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XRCC1 Arg399Gln Genetic Variant Increases Colorectal Cancer Susceptibility: A Comprehensive Meta-Analysis
Praveen Kumar Kampalli1, Mohan Krishna Ghanta2, Rishitha Chowdary Mavillapalli3
1Department of Bioscience & Biotechnology, Banasthali University, Rajasthan, India.
Asian Pacific Journal of Cancer Prevention : APJCP
|November 28, 2025
Summary
The XRCC1 Arg399Gln polymorphism is linked to a higher risk of colorectal cancer (CRC). However, other XRCC1 gene variants, Arg194Trp and Arg280His, do not show a significant association with CRC risk.
Area of Science:
- Genetics and Cancer Epidemiology
- Molecular Biology and Disease Risk
Background:
- Colorectal cancer (CRC) is a leading cause of cancer mortality globally.
- Inherited genetic variants in DNA repair enzymes, such as XRCC1, are implicated in CRC risk.
- Previous studies on XRCC1 polymorphisms and CRC risk have yielded inconsistent results across populations.
Purpose of the Study:
- To conduct a comprehensive meta-analysis evaluating the association between three common XRCC1 gene polymorphisms (Arg194Trp, Arg280His, and Arg399Gln) and colorectal cancer risk.
- To synthesize evidence from multiple case-control studies to clarify the role of XRCC1 variants in CRC susceptibility.
Main Methods:
- A meta-analysis combining data from 52 independent case-control studies.
- Specific analyses included 23 studies for Arg194Trp, 8 for Arg280His, and 42 for Arg399Gln.
- Statistical methods were employed to assess the overall risk and explore potential ethnic variations.
Main Results:
- A statistically significant correlation was found between the XRCC1 Arg399Gln polymorphism and an increased risk of colorectal cancer (OR = 1.10, 95% CI = 1.01-1.20).
- Subgroup analyses by ethnicity (Asian and Caucasian populations) did not reveal a significant association between any of the studied XRCC1 polymorphisms and CRC risk.
- No evidence of publication bias was detected in the meta-analysis.
Conclusions:
- The XRCC1 Arg399Gln polymorphism may be associated with increased susceptibility to colorectal cancer.
- The XRCC1 Arg194Trp and Arg280His polymorphisms are not significantly associated with colorectal cancer risk.
- Further research may be warranted to elucidate the precise role of XRCC1 variants in colorectal cancer development.
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