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血色素沉着症基因多态性作为埃及慢性丙型肝炎患者抗病毒治疗持续病毒学应答的预测指标

Hemochromatosis Gene Polymorphism as a Predictor of Sustained Virological Response to Antiviral Treatment in Egyptian Chronic Hepatitis C Patients.

作者信息

I Mehrez Mai, Sa Fattah Dina, Aa Azeem Naglaa, A Saleh Mohamed, M Mostafa Khadiga

机构信息

Department of Hepatology, National Hepatology and Tropical Medicine Institute, Cairo, Egypt.

Department of Medical Biochemistry and Molecular Biology, Cairo University, Cairo, Egypt.

出版信息

Euroasian J Hepatogastroenterol. 2017 Jul-Dec;7(2):154-157. doi: 10.5005/jp-journals-10018-1238. Epub 2017 Sep 29.

Abstract

AIM

The aim of this article is to assess HFE C282Y gene mutations as a predictor of sustained virological response (SVR) to anti-hepatitis C virus (HCV) treatment in Egyptian patients.

MATERIALS AND METHODS

One hundred and forty chronic hepatitis C (CHC) patients were divided into two groups: 70 patients achieved SVR and 70 patients were nonresponders (NRs). All patients were subjected to quantitative polymerase chain reaction (PCR) at baseline, 12 and 24 weeks after therapy commencement. Deoxyribonucleic acid (DNA) sequencing for HFE (C282Y) was done by restriction fragment length polymorphism PCR.

RESULTS

Sixty five patients did not have mutation and 5 patients had C282Y mutation (GA) with SVR. While 45 NRs had heterozygous C282Y mutation (GA), 4 patients (5.7%) had homozygous mutation (AA) and 21 patients (30%) had no mutation (GG). The parameters of elevated iron [transferrin saturation (TS; p < 0.001), S iron (p < 0.02), total iron binding capacity (TIBC; p < 0.001), transferrin (p < 0.016), and soluble transferrin receptor (sTfR; p-value, 0.001)] were significantly associated with C282Y mutation. However, there was no significant difference regarding ferritin values and C282Y mutation in NR patients.

CONCLUSION

Iron overload was frequently detected in CHC patients and associated with C282Y mutation, while biochemical markers of iron overload and C282Y HFE mutation were negative prognostic factor. Mehrez MI, Fattah DSA, Azeem NAA, Saleh MA, Mostafa KM. Hemochromatosis Gene Polymorphism as a Predictor of Sustained Virological Response to Antiviral Treatment in Egyptian Chronic Hepatitis C Patients. Euroasian J Hepato-Gastroenterol 2017;7(2):154-157.

摘要

目的

本文旨在评估HFE C282Y基因突变作为埃及患者抗丙型肝炎病毒(HCV)治疗持续病毒学应答(SVR)预测指标的价值。

材料与方法

140例慢性丙型肝炎(CHC)患者被分为两组:70例实现SVR的患者和70例无应答者(NRs)。所有患者在基线、治疗开始后12周和24周接受定量聚合酶链反应(PCR)检测。通过限制性片段长度多态性PCR对HFE(C282Y)进行脱氧核糖核酸(DNA)测序。

结果

65例患者无突变,5例具有C282Y突变(GA)且实现SVR。在NRs中,45例有杂合C282Y突变(GA),4例(5.7%)有纯合突变(AA),21例(30%)无突变(GG)。铁升高的参数[转铁蛋白饱和度(TS;p<0.001)、血清铁(p<0.02)、总铁结合力(TIBC;p<0.001)、转铁蛋白(p<0.016)和可溶性转铁蛋白受体(sTfR;p值,0.001)]与C282Y突变显著相关。然而,NR患者的铁蛋白值与C282Y突变之间无显著差异。

结论

CHC患者中经常检测到铁过载,且与C282Y突变相关,而铁过载的生化标志物和C282Y HFE突变是阴性预后因素。梅赫雷兹·米、法塔赫·DSA、阿齐姆·NAA、萨利赫·马、穆斯塔法·KM。血色病基因多态性作为埃及慢性丙型肝炎患者抗病毒治疗持续病毒学应答的预测指标。《欧亚肝脏胃肠病学杂志》2017年;7(2):154 - 157。

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