PTPN13 rs989902 and CHEK2 rs738722 are associated with esophageal cancer

Ruisha Tu; Dunjing Zhong; Ping Li; Yongyu Li; Zhuang Chen; Feixiang Hu; Guihong Yuan; Zhaowei Chen; Shuyong Yu; Jian Song

doi:10.1080/07853890.2023.2281659

PTPN13 rs989902 and CHEK2 rs738722 are associated with esophageal cancer

Ann Med. 2023;55(2):2281659. doi: 10.1080/07853890.2023.2281659. Epub 2023 Dec 1.

Authors

Ruisha Tu¹, Dunjing Zhong², Ping Li³, Yongyu Li², Zhuang Chen², Feixiang Hu¹, Guihong Yuan², Zhaowei Chen², Shuyong Yu¹, Jian Song^{3

4}

Affiliations

¹ Department of Gastrointestinal Surgery, Hainan Cancer Hospital, Haikou, Hainan, China.
² Department of Gastroenterology, Hainan Cancer Hospital, Haikou, Hainan, China.
³ Department of Digestive Endoscopy Center, Hainan Cancer Hospital, Haikou, Hainan, China.
⁴ Department of Gastroenterology, Southern University of Science and Technology Hospital, Shenzhen, Guangdong, China.

Abstract

Purpose: Individual genetic background can play an essential role in determining the development of esophageal squamous cell carcinoma (ESCC). PTPN13 and CHEK2 play important roles in the pathogenesis of ESCC. This case-control study aimed to analyze the association between gene polymorphisms and ESCC susceptibility.

Methods: DNA was extracted from the peripheral blood of patients. The Agena MassARRAY platform was used for the genotyping. Statistical analysis was conducted using the chi-squared test or Fisher's exact test, logistic regression analysis, and stratification analysis.

Results: The 'G' allele of rs989902 (PTPN13) and the 'T' allele of rs738722 (CHEK2) were both associated with an increased risk of ESCC (rs989902: OR = 1.23, 95% CI = 1.02-1.47, p = 0.028; rs738722: OR = 1.28, 95% CI = 1.06-1.55, p = 0.011). Stratification analysis showed that SNPs (rs989902 and rs738722) were notably correlated with an increased risk of ESCC after stratification for age, sex, smoking, and drinking status. In addition, rs738722 might be associated with lower stage, while rs989902 had a lower risk of metastasis.

Conclusion: Our findings display that PTPN13 rs989902 and CHEK2 rs738722 are associated with an increased risk of ESCC in the Chinese Han population.

Keywords: CHEK2; Esophageal squamous cell carcinoma (ESCC); PTPN13; gene; polymorphisms.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Carcinoma, Squamous Cell* / genetics
Case-Control Studies
Checkpoint Kinase 2 / genetics
China / epidemiology
Esophageal Neoplasms* / genetics
Esophageal Squamous Cell Carcinoma* / genetics
Genetic Predisposition to Disease
Genotype
Humans
Polymorphism, Single Nucleotide
Protein Tyrosine Phosphatase, Non-Receptor Type 13 / genetics

Substances

CHEK2 protein, human
Checkpoint Kinase 2
PTPN13 protein, human
Protein Tyrosine Phosphatase, Non-Receptor Type 13

Grants and funding

This work was supported by the 2020 Hainan Provincial Major Science and Technology Project (grant number: ZDKJ202005) and the specific research fund of The Innovation Platform for Academicians of Hainan Province (grant number: YSPTZX202029).