Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
Nucleosides Nucleotides Nucleic Acids. 2023;42(7):563-570. doi: 10.1080/15257770.2023.2169934. Epub 2023 Jan 24.
gene is implicated in cell differentiation, development process, repair, apoptosis, senescence, migration, and tumorigenesis. Somatic alterations and polymorphisms may interfere in the function of CDKN1A, and this could affect the individual susceptibility to colorectal cancer (CRC). Here in, we evaluated the importance of single nucleotide polymorphic variants in codon 31 of (rs1801270: C > A) for the development of colorectal cancer in an Iranian population. A total of 150 CRC patients and 150 healthy controls were enrolled in this study. Genomic DNA was extracted from peripheral blood specimens. Genotypes were determined using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) assay. In CRC patients, the genotype frequencies detected were 90%, 8.0% and 2.0%2 for CC, AC and AA genotypes while the genotype frequencies in control group were 78%, 20.7% and 1.35% 1.35% for CC, AC and AA genotype, respectively. There were statistically significant differences in the distribution of rs1801270 genotypes and allele frequencies between colorectal cancer patients and healthy controls ( = 0.021). Also, results indicated a significant negative association between AC genotype and risk of colorectal cancer occurrence. (Odds ratio (OR)=0.357; 95% confidence interval (CI)=0.168-0.760, = 0.007). Our data suggest that the AC genotype may have a protective role in the development of CRC in an Iranian population.
基因参与细胞分化、发育过程、修复、凋亡、衰老、迁移和肿瘤发生。体细胞改变和多态性可能干扰 CDKN1A 的功能,这可能影响个体对结直肠癌 (CRC) 的易感性。在这里,我们评估了 (rs1801270: C > A) 密码子 31 中的单核苷酸多态性变体对伊朗人群结直肠癌发展的重要性。本研究共纳入 150 例 CRC 患者和 150 例健康对照者。从外周血标本中提取基因组 DNA。使用聚合酶链反应-限制性片段长度多态性 (PCR-RFLP) 分析确定基因型。在 CRC 患者中,检测到的基因型频率分别为 90%、8.0%和 2.0%2 CC、AC 和 AA 基因型,而对照组的基因型频率分别为 78%、20.7%和 1.35%1.35% CC、AC 和 AA 基因型。CRC 患者和健康对照组 rs1801270 基因型和等位基因频率的分布存在统计学差异 ( = 0.021)。此外,结果表明 AC 基因型与结直肠癌发生风险呈显著负相关。(比值比 (OR)=0.357;95%置信区间 (CI)=0.168-0.760, = 0.007)。我们的数据表明,AC 基因型可能在伊朗人群 CRC 的发生发展中具有保护作用。