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Association of MTHFR rs9651118 and TYMS rs2790 Polymorphisms with Risk of Cancers: A Case-Control Study and
Weiguang Zhou1, Yingxuan Xiao1, Yifan Jiang2
1Department of Biological Science and Technology, School of Chemistry, Chemical Engineering and Life Sciences, Wuhan University of Technology, Wuhan, Hubei, 430070, China.
Biochemical Genetics
|September 21, 2024
Summary
Genetic variants rs9651118 in MTHFR and rs2790 in TYMS are linked to cancer risk. This study confirms associations with colorectal, gastric, and liver cancers, particularly in Asian populations.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Single nucleotide polymorphisms (SNPs) rs9651118 (MTHFR gene) and rs2790 (TYMS gene) have been implicated in cancer risk.
- Previous studies on these genetic variants and cancer susceptibility have yielded conflicting results.
- A comprehensive investigation is needed to clarify the role of these SNPs in various cancer types.
Purpose of the Study:
- To replicate and validate the association of rs9651118 and rs2790 with cancer risk.
- To conduct a meta-analysis to consolidate evidence from existing studies.
- To investigate the contribution of these SNPs to colorectal, gastric, and liver cancer risk.
Main Methods:
- A replication case-control study was performed with 1727 cancer patients (colorectal, gastric, liver) and 800 healthy controls.
- Genotyping of rs9651118 and rs2790 was conducted using Sanger sequencing.
- A meta-analysis was performed including the current study and 23 previously published eligible studies.
Main Results:
- The case-control study identified significant associations between rs9651118 and colorectal/gastric cancer risk, and rs2790 and liver cancer risk in the Hubei Chinese population.
- The meta-analysis revealed significant associations of both rs9651118 and rs2790 with overall cancer risk, particularly in Asian populations.
- Further meta-analysis results indicated rs9651118 is associated with breast cancer risk and rs2790 with colorectal and gastric cancer risk, especially when using Sanger sequencing data.
Conclusions:
- The MTHFR gene variant rs9651118 is associated with overall cancer risk, notably breast cancer, in Asian populations.
- The TYMS gene variant rs2790 is linked to overall cancer risk, particularly colorectal cancer, in Asian populations, and gastric cancer risk overall.
- These findings highlight the potential role of MTHFR rs9651118 and TYMS rs2790 in cancer susceptibility, warranting further research.
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