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并将 DNA 修复基因多态性基因分型作为一种低成本的肺腺癌筛查工具。

and DNA-repair gene polymorphisms genotyping as a low-cost lung adenocarcinoma screening tool.

机构信息

Department of Experimental Oncology, Institute for Oncology and Radiology of Serbia, Belgrade, Serbia

Clinic for Medical Oncology, Institute for Oncology and Radiology of Serbia, Belgrade, Serbia.

出版信息

J Clin Pathol. 2019 Jan;72(1):75-80. doi: 10.1136/jclinpath-2018-205553. Epub 2018 Nov 22.

Abstract

AIM

and DNA repair polymorphisms have been proposed as cancer risk factors. This study evaluated the usability of Arg72Pro single-nucleotide polymorphism, Arg399Gln and G135C as a low-cost lung adenocarcinoma screening tool.

PATIENTS AND METHODS

This case-control study included 78 atients with lung adenocarcinoma and 79 healthy matched controls. , and genotyping was done by PCR followed by restriction length polymorphism. Descriptive analyses included genotype and allelic frequencies and deviations of the frequencies from those expected under Hardy-Weinberg equilibrium were assessed using the χ test. The OR and 95% CIs were calculated as an estimate of relative risk, with significance set at p value <0.05.

RESULTS

The codon 72 Pro allele and the codon 399 Arg allele in a homozygous state were associated with lung adenocarcinoma (p=0.037; OR (95% CI) 2.42 (1.10 to 5.31)), that is, p=0.037; OR (95% CI) 2.16 (1.08 to 4.33), respectively. Also, carriers of the codon 72 Pro allele and the codon 399 ArgArg genotype older than 50 showed an even higher risk of developing lung adenocarcinoma (p=0.03 in both cases).

CONCLUSIONS

The codon 72 Arg allele and codon 399 Gln allele are likely to have a protective effect against lung adenocarcinoma, especially in individuals older than 50 years of age. and genotyping might be a useful low-cost tool for evaluating individual lung cancer risk, leading to earlier detection and management of this disease.

摘要

目的

DNA 修复多态性被认为是癌症的风险因素。本研究评估 Arg72Pro 单核苷酸多态性、Arg399Gln 和 G135C 作为一种低成本肺腺癌筛查工具的可用性。

患者和方法

本病例对照研究纳入了 78 例肺腺癌患者和 79 例健康匹配对照。通过聚合酶链反应(PCR)和限制性长度多态性(RFLP)进行基因型检测。采用 χ 检验评估基因型和等位基因频率以及 Hardy-Weinberg 平衡预期频率的偏差。OR 和 95%CI 作为相对风险的估计值进行计算,以 p 值<0.05 为显著性水平。

结果

Arg72 密码子 Pro 等位基因和 Arg399 密码子纯合状态与肺腺癌相关(p=0.037;OR(95%CI)2.42(1.10 至 5.31)),即 p=0.037;OR(95%CI)2.16(1.08 至 4.33)。此外,携带 Arg72 密码子 Pro 等位基因和 Arg399 ArgArg 基因型且年龄大于 50 岁的个体发生肺腺癌的风险更高(p=0.03,两种情况均如此)。

结论

Arg72 密码子 Arg 等位基因和 Arg399 密码子 Gln 等位基因可能对肺腺癌具有保护作用,尤其是在年龄大于 50 岁的个体中。Arg72 和 Arg399 基因型检测可能是一种有用的低成本工具,用于评估个体的肺癌风险,从而更早地发现和管理这种疾病。

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