Genetic Polymorphisms and Colorectal Cancer Risk
Summary
Inherited variations in DNA sequence, notably single nucleotide polymorphisms (SNPs), have been implicated in susceptibility to colorectal cancer (CRC). Polymorphic variants within genes governing inflammation, DNA repair, one-carbon metabolism and xenobiotic detoxification can modulate carcinogenic pathways at multiple levels. For example, allelic differences in pro-inflammatory cytokine genes may alter transcriptional activity and cytokine output, thereby influencing tumour promotion in the colonic mucosa. Similarly, polymorphisms in DNA-repair genes can affect the fidelity of mismatch repair or base excision repair, increasing mutational burden and microsatellite instability. Genome-wide association studies have also identified low-penetrance loci that collectively contribute to risk, with effect sizes often modest but detectable at a population level. The interplay between genetic and environmental factors—dietary fibre, red meat intake, smoking and body‐mass index—further shapes individual risk profiles. Emerging research emphasises the utility of polygenic risk scores and pathway-based models to stratify screening and tailor preventive interventions. Globally, elucidation of functional polymorphisms offers promise for personalised risk prediction, early detection strategies and targeted chemoprevention, particularly in populations exhibiting high CRC incidence or distinct genetic backgrounds.
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Genetic Polymorphisms and Colorectal Cancer Risk publication trend
The graph below shows the total number of articles in genetic polymorphisms and colorectal cancer risk across all publications each year (not limited to Nature Index journals).
Technical terms
Single nucleotide polymorphism (SNP): A variation at a single DNA base among individuals.
Genotype: The combination of alleles an individual carries at a particular genetic locus.
Allele: One of two or more versions of a DNA sequence at a given position.
Odds ratio (OR): A measure of association quantifying the odds of an outcome occurring with a particular exposure compared to without it.
References
- The Significant Impacts of Interleukin-8 Genotypes on the Risk of Colorectal Cancer in Taiwan. Cancers (2023).
- Genetic polymorphisms of IL-6 promoter in cancer susceptibility and prognosis: a meta-analysis. Oncotarget (2018).
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