硫酸软骨素蛋白聚糖4假基因12遗传变异对结直肠癌风险的影响：一项病例对照研究。

Impact of Chondroitin Sulfate Proteoglycan 4 Pseudogene 12 Genetic Variants on Colorectal Cancer Risk: A Case-Control Study.

作者信息

Zhou Xianlei, Guo Liwen, Yang Zhenbang, Xu Hongxue, Zhang Zhi, Zhang Xuemei

机构信息

School of Public Health, North China University of Science and Technology, Tangshan, China.

Hebei Key Laboratory of Occupational Health and Safety for Coal Industry, Tangshan, China.

出版信息

DNA Cell Biol. 2024 Dec;43(12):596-604. doi: 10.1089/dna.2024.0174. Epub 2024 Oct 18.

DOI:10.1089/dna.2024.0174

PMID:39421940

Abstract

This study aims to investigate the correlation between the chondroitin sulfate proteoglycan 4 pseudogene 12 () polymorphism and the risk of colorectal cancer (CRC). This case-control study involved 850 patients with CRC and 850 health controls. The genotypes of (rs2880765, rs6496932, and rs8040855) were determined by the TaqMan-MGB probe method. Logistic regression model was employed to evaluate the association of single-nucleotide polymorphisms (SNPs) with the risk of CRC by calculating the odds ratio (OR) and 95% confidence interval (CI). The exhibited lower expression in CRC tissues. Our data showed that the rs6496932 variant increased CRC risk (CA vs. CC: = 0.006; CA + AA vs. CC: = 0.005). In contrast, the rs8040855 variant reduced the risk of CRC (CG vs. CC: < 0.001; CG + GG vs. CC: < 0.001). Stratification by gender and age revealed that the rs8040855 variant decreased CRC risk; however, the rs6496932 variant increased CRC risk among males (CA vs. CC: = 0.024; CA + AA vs. CC: = 0.014) and younger individuals (CA vs. CC: = 0.004; CA + AA vs. CC: = 0.010). When stratified by smoking and drinking status, the rs8040855 variant decreased CRC risk among nonsmokers (CG vs. CC: < 0.001; CG + GG vs. CC: < 0.001) and nondrinkers (CA vs. CC: = 0.002; CA + AA vs. CC: = 0.004). The rs6496932 variant increased CRC risk among nonsmokers (CA vs. CC: = 0.016; CA + AA vs. CC: = 0.036) and nondrinkers (CG vs. CC: < 0.001; CG + GG vs. CC: < 0.001). Haplotype analysis showed that the TCG haplotype reduced the risk of CRC compared with the reference haplotype ( ACC) (OR = 0.46, 95% CI = 0.26-0.82, = 0.049). These findings highlight the potential of these genetic variants as biomarkers for CRC susceptibility, offering insights into personalized prevention strategies.

摘要

本研究旨在探讨硫酸软骨素蛋白聚糖4假基因12（）多态性与结直肠癌（CRC）风险之间的相关性。这项病例对照研究纳入了850例CRC患者和850名健康对照者。通过TaqMan-MGB探针法测定（rs2880765、rs6496932和rs8040855）的基因型。采用逻辑回归模型，通过计算比值比（OR）和95%置信区间（CI）来评估单核苷酸多态性（SNP）与CRC风险的关联。在CRC组织中表达较低。我们的数据显示，rs6496932变异增加了CRC风险（CA与CC相比： = 0.006；CA + AA与CC相比： = 0.005）。相反，rs8040855变异降低了CRC风险（CG与CC相比： < 0.001；CG + GG与CC相比： < 0.001）。按性别和年龄分层显示，rs8040855变异降低了CRC风险；然而，rs6496932变异在男性（CA与CC相比： = 0.024；CA + AA与CC相比： = 0.014）和较年轻个体（CA与CC相比： = 0.004；CA + AA与CC相比： = 0.010）中增加了CRC风险。按吸烟和饮酒状况分层时，rs8040855变异在不吸烟者（CG与CC相比： < 0.001；CG + GG与CC相比： < 0.001）和不饮酒者（CA与CC相比： = 0.002；CA + AA与CC相比： = 0.004）中降低了CRC风险。rs6496932变异在不吸烟者（CA与CC相比： = 0.016；CA + AA与CC相比： = 0.036）和不饮酒者（CG与CC相比： < 0.001；CG + GG与CC相比： < 0.001）中增加了CRC风险。单倍型分析显示，与参考单倍型（ACC）相比，TCG单倍型降低了CRC风险（OR = 0.46，95% CI = 0.26 - 0.82， = 0.049）。这些发现突出了这些基因变异作为CRC易感性生物标志物的潜力，为个性化预防策略提供了见解。