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TNFAIP3基因串联多态性(rs148314165,rs200820567)与中国汉族人群慢性乙型肝炎病毒感染的相关性

Association of the tandem polymorphisms (rs148314165, rs200820567) in TNFAIP3 with chronic hepatitis B virus infection in Chinese Han population.

作者信息

Li Na, Shi Ying, Zhang Pingping, Sang Jiao, Li Fang, Deng Huan, Lv Yi, Han Qunying, Liu Zhengwen

机构信息

Department of Infectious Diseases, First Affiliated Hospital of Xi'an Jiaotong University, 277 Yanta West Road, Xi' an, Shaanxi Province, 710061, China.

Maternal and Children Health Hospital of Tongchuan, Tongchuan, Shaanxi, 727000, China.

出版信息

Virol J. 2017 Aug 7;14(1):148. doi: 10.1186/s12985-017-0814-5.

Abstract

BACKGROUND

Chronic hepatitis B virus (HBV) infection remains an important public health issue. A20, a ubiquitin-editing protein encoded by tumor necrosis factor alpha-inducible protein 3 (TNFAIP3) gene, is complicated in HBV infection and liver injury. The tandem polymorphisms (rs148314165, rs200820567), deletion T followed by a T to A transversion and collectively referred to as TT > A in TNFAIP3, may attenuate A20 expression.

METHODS

The rs148314165 and rs200820567 polymorphisms were examined using PCR amplification followed by direct sequencing in 419 patients with chronic HBV infection, 77 HBV infection resolvers and 175 healthy controls of Chinese Han ethnicity.

RESULTS

The genotypes and alleles of rs148314165 and rs200820567 polymorphisms determined and the haplotypes constructed were consistently identical, confirming the reliable determination of the TT > A variant. The genotypes of rs148314165 and rs200820567 in HBV patients, HBV infection resolvers and healthy controls are in Hardy-Weinberg equilibrium (P > 0. 05). The patients with chronic HBV infection had higher frequency of TT > A variant than healthy controls (6.6% vs. 3.4%; OR, 1.979; 95% CI, 1.046-3.742; P = 0.033). The frequency of TT > A variant between patients with chronic hepatitis, liver cirrhosis, and hepatocellular carcinoma had no significant differences.

CONCLUSIONS

The TT > A variant of TNFAIP3 may be associated with the susceptibility of chronic HBV infection but not the clinical diseases. Studies in large sample size of HBV patient and control populations are required to further clarify the role of this important variant in chronic HBV infection and the disease progression related to the infection.

摘要

背景

慢性乙型肝炎病毒(HBV)感染仍然是一个重要的公共卫生问题。A20是一种由肿瘤坏死因子α诱导蛋白3(TNFAIP3)基因编码的泛素编辑蛋白,在HBV感染和肝损伤中情况复杂。TNFAIP3中的串联多态性(rs148314165、rs200820567),即T缺失后T向A的转换,统称为TT>A,可能会减弱A20的表达。

方法

采用聚合酶链反应(PCR)扩增后直接测序的方法,检测了419例慢性HBV感染患者、77例HBV感染康复者和175例中国汉族健康对照者的rs148314165和rs200820567多态性。

结果

所确定的rs148314165和rs200820567多态性的基因型和等位基因以及构建的单倍型始终一致,证实了TT>A变异的可靠测定。HBV患者、HBV感染康复者和健康对照者中rs148314165和rs200820567的基因型处于哈迪-温伯格平衡(P>0.05)。慢性HBV感染患者中TT>A变异的频率高于健康对照者(6.6%对3.4%;比值比,1.979;95%置信区间,1.046 - 3.742;P = 0.033)。慢性肝炎、肝硬化和肝细胞癌患者之间TT>A变异的频率无显著差异。

结论

TNFAIP3的TT>A变异可能与慢性HBV感染的易感性有关,但与临床疾病无关。需要对大量HBV患者和对照人群进行研究,以进一步阐明这一重要变异在慢性HBV感染中的作用以及与感染相关的疾病进展。

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