Genetic variants in complement-related genes: potential implications for cancer risk and progression
The complement system is a critical component of the immune system, playing a significant role in pathogen defense and immune regulation. In cancer, it has a complex and dual role, either aiding in immune surveillance or contributing to tumor progression and immune evasion, depending on the specific...
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Elsevier
2025-07-01
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| Series: | Immunobiology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S0171298525002347 |
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| author | Jenny N. Fung Ruben Pio |
| author_facet | Jenny N. Fung Ruben Pio |
| author_sort | Jenny N. Fung |
| collection | DOAJ |
| description | The complement system is a critical component of the immune system, playing a significant role in pathogen defense and immune regulation. In cancer, it has a complex and dual role, either aiding in immune surveillance or contributing to tumor progression and immune evasion, depending on the specific context. While genetic and epigenetic regulation of complement-related genes has been studied in various diseases, its influence on cancer remains underexplored. This review focuses on how genetic variants in complement pathway genes may modulate cancer susceptibility, progression, and treatment outcomes. Genome-wide association studies (GWAS) have identified several key single nucleotide polymorphisms (SNPs) linked to complement genes, such as C3, C7, CFHR4 and ITGB2, which could influence immune responses and cancer development. Additionally, epigenetic modifications, such as DNA methylation, have been shown to regulate the expression of complement genes in cancer, adding further complexity to our understanding of their role in tumor immunity. Challenges remain in translating genetic and epigenetic insights into therapeutic strategies. The complex nature of cancer, tissue-specific complement regulation, and the difficulty in identifying reliable biomarkers complicate the development of targeted complement-based therapies for precision medicine. Therefore, future research combining genetic, genomic, and epigenomic data, along with functional genomics and proteomics, is needed to elucidate the potential roles of regulatory variants of complement genes in cancer. In addition to mechanistic studies, this information can be used to guide personalized treatment strategies for cancer patients. |
| format | Article |
| id | doaj-art-92fef0dc99d04c4a81b07af49bb7e9b1 |
| institution | Matheson Library |
| issn | 0171-2985 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Immunobiology |
| spelling | doaj-art-92fef0dc99d04c4a81b07af49bb7e9b12025-07-21T04:09:44ZengElsevierImmunobiology0171-29852025-07-012304153100Genetic variants in complement-related genes: potential implications for cancer risk and progressionJenny N. Fung0Ruben Pio1School of Biomedical Sciences, The University of Queensland, St Lucia, Brisbane, Australia; Corresponding author.Program in Solid Tumors, Cima Universidad de Navarra, Cancer Center Clínica Universidad de Navarra (CCUN), Pamplona, Spain; Navarra's Health Research Institute (IdiSNA), Pamplona, Spain; Department of Biochemistry and Genetics, School of Sciences, Universidad de Navarra, Pamplona, Spain; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Madrid, SpainThe complement system is a critical component of the immune system, playing a significant role in pathogen defense and immune regulation. In cancer, it has a complex and dual role, either aiding in immune surveillance or contributing to tumor progression and immune evasion, depending on the specific context. While genetic and epigenetic regulation of complement-related genes has been studied in various diseases, its influence on cancer remains underexplored. This review focuses on how genetic variants in complement pathway genes may modulate cancer susceptibility, progression, and treatment outcomes. Genome-wide association studies (GWAS) have identified several key single nucleotide polymorphisms (SNPs) linked to complement genes, such as C3, C7, CFHR4 and ITGB2, which could influence immune responses and cancer development. Additionally, epigenetic modifications, such as DNA methylation, have been shown to regulate the expression of complement genes in cancer, adding further complexity to our understanding of their role in tumor immunity. Challenges remain in translating genetic and epigenetic insights into therapeutic strategies. The complex nature of cancer, tissue-specific complement regulation, and the difficulty in identifying reliable biomarkers complicate the development of targeted complement-based therapies for precision medicine. Therefore, future research combining genetic, genomic, and epigenomic data, along with functional genomics and proteomics, is needed to elucidate the potential roles of regulatory variants of complement genes in cancer. In addition to mechanistic studies, this information can be used to guide personalized treatment strategies for cancer patients.http://www.sciencedirect.com/science/article/pii/S0171298525002347Complement systemImmune responseCancerGenetic variantsFunctional GenomicsEpigenetic regulation |
| spellingShingle | Jenny N. Fung Ruben Pio Genetic variants in complement-related genes: potential implications for cancer risk and progression Immunobiology Complement system Immune response Cancer Genetic variants Functional Genomics Epigenetic regulation |
| title | Genetic variants in complement-related genes: potential implications for cancer risk and progression |
| title_full | Genetic variants in complement-related genes: potential implications for cancer risk and progression |
| title_fullStr | Genetic variants in complement-related genes: potential implications for cancer risk and progression |
| title_full_unstemmed | Genetic variants in complement-related genes: potential implications for cancer risk and progression |
| title_short | Genetic variants in complement-related genes: potential implications for cancer risk and progression |
| title_sort | genetic variants in complement related genes potential implications for cancer risk and progression |
| topic | Complement system Immune response Cancer Genetic variants Functional Genomics Epigenetic regulation |
| url | http://www.sciencedirect.com/science/article/pii/S0171298525002347 |
| work_keys_str_mv | AT jennynfung geneticvariantsincomplementrelatedgenespotentialimplicationsforcancerriskandprogression AT rubenpio geneticvariantsincomplementrelatedgenespotentialimplicationsforcancerriskandprogression |