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MDM2 基因 SNP309T→G 和 40-bp Del1518 与乳腺癌病例对照研究及 MDM2 多态性的系统评价

A case-control study on the SNP309T → G and 40-bp Del1518 of the MDM2 gene and a systematic review for MDM2 polymorphisms in the patients with breast cancer.

机构信息

Medical Biology Research Center, Health Technology Institute, Kermanshah University of Medical Sciences, Kermanshah, Iran.

Zagros Bioidea Co, Razi University Incubator, Kermanshah, Iran.

出版信息

J Clin Lab Anal. 2020 Dec;34(12):e23529. doi: 10.1002/jcla.23529. Epub 2020 Sep 20.

DOI:10.1002/jcla.23529
PMID:32951271
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7755803/
Abstract

OBJECTIVE

The current research was conducted to study the association between the SNP309 and del1518 polymorphisms with the breast cancer in the patients with the Kurdish ethnic background from western Iran. Also, a systematic review of the relevant case-control studies on the MDM2 polymorphisms in the patients with breast cancer was performed.

METHODOLOGY

Two mL of peripheral blood was taken from 100 patients with breast cancer and 100 healthy individuals. The frequencies of MDM2 SNP309 and del1518 genotypes and alleles were determined using the PCR-RFLP and PCR methods, respectively.

RESULTS

The frequency of the TT, TG, and GG of MDM2-SNP309 genotypes in the patients was obtained as 23%, 52%, and 25%, and they were equal to 22%, 40%, and 38% in the control group, respectively. Also, considering the MDM2-del1518 polymorphism, the frequencies of ins/ins, ins/del, and del/del genotypes were equal to 52%, 41%, and 7% in the breast cancer group and they were equal to 62, 30, and 8% in the control group, respectively. Analysis of the results indicated that the GG genotype plays a protective role for the breast cancer in the recessive model (GG vs TT + TG) of SNP309 (χ  = 3.916, P = .048, and OR = 0.54).

CONCLUSION

Our findings revealed that the GG genotype of MDM2-SNP309 can play a protective role in the breast cancer disease. Also, our systematic review indicated that the SNP309, SNP285, and del1518 of MDM2 gene in different populations mostly did not have a significant association with the risk of breast cancer.

摘要

目的

本研究旨在探讨伊朗西部库尔德族人群中 SNP309 和 del1518 多态性与乳腺癌的相关性。同时,对乳腺癌患者 MDM2 多态性的相关病例对照研究进行了系统评价。

方法

从 100 例乳腺癌患者和 100 例健康个体中抽取 2ml 外周血。采用 PCR-RFLP 和 PCR 法分别检测 MDM2 SNP309 和 del1518 基因型和等位基因的频率。

结果

乳腺癌患者 MDM2-SNP309 基因型 TT、TG 和 GG 的频率分别为 23%、52%和 25%,对照组分别为 22%、40%和 38%。此外,考虑到 MDM2-del1518 多态性,乳腺癌组 ins/ins、ins/del 和 del/del 基因型的频率分别为 52%、41%和 7%,对照组分别为 62%、30%和 8%。结果分析表明,在 SNP309 的隐性模型(GG vs TT + TG)中,GG 基因型对乳腺癌具有保护作用(χ ²=3.916,P=0.048,OR=0.54)。

结论

我们的研究结果表明,MDM2-SNP309 的 GG 基因型可能对乳腺癌具有保护作用。此外,我们的系统评价表明,不同人群中 MDM2 基因的 SNP309、SNP285 和 del1518 与乳腺癌的风险大多没有显著相关性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be97/7755803/0832d8c51fb9/JCLA-34-e23529-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be97/7755803/87f60ec6e0e9/JCLA-34-e23529-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be97/7755803/29f776e2e1d9/JCLA-34-e23529-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be97/7755803/343a23bba707/JCLA-34-e23529-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be97/7755803/0832d8c51fb9/JCLA-34-e23529-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be97/7755803/87f60ec6e0e9/JCLA-34-e23529-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be97/7755803/29f776e2e1d9/JCLA-34-e23529-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be97/7755803/343a23bba707/JCLA-34-e23529-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be97/7755803/0832d8c51fb9/JCLA-34-e23529-g004.jpg

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