Colorectal Cancer Risk Prediction Using the rs4939827 Polymorphism of the SMAD7 Gene in the Romanian Population

Area of Science:

• Oncology
• Genetics
• Molecular Biology

Background:

• Colorectal cancer (CRC) is a leading cause of cancer mortality globally.
• Rising CRC incidence highlights the critical need for early detection strategies.
• Genetic factors, such as gene variants, play a role in cancer development.

Purpose of the Study:

• To investigate the association between the SMAD7 gene variant rs4939827 and colorectal cancer (CRC) risk.
• To evaluate the correlation of this SNP with CRC clinicopathological characteristics.
• To explore the potential of SMAD7 variants in early CRC diagnosis.

Main Methods:

• Case-control study involving 170 CRC patients and 170 healthy controls.
• Genotyping of the SMAD7 rs4939827 variant using TaqMan assay and Real-Time PCR.
• Statistical analysis to assess the association between the gene variant and CRC risk.

Main Results:

• The C allele of SMAD7 rs4939827 was prevalent in CRC patients (42.6%).
• An elevated risk of CRC was observed in the dominant model (CC/CT+TT), with an Odds Ratio (OR) of 2.781 (95% CI: 0.998-3.456, p=0.113).
• A correlation was found between SMAD7 gene variants and the likelihood of developing colorectal cancer.

Conclusions:

• The SMAD7 gene variant rs4939827 is potentially associated with an increased risk of colorectal cancer.
• This genetic variant may contribute to understanding individual susceptibility to CRC.
• Findings suggest that SNP analysis of SMAD7 could be valuable for early CRC detection.