SMAD7 gene polymorphisms and their influence on patients with colorectal cancer

ABSTRACT

Colorectal cancer (CRC) is a prevalent malignant tumor, and its pathogenesis is still not fully understood. Studies have shown that SMAD7 gene polymorphisms can affect CRC susceptibility, but the results have been inconsistent and require additional confirmation. Our study aimed to evaluate the effect of SMAD7 variants on the risk of CRC in the Chinese Han population. A total of five single nucleotide polymorphisms (SNPs) in SMAD7 were genotyped among 696 CRC patients and 696 healthy participants using the MassARRAY iPLEX platform. SNPs were evaluated for their associations with CRC using logistic regression analysis under multiple genetic models. The false-positive report probability (FPRP) analysis was used to validate the positive findings. Our study indicated that rs11874392 showed an increased association with CRC risk (odds ratio, 1.31; 95% confidence interval, 1.04–1.67; p = 0.024). Stratified analysis showed that rs11874392 might increase the risk of CRC in females (OR = 1.70, p = 0.028), individuals with smoking (OR = 1.87, p = 0.026), and drinking (OR = 1.38, p = 0.027). The rs11874392 was found to be related to an elevated risk of rectal cancer (OR = 1.73, p = 0.003), but not with colon cancer. FPRP analysis demonstrated that all of these associations were statistically significant (FPRP <0.2). Additionally, rs11874392 was the strongest predictive model for CRC. This study provides evidence that the SMAD7 rs11874392 is related to an increased susceptibility to CRC.

KEYWORDS:

• Colorectal cancer
• SMAD7
• polymorphisms
• association study

Acknowledgements

The authors thank all participants and volunteers in this study.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Author contributions

Yongsheng Wu contributed to design the study and write the manuscript. Jue Xu, Biaobin Tan, Ting Yi, and Su Liu contributed to recruit and collect study samples. Guang Yang and Kai Li contributed to analyze the data. Xinhan Zhao contributed to conceive the study and revise manuscript. All authors read and approved the final manuscript.

Consent to publish statement

All authors agree to publish this manuscript in this journal.

Data availability statement

Participant informed consent statements did not seek consent for data to be made publicly available; however, data will be made available to individual researchers upon reasonable request. In this case, please contact the corresponding author.

Ethics approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of The People’s Hospital of XiangXiang and the 1964 Helsinki declaration.

Informed consent from participants

Informed written consent was obtained from each participant before the research.

Supplementary material

Supplemental data for this article can be accessed online at https://doi.org/10.1080/15384101.2023.2296210.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.