Abstract
Background
Colorectal cancer (CRC) is a global health concern, including in Indonesia. Genetic factors, particularly those affecting immune regulation and tumor immune evasion, contribute significantly to CRC pathogenesis The cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) gene, which encodes an immune checkpoint receptor, influences T-cell activation and immune response. Certain CTLA4 gene polymorphism has been associated with altered immune function and increased risk of CRC.
Objectives
This study aims to explore the potential role of CTLA4-658C>T as a genetic marker for CRC susceptibility.
Methods
This case-control study included 60 colorectal cancer (CRC) patients and 60 non-CRC patients from January 2023 to December 2024 at Universitas Sumatera Utara Hospital and its network hospitals. CRC patients aged 18 years or older were included in the case group, while patients with non-CRC findings after colonoscopy served as controls. Patients with systemic diseases (e.g., diabetes, heart or kidney failure, other cancers) were excluded. Data on demographics and CRC characteristics were collected from medical records. Participants were interviewed to complete missing data and provided blood samples for CTLA4-658C>T polymorphism analysis.
Results
The CTLA4-658T>C polymorphism was significantly associated with colorectal cancer (CRC). Individuals with the CC+CT genotype had a 2.69-fold higher risk of developing CRC than those with the TT genotype (p=0.022). Additionally, carriers of the C allele had a 2.26-fold higher risk of CRC than those with the T allele (p=0.015).
Conclusion
These findings suggest that CTLA4-658C>T may serve as a potential genetic marker for CRC susceptibility, highlighting the role of immune regulation in CRC development.