Institute of Zoology, Bahauddin Zakariya University, Multan, 60800, Pakistan.
Department of Pathology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, 60002, Taiwan.
Sci Rep. 2024 Sep 3;14(1):20464. doi: 10.1038/s41598-024-70381-y.
Colorectal cancer (CRC) is among the most prevalent cancers with a high mortality rate. Both genetic and environmental factors contribute to CRC development. This study aimed to assess the association of single nucleotide polymorphisms (SNPs) in the fatty acid binding protein-2 (rs1799883), Cytochrome P450 2E1 (rs3813865), TP53 (rs1042522), and Murine double minute 2 (rs1042522) genes with CRC. A cross-sectional case-control study was conducted at the Institute of Molecular Biology and Biotechnology from May 2020 to March 2021, involving CRC patients (N = 100) and controls (N = 100) recruited from the Multan district in Pakistan. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) were employed to investigate the studied SNPs. The association of SNPs in all genes with CRC was examined either individually or in various combinations. Genotypes at three SNPs, rs1799883 in FABP2, rs3813865 in CYP2E1, and rs1042522 in TP53, were found to be associated with the development of CRC, while rs1042522 in MDM2 was not. Patients who were married, smoked, lacked exercise habits or had a family history of CRC were at a greater risk of acquiring the disease. FABP2 gene rs1799883, CYP2E1 gene rs3813865, and TP53 gene rs1042522 polymorphisms are significant in the development of CRC in Pakistani participants.
结直肠癌(CRC)是最常见的癌症之一,死亡率较高。遗传和环境因素都促成了结直肠癌的发展。本研究旨在评估脂肪酸结合蛋白-2(rs1799883)、细胞色素 P450 2E1(rs3813865)、TP53(rs1042522)和双微体 2(rs1042522)基因中单核苷酸多态性(SNP)与 CRC 的相关性。2020 年 5 月至 2021 年 3 月,在分子生物学和生物技术研究所进行了一项病例对照研究,纳入了来自巴基斯坦木尔坦地区的 CRC 患者(N=100)和对照者(N=100)。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和四引物扩增阻滞突变系统-聚合酶链反应(ARMS-PCR)检测研究的 SNP。单独或组合研究了所有基因中的 SNP 与 CRC 的关联。FABP2 基因中的 rs1799883、CYP2E1 基因中的 rs3813865 和 TP53 基因中的 rs1042522 三种 SNP 基因型与 CRC 的发生有关,而 MDM2 基因中的 rs1042522 则没有。已婚、吸烟、缺乏运动习惯或有 CRC 家族史的患者患该病的风险更大。FABP2 基因 rs1799883、CYP2E1 基因 rs3813865 和 TP53 基因 rs1042522 多态性在巴基斯坦参与者 CRC 的发生中具有显著意义。