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OGG1基因rs1052133多态性与慢性粒细胞白血病的遗传易感性

OGG1 rs1052133 Polymorphism and Genetic Susceptibility to Chronic Myelogenous Leukaemia.

作者信息

Hassan Fathelrahman M

机构信息

Department of Clinical laboratory Science, College of Applied Medical Science, Imam Abdulrahman, Bin Faisal University, Saudi Arabia. Email:

出版信息

Asian Pac J Cancer Prev. 2019 Mar 26;20(3):925-928. doi: 10.31557/APJCP.2019.20.3.925.

DOI:10.31557/APJCP.2019.20.3.925
PMID:30912416
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6825771/
Abstract

Background: In some cancer cells, the OGG1 gene is somatically mutated and highly populated. This study was conducted to examine whether OGG1 rs1052133 polymorphism is associated with the genetic background of chronic myelogenous leukaemia (CML) in Sudan. Methods: A total of 332 CML patients and 70 healthy controls were included in this study. Overall, the genotypes (P=0.0000) and allele (C vs. G, P=0.0007) differed considerably in the frequencies of OGG1 rs1052133 polymorphism between CML patients and controls. Our study is the first to evaluate the association of polymorphism with CML risk with OGG1 rs1052133. Results: A statistically significant association was observed between the genotype distribution of OGG1 rs1052133 polymorphism and CML (P=0.0000) patients. A similar result was also observed in the allele distribution (C vs. G, P=0.0007) compared with healthy controls when compared OGG1 rs1052133 genotypes with CML stages. Results: Genotype and allele frequencies of OGG1 rs1052133 among CML patients. A statistically significant association was observed between the genotype distribution of the OGG1 rs1052133 polymorphism and CML patients (P=0.0000). A similar result was also observed in the allele distribution (C vs. G, P=0.0007) compared with healthy controls with stages of CML in OGG1 rs1052133 genotypes. Conclusion: The results suggest that single nucleotide polymorphism in the gene involved in the restoration of DNA base excision (OGG1 rs1052133) can play a key role in the risk of appearance of CML. To clarify the role of OGG1 in the genetic basis of CML, further case control with larger sample sizes and fine-mapping is required.

摘要

背景

在一些癌细胞中,OGG1基因发生体细胞突变且高度富集。本研究旨在探讨OGG1 rs1052133多态性是否与苏丹慢性粒细胞白血病(CML)的遗传背景相关。方法:本研究共纳入332例CML患者和70例健康对照。总体而言,CML患者和对照之间OGG1 rs1052133多态性的基因型频率(P = 0.0000)和等位基因频率(C与G,P = 0.0007)存在显著差异。我们的研究首次评估了OGG1 rs1052133多态性与CML风险的关联。结果:观察到OGG1 rs1052133多态性的基因型分布与CML患者之间存在统计学显著关联(P = 0.0000)。将OGG1 rs1052133基因型与CML分期进行比较时,与健康对照相比,等位基因分布(C与G,P = 0.0007)也观察到类似结果。结果:CML患者中OGG1 rs1052133的基因型和等位基因频率。观察到OGG1 rs1052133多态性的基因型分布与CML患者之间存在统计学显著关联(P = 0.0000)。在将OGG1 rs1052133基因型与CML分期的健康对照相比时,等位基因分布(C与G,P = 0.0007)也观察到类似结果。结论:结果表明,参与DNA碱基切除修复的基因中的单核苷酸多态性(OGG1 rs1052133)可能在CML发生风险中起关键作用。为阐明OGG1在CML遗传基础中的作用,需要进一步进行更大样本量的病例对照研究和精细定位。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7057/6825771/a18a4983ff5f/APJCP-20-925-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7057/6825771/5811f5db88b6/APJCP-20-925-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7057/6825771/a18a4983ff5f/APJCP-20-925-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7057/6825771/5811f5db88b6/APJCP-20-925-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7057/6825771/a18a4983ff5f/APJCP-20-925-g002.jpg

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