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2
Association of , and Polymorphism in with Chronic Periodontal Disease in a Pakistani Population.巴基斯坦人群中 、 与慢性牙周病的关联及 多态性。
Genes (Basel). 2023 Feb 10;14(2):455. doi: 10.3390/genes14020455.
3
An investigation of DNA damage and DNA repair in chemical carcinogenesis triggered by small-molecule xenobiotics and in cancer: Thirty years with the comet assay.化学致癌物引发的小分子外源化学物和癌症中的 DNA 损伤和 DNA 修复研究:彗星试验 30 年。
Mutat Res Genet Toxicol Environ Mutagen. 2023 Jan;885:503564. doi: 10.1016/j.mrgentox.2022.503564. Epub 2022 Nov 23.
4
Association of GSTM1 and GSTT1 genes insertion/deletion polymorphism with colorectal cancer risk: A case-control study of Khyber Pakhtunkhwa population, Pakistan.谷胱甘肽硫转移酶 M1 和 T1 基因插入/缺失多态性与结直肠癌风险的关联:巴基斯坦开伯尔-普赫图赫瓦省人群的病例对照研究。
J Pak Med Assoc. 2022 Mar;72(3):457-463. doi: 10.47391/JPMA.1393.
5
Genetic analysis of colorectal carcinoma using high throughput single nucleotide polymorphism genotyping technique within the population of Jammu and Kashmir.利用高通量单核苷酸多态性基因分型技术在查谟和克什米尔人群中进行结直肠癌的遗传分析。
Mol Biol Rep. 2021 Aug;48(8):5889-5895. doi: 10.1007/s11033-021-06583-8. Epub 2021 Jul 28.
6
Global colorectal cancer burden in 2020 and projections to 2040.2020年全球结直肠癌负担及到2040年的预测。
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Factors affecting delay in diagnosis of colorectal cancer: A cross-sectional study from a tertiary care hospital of Karachi, Pakistan.影响结直肠癌诊断延迟的因素:来自巴基斯坦卡拉奇一家三级护理医院的横断面研究。
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9
Genetic polymorphisms of TP53 (rs1042522) and MDM2 (rs2279744) and colorectal cancer risk: An updated meta-analysis based on 59 case-control studies.TP53(rs1042522)和 MDM2(rs2279744)基因多态性与结直肠癌风险的关系:基于 59 项病例对照研究的更新荟萃分析。
Gene. 2020 Apr 15;734:144391. doi: 10.1016/j.gene.2020.144391. Epub 2020 Jan 27.
10
p53 protein expression affected by TP53 polymorphism is associated with the biological behavior and prognosis of low rectal cancer.受TP53基因多态性影响的p53蛋白表达与低位直肠癌的生物学行为和预后相关。
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FABP2、CYP2E1 和 TP53 基因中的遗传多态性与结直肠癌易感性可能相关。

Genetic polymorphisms in FABP2, CYP2E1, and TP53 genes are potentially associated with colorectal cancer susceptibility.

机构信息

Institute of Zoology, Bahauddin Zakariya University, Multan, 60800, Pakistan.

Department of Pathology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, 60002, Taiwan.

出版信息

Sci Rep. 2024 Sep 3;14(1):20464. doi: 10.1038/s41598-024-70381-y.

DOI:10.1038/s41598-024-70381-y
PMID:39242607
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11379967/
Abstract

Colorectal cancer (CRC) is among the most prevalent cancers with a high mortality rate. Both genetic and environmental factors contribute to CRC development. This study aimed to assess the association of single nucleotide polymorphisms (SNPs) in the fatty acid binding protein-2 (rs1799883), Cytochrome P450 2E1 (rs3813865), TP53 (rs1042522), and Murine double minute 2 (rs1042522) genes with CRC. A cross-sectional case-control study was conducted at the Institute of Molecular Biology and Biotechnology from May 2020 to March 2021, involving CRC patients (N = 100) and controls (N = 100) recruited from the Multan district in Pakistan. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) were employed to investigate the studied SNPs. The association of SNPs in all genes with CRC was examined either individually or in various combinations. Genotypes at three SNPs, rs1799883 in FABP2, rs3813865 in CYP2E1, and rs1042522 in TP53, were found to be associated with the development of CRC, while rs1042522 in MDM2 was not. Patients who were married, smoked, lacked exercise habits or had a family history of CRC were at a greater risk of acquiring the disease. FABP2 gene rs1799883, CYP2E1 gene rs3813865, and TP53 gene rs1042522 polymorphisms are significant in the development of CRC in Pakistani participants.

摘要

结直肠癌(CRC)是最常见的癌症之一,死亡率较高。遗传和环境因素都促成了结直肠癌的发展。本研究旨在评估脂肪酸结合蛋白-2(rs1799883)、细胞色素 P450 2E1(rs3813865)、TP53(rs1042522)和双微体 2(rs1042522)基因中单核苷酸多态性(SNP)与 CRC 的相关性。2020 年 5 月至 2021 年 3 月,在分子生物学和生物技术研究所进行了一项病例对照研究,纳入了来自巴基斯坦木尔坦地区的 CRC 患者(N=100)和对照者(N=100)。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和四引物扩增阻滞突变系统-聚合酶链反应(ARMS-PCR)检测研究的 SNP。单独或组合研究了所有基因中的 SNP 与 CRC 的关联。FABP2 基因中的 rs1799883、CYP2E1 基因中的 rs3813865 和 TP53 基因中的 rs1042522 三种 SNP 基因型与 CRC 的发生有关,而 MDM2 基因中的 rs1042522 则没有。已婚、吸烟、缺乏运动习惯或有 CRC 家族史的患者患该病的风险更大。FABP2 基因 rs1799883、CYP2E1 基因 rs3813865 和 TP53 基因 rs1042522 多态性在巴基斯坦参与者 CRC 的发生中具有显著意义。