Research Article

Five genes identified as prognostic markers for colorectal cancer through the integration of genome-wide association study and expression quantitative trait loci data

https://orcid.org/0000-0002-9561-4309

Department of Pharmacy, Huashan Hospital, Fudan University, Shanghai, 200040, China

‡Authors contributed equally

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Wenjie Huang‡

Department of Pharmacy, Huashan Hospital, Fudan University, Shanghai, 200040, China

‡Authors contributed equally

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Wanjie Niu

Department of Pharmacy, Huashan Hospital, Fudan University, Shanghai, 200040, China

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Huiying Yang

Department of Pharmacy, Huashan Hospital, Fudan University, Shanghai, 200040, China

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Yingyi Zheng

Department of Pharmacy, Huashan Hospital, Fudan University, Shanghai, 200040, China

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Xuan Gao

*Author for correspondence: Tel.: +86 216 493 1713;

E-mail Address: xuangao@fudan.edu.cn

Outpatient and Emergency Management Office, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China

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Xiaoyan Qiu

**Author for correspondence: Tel.: +86 215 288 8712;

E-mail Address: xyqiu@fudan.edu.cn

https://orcid.org/0000-0002-6806-6749

Department of Pharmacy, Huashan Hospital, Fudan University, Shanghai, 200040, China

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Published Online:21 Feb 2024https://doi.org/10.2217/pme-2023-0103

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Abstract

Background: Colorectal cancer (CRC) is a prominent form of cancer globally, ranking second in terms of prevalence and serving as a leading cause of cancer-related deaths, but the underlying biological interpretation remains largely unknown. Methods: We used the summary data-based Mendelian randomization method to integrate CRC genome-wide association studies (n_case = 7062; n_control = 195,745) and expression quantitative trait loci summary data in peripheral whole blood (Consortium for Architecture of Gene Expression: n = 2765; Genotype-Tissue Expression [v8]: n = 755) and colon tissue (colon-transverse: n = 406; colon-sigmoid: n = 373) and identified related genes. Results: Genes ABTB1, CYP21A2, NLRP1, PHKG1 and PIP5K1C have emerged as significant prognostic markers for CRC patient survival. Functional analysis revealed their involvement in cancer cell migration and invasion mechanisms, providing valuable insights for the development of future anti-CRC drugs. Conclusion: We successfully identified five CRC risk genes, providing new insights and research directions for the effective mechanisms of CRC.

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Received 14 September 2023

Accepted 30 January 2024

Published online 21 February 2024

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Supplementary data

To view the supplementary data that accompany this paper please visit the journal website at: www.futuremedicine.com/doi/suppl/10.2217/pme-2023-0103

Author contributions

X Qiu designed the study. C Zhang and W Huang finished the main work and wrote the manuscript. W Niu and H Yang revised and polished the manuscript. W Niu and Y Zheng performed the statistical analysis of the data. All authors reviewed the manuscript.

Acknowledgments

We thank all the participants of this study for their contributions.

Financial disclosure

This work was supported by the Shanghai ‘Rising Stars of Medical Talent’ Youth Development Clinical Pharmacist Program (No. 2018-1), Shanghai Science and Technology Innovation Program 2019 Key Project in Soft Science Research Field (No. 19692107000) and the 2019 Key Clinical Program of Clinical Pharmacy (No. 451 shslczdzk06502). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Competing interests disclosure

The authors have no competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Writing disclosure

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The data from genome-wide association study and genotype-tissue expression databases are available for free to the public, and this study strictly followed access policies and publication guidelines. I confirm that all the research meets the ethical guidelines, including adherence to the legal requirements of the study country.

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