HFE基因多态性检测判断慢性丙型肝炎患者疾病活动的价值*

doi:10.3969/j.issn.1672-5069.2020.02.012

摘要/Abstract

摘要： 目的观察遗传性血色素沉着症候选基因HFE多态性检测判断CHC疾病活动的价值。方法 2016年11月～2018年11月我院收治的257例丙型肝炎病毒感染者,其中病毒感染者131例和慢性丙型肝炎(CHC)患者126例。采用酶结合免疫吸附法测定血清铁蛋白(SF)水平,使用ABIPrismsTM-7900实时荧光定量PCR仪和TaqMan-MGB荧光探针,以实时定量PCR法检测HFE基因rs2071303和rs9366637位点基因型。结果病毒感染者SF水平为(97.5±4.1)μg/L,显著低于CHC患者【(202.1±24.5)μg/L,P＜0.05】,血清ALT水平为(34.0±4.5)U/L,显著低于CHC患者【(88.4±5.6)U/L,P＜0.05】,AST为(37.5±4.2)U/L,显著低于CHC患者【(70.0±5.4)U/L,P＜0.05】;病毒感染者HCV基因非Ⅰb型频率为29.8%,显著高于CHC患者13.5%(P＜0.05),病毒感染者HCV基因型中混合型频率为9.1%,显著低于CHC患者的21.4%(P＜0.05);病毒感染者rs2071303位点GG基因型患者SF水平为(97.6±4.2)μg/L,显著低于CHC患者【(199.5±45.4)μg/L,P＜0.05】,GA基因型SF水平为(97.6±4.1)μg/L,显著低于CHC患者【(207.5±34.7)μg/L,P＜0.05】,AA基因型SF水平为(96.7±3.7)μg/L,显著低于CHC患者【(198.0±44.8)μg/L,P＜0.05】;病毒感染者rs9366637位点TT基因型患者SF水平为(97.4±4.0)μg/L,显著低于CHC患者【(206.4±35.6)μg/L,P＜0.05】,TC基因型SF水平为(97.2±4.0)μg/L,显著低于CHC患者【(208.5±34.0)μg/L,P＜0.05】,CC基因型SF水平为(99.1±4.5)μg/L,显著低于CHC患者【(178.5±58.6)μg/L,P＜0.05】;病毒感染者rs2071303位点AA基因型频率为13.7%,显著低于CHC患者的21.4%(P＜0.05),病毒感染者AC单倍型频率为3.1%,显著低于CHC患者的8.3%(P＜0.05)。结论 HFE基因多态性与CHC疾病活动密切相关,临床应引起足够的重视。

关键词: 慢性丙型肝炎, 遗传性血色素沉着症候选基因, HFE, 基因多态性, 铁蛋白, 疾病活动

Abstract: Objective The aim of this study was to investigate the implication of HFE, a genetic hemochromatosis candidate gene, polymorphism in individuals with hepatitis C viral infection. Methods 257 individuals with hepatitis C infection (131 with hepatitis C infection and 126 with chronic hepatitis C, CHC) were enrolled in our hospital between November 2016 and November 2018, and serum ferritin was assayed. The distribution of two polymorphic loci, e.g. rs2071303 and rs9366637, were detected. Results Serum ferritin level in individuals with hepatitis C infection were (97.5±4.1)μg/L, significantly lower than 【(202.1±24.5)μg/L,P＜0.05】 in patients with CHC, serum ALT level was (34.0±4.5)U/L, significantly lower than 【(88.4±5.6)U/L, P＜0.05】, AST level was (37.5±4.2)U/L, much lower than 【(70.0±5.4)U/L, P＜0.05】 in patients with CHC; the frequency of non-Ⅰb in individuals with HCV infection was 29.8%, much highpolymorphism; Ferritin; Active disease than 13.5%(P＜0.05), and of mixed was 9.1%, significantly lower than 21.4%(P＜0.05) in patients with CHC; serum SF level in infected persons with GG genotype at rs2071303 locus was (97.6±4.2) μg/L, significantly lower than [(199.5±45.4) μg/L, P<0.05], in with GA genotype was (97.6±4.1) μg/L, significantly lower than [(207.5±34.7) μg/L, P<0.05], in with AA genotype was (96.7±3.7) μg/L, significantly lower than [(198.0±44.8) μg/L, P<0.05] in patients with CHC, and SF level in infected persons with TT genotype at rs9366637 locus was (97.4±4.0) μg/L, significantly lower than [(206.4 ±35.6) μg/L, P<0.05], in with TC genotype was (97.2±4.0) μg/L, significantly lower than [(208.5±34.0) μg/L, P<0.05], in with CC genotype was (99.1±4.5) μg/L, significantly lower than [(178.5±58.6) μg/L, P<0.05] in patients with CHC; the frequency of AA genotype of rs2071303 in infected persons was 13.7%, significantly lower than 21.4% in patients with CHC (P<0.05), and the frequency of haplotype AC was 3.1%, significantly lower than 8.3% in patients with CHC (P<0.05). Conclusion HFE gene polymorphism is closely related to the active disease in individuals with chronic hepatitis C viral infection, which warrants further investigation.

Key words: Hepatitis C, Genetic hemochromatosis candidate gene, HFE, Gene

刘亿军, 段舒馨, 游春芳, 龚科. HFE基因多态性检测判断慢性丙型肝炎患者疾病活动的价值^*[J]. 实用肝脏病杂志, 2020, 23(2): 195-198.

Liu Yijun, Duan Shuxin , You Chunfang, et al. Implication of HFE gene polymorphism in individuals with hepatitis C viral infection[J]. Journal of Practical Hepatology, 2020, 23(2): 195-198.

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HFE基因多态性检测判断慢性丙型肝炎患者疾病活动的价值^*

Implication of HFE gene polymorphism in individuals with hepatitis C viral infection

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