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埃及人群肝癌的遗传学与生物化学研究。

Genetic and biochemical studies of hepatic carcinoma in the Egyptian population.

作者信息

Elkhoudary Amany F, Elmougy Rehab, Elsaid Afaf, Wahba Yahya, Abdel-Aziz Abdel-Aziz F

机构信息

Department of Biochemistry, Faculty of Science, Mansoura University, Mansoura, Egypt.

Genetics Unit, Faculty of Medicine, Children Hospital, Mansoura University, Mansoura, Egypt.

出版信息

J Res Med Sci. 2021 Aug 30;26:62. doi: 10.4103/jrms.JRMS_846_17. eCollection 2021.

DOI:10.4103/jrms.JRMS_846_17
PMID:34729070
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8506241/
Abstract

BACKGROUND

Hepatocellular carcinoma (HCC), a deadly malignancy of the liver, is considered the third leading reason behind cancer deaths. It is more frequent in men than in women of ages above 50. Liver disease, leading to liver cirrhosis (LC), is mostly caused by alcoholism abuse, reaction diseases of the liver, or viral hepatitis B or C infection. Interleukin-6 (IL-6) is considered an effective pro-inflammatory cytokine, which plays a crucial role in the host defense mechanism. Its level is higher in HCC patients than in LC cases, indicating that tumor cells increase the production of cytokines. The X-ray repair cross-complementing group 1 (XRCC1) gene is a major DNA repair gene. It acts as a scaffold of various activities that are concerned in the repairing method by interacting with components of base excision repair. This study aims to measure the serum concentrations of IL6 and C-reactive protein (CRP) and investigate whether XRCC1 Arg194Trp and Arg399Gln polymorphisms are related to HCC disease.

MATERIALS AND METHODS

Whole-blood DNA was extracted from 123 HCC patients and 123 healthy volunteers. Tetra-primer amplification refractory mutation system was performed in the detection of XRCC1 Arg399Gln and Arg194Trp polymorphisms.

RESULTS

Serum concentration levels of IL-6 and CRP are significantly higher in patients with HCC than in control subjects. The allelic and genotype frequency distributions of XRCC1 (Arg399Gln and Arg194Trp) are significantly increased in HCC cases compared to healthy volunteers.

CONCLUSION

Arg/Gln, Arg/Trp, Gln/Gln, and Trp/Trp genotypes are associated with higher risk HCC than the Arg/Arg genotype.

摘要

背景

肝细胞癌(HCC)是一种致命的肝脏恶性肿瘤,被认为是癌症死亡的第三大主要原因。在50岁以上人群中,男性比女性更易患此病。导致肝硬化(LC)的肝病主要由酗酒、肝脏反应性疾病或乙型或丙型病毒性肝炎感染引起。白细胞介素-6(IL-6)被认为是一种有效的促炎细胞因子,在宿主防御机制中起关键作用。其在HCC患者中的水平高于LC患者,表明肿瘤细胞增加了细胞因子的产生。X射线修复交叉互补组1(XRCC1)基因是一种主要的DNA修复基因。它通过与碱基切除修复的成分相互作用,作为修复过程中各种相关活动的支架。本研究旨在测量IL-6和C反应蛋白(CRP)的血清浓度,并调查XRCC1基因的Arg194Trp和Arg399Gln多态性是否与HCC疾病相关。

材料与方法

从123例HCC患者和123名健康志愿者中提取全血DNA。采用四引物扩增阻滞突变系统检测XRCC1基因的Arg399Gln和Arg194Trp多态性。

结果

HCC患者血清中IL-6和CRP的浓度水平显著高于对照组。与健康志愿者相比,HCC病例中XRCC1基因(Arg399Gln和Arg194Trp)的等位基因和基因型频率分布显著增加。

结论

与Arg/Arg基因型相比,Arg/Gln、Arg/Trp、Gln/Gln和Trp/Trp基因型与HCC的高风险相关。

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本文引用的文献

1
C-Reactive Protein as a Prognostic Marker in Patients with Hepatocellular Carcinoma.C反应蛋白作为肝细胞癌患者的预后标志物
Hepatogastroenterology. 2015 Jun;62(140):966-70.
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IL-6 as a keystone cytokine in health and disease.IL-6 作为健康与疾病中的关键细胞因子。
Nat Immunol. 2015 May;16(5):448-57. doi: 10.1038/ni.3153.
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The Indian National Association for Study of the Liver (INASL) Consensus on Prevention, Diagnosis and Management of Hepatocellular Carcinoma in India: The Puri Recommendations.印度肝脏研究国家协会(INASL)关于印度肝细胞癌预防、诊断和管理的共识:普里建议
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DNA repair gene XRCC1 Arg194Trp polymorphism and susceptibility to hepatocellular carcinoma: A meta-analysis.DNA修复基因XRCC1 Arg194Trp多态性与肝细胞癌易感性:一项荟萃分析。
Oncol Lett. 2014 Oct;8(4):1725-1730. doi: 10.3892/ol.2014.2351. Epub 2014 Jul 15.
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XRCC1 Arg399Gln and Arg194Trp polymorphisms and risk of systemic lupus erythematosus in an Iranian population: a pilot study.伊朗人群中XRCC1基因Arg399Gln和Arg194Trp多态性与系统性红斑狼疮风险:一项初步研究
Biomed Res Int. 2014;2014:492956. doi: 10.1155/2014/492956. Epub 2014 May 26.
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Involvement of DNA damage response pathways in hepatocellular carcinoma.DNA损伤反应通路在肝细胞癌中的作用
Biomed Res Int. 2014;2014:153867. doi: 10.1155/2014/153867. Epub 2014 Apr 28.
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Impact of serum C-reactive protein level on the prognosis of patients with hepatocellular carcinoma undergoing TACE.血清 C-反应蛋白水平对接受 TACE 治疗的肝细胞癌患者预后的影响。
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Association of XPD and XRCC1 genetic polymorphisms with hepatocellular carcinoma risk.XPD和XRCC1基因多态性与肝细胞癌风险的关联。
Asian Pac J Cancer Prev. 2012;13(9):4423-6. doi: 10.7314/apjcp.2012.13.9.4423.
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Polymorphisms of DNA repair gene XRCC1 and hepatocellular carcinoma risk among East Asians: a meta-analysis.东亚人群中DNA修复基因XRCC1多态性与肝细胞癌风险的Meta分析
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