team of editors, reviewers, and readers, ensure the highest standards of research communication within the cancer sciences community across Asia as well as globally.
The APJCP publishes original research results under the following categories:
-Epidemiology, detection and screening.
-Cellular research and bio-markers.
-Identification of bio-targets and agents with novel mechanisms of action.
-Optimal clinical use of existing anti-cancer agents, including combination therapies.
-Radiation and surgery.
-Palliative care.
-Patient adherence, quality of life, satisfaction.
-Health economic evaluations.