CASP-9 gene functional polymorphisms and cancer risk: a large-scale association study plus meta-analysis
1Department of Medical Oncology, Shengjing Affiliated Hospital of China Medical University, Shenyang, Liaoning, China.
Genetic variations in CASP-9 influence cancer risk. The rs4645981 T allele may increase neoplasm susceptibility, while rs1052576 A and rs2308941 T alleles appear protective against cancer.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- The CASP-9 gene plays a critical role in apoptosis, a process often dysregulated in cancer.
- Polymorphisms in CASP-9 may alter its function and influence an individual's susceptibility to developing cancer.
Purpose of the Study:
- To investigate the association between CASP-9 gene polymorphisms and the risk of developing various types of cancer.
- To synthesize evidence from multiple studies through meta-analysis to determine the overall impact of specific CASP-9 variants on cancer susceptibility.
Main Methods:
- A systematic literature search was conducted to identify relevant studies investigating CASP-9 polymorphisms and cancer risk.
- A meta-analysis was performed on fourteen studies, including a total of 2733 cancer cases and 3352 healthy controls.
- Statistical analysis, including odds ratios (OR) and 95% confidence intervals (95%CI), was used to assess the association between specific CASP-9 alleles/genotypes and cancer susceptibility.
Main Results:
- The rs4645981 T allele and its carrier status were significantly associated with an increased risk of neoplasm (OR = 1.43, P = 0.004; OR = 1.46, P = 0.009).
- Conversely, the rs1052576 A allele, rs1052576 A carrier, rs2308941 T allele, and rs2308941 T carrier showed a decreased risk of cancer (OR = 0.72, P = 0.003; OR = 0.76, P = 0.004; OR = 0.20, P < 0.0001; OR = 0.21, P = 0.02).
- No significant associations were found for other tested CASP-9 polymorphisms (rs1263, rs1052571, rs2308950, rs4645978, rs4645980, rs4645982, rs4646018) with cancer risk.
Conclusions:
- CASP-9 gene polymorphisms are implicated in the pathogenesis of various cancers.
- The rs4645981 T allele may increase cancer risk, while the rs1052576 A and rs2308941 T alleles may confer a protective effect against cancer development.
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