Background: This study aimed to investigate the polymorphic genotypes ofMDM2rs937282, rs937283, rs2279744, and rs769412, as well as the combined effects ofMDM2genotypes and environmental factors on RCC susceptibility. Methods: A total of 135 RCC patients and 590 controls were recruited forMDM2genotyping using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Quantitative PCR was performed to assess MDM2 mRNA levels among 30 healthy individuals and 22 RCC patients. Results:MDM2rs2279744, but not other polymorphisms, was significantly associated with an increased RCC risk (p= 0.0133). TheMDM2rs2279744 G allele was identified as a risk factor for RCC (odds ratio [OR] = 1.49, 95% confidence interval [CI] = 1.14–1.96,p= 0.0047). Among smokers (p= 0.0070), alcohol drinkers (p= 0.0233), individuals with hypertension (p= 0.0041), diabetes (p= 0.0225), and those with a family history of cancer (p= 0.0020), theMDM2rs2279744 GT and GG genotypes exhibited increased RCC risks. However, this risk effect was not observed in non-smokers, non-drinkers, or individuals without hypertension, diabetes, or a family cancer history (allp> 0.05). Moreover, MDM2 mRNA levels were significantly higher in RCC patients compared to controls and varied among the rs2279744 genotypes, with GG genotype exhibiting the highest expression levels among both RCC patients and controls. Conclusions: This study highlights the association betweenMDM2rs2279744 genotypes and RCC risk, suggesting that genotype-associated MDM2 mRNA levels could contribute to early RCC detection. Further studies are warranted to elucidate the detailed mechanisms underlying the role ofMDM2in RCC development.
背景：本研究旨在探讨MDM2基因rs937282、rs937283、rs2279744和rs769412位点的多态性基因型，以及MDM2基因型与环境因素对肾细胞癌（RCC）易感性的联合影响。方法：采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对135例RCC患者和590例对照者进行MDM2基因分型。通过定量PCR检测30名健康个体和22例RCC患者的MDM2 mRNA表达水平。结果：MDM2 rs2279744位点（而非其他多态性位点）与RCC风险增加显著相关（p=0.0133）。MDM2 rs2279744 G等位基因被确定为RCC的危险因素（比值比[OR]=1.49，95%置信区间[CI]=1.14–1.96，p=0.0047）。在吸烟者（p=0.0070）、饮酒者（p=0.0233）、高血压患者（p=0.0041）、糖尿病患者（p=0.0225）以及有癌症家族史的个体中（p=0.0020），MDM2 rs2279744 GT和GG基因型表现出更高的RCC风险。然而，在非吸烟者、非饮酒者、无高血压、糖尿病或癌症家族史的个体中未观察到这种风险效应（所有p>0.05）。此外，与对照组相比，RCC患者的MDM2 mRNA水平显著升高，且在不同rs2279744基因型间存在差异，其中GG基因型在RCC患者和对照组中均表现出最高的表达水平。结论：本研究揭示了MDM2 rs2279744基因型与RCC风险之间的关联，提示基因型相关的MDM2 mRNA水平可能有助于RCC的早期检测。未来需要进一步研究以阐明MDM2在RCC发生发展中的具体作用机制。
肿瘤(癌症)患者之家