PTPN13 rs989902 and CHEK2 rs738722 are associated with esophageal cancer

• Published in: Annals of medicine (Helsinki) Vol. 55; no. 2; p. 2281659
• Main Authors: Tu, Ruisha, Zhong, Dunjing, Li, Ping, Li, Yongyu, Chen, Zhuang, Hu, Feixiang, Yuan, Guihong, Chen, Zhaowei, Yu, Shuyong, Song, Jian
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis Group 2023
• Subjects: Carcinoma, Squamous Cell - genetics; Case-Control Studies; Checkpoint Kinase 2 - genetics; CHEK2; China - epidemiology; Esophageal Neoplasms - genetics; Esophageal squamous cell carcinoma (ESCC); Esophageal Squamous Cell Carcinoma - genetics; gene; Genetic Predisposition to Disease; Genotype; Humans; Polymorphism, Single Nucleotide; polymorphisms; Protein Tyrosine Phosphatase, Non-Receptor Type 13 - genetics; PTPN13; China; PTPN13; gene; polymorphisms; CHEK2; Esophageal squamous cell carcinoma (ESCC)
• ISSN: 0785-3890; 1365-2060
• DOI: 10.1080/07853890.2023.2281659

Individual genetic background can play an essential role in determining the development of esophageal squamous cell carcinoma (ESCC). and play important roles in the pathogenesis of ESCC. This case-control study aimed to analyze the association between gene polymorphisms and ESCC susceptibility. 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. The 'G' allele of rs989902 ( ) and the 'T' allele of rs738722 ( ) were both associated with an increased risk of ESCC (rs989902: OR = 1.23, 95% CI = 1.02-1.47,  = 0.028; rs738722: OR = 1.28, 95% CI = 1.06-1.55,  = 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. Our findings display that rs989902 and rs738722 are associated with an increased risk of ESCC in the Chinese Han population.