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CTLA-4 外显子 1 +49 多态性单独存在或与 -318 启动子多态性形成单倍型可能与中国汉族慢性 HBV 感染者的易感性相关。

CTLA-4 exon 1 +49 polymorphism alone and in a haplotype with -318 promoter polymorphism may confer susceptibility to chronic HBV infection in Chinese Han patients.

机构信息

Department of Infectious Diseases, First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an 710061, Shaanxi Province, People's Republic of China.

出版信息

Mol Biol Rep. 2011 Nov;38(8):5125-32. doi: 10.1007/s11033-010-0660-7. Epub 2010 Dec 15.

DOI:10.1007/s11033-010-0660-7
PMID:21161390
Abstract

Cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) plays a pivotal role in regulating T cell activation, which is believably critical for the outcome of hepatitis B virus (HBV) infection. The expression and function of CTLA-4 may be affected by gene polymorphisms. This study investigated the influence of CTLA-4 polymorphisms on disease susceptibility in Chinese Han patients with chronic HBV infection. CTLA-4 +49A/G and -318C/T polymorphisms were evaluated by DNA amplification with polymerase chain reaction followed by the restriction fragment length polymorphism analysis. The patients with chronic HBV infection had higher frequencies of genotype AA and allele A of CTLA-4 +49A/G polymorphism. The haplotype +49A-318C was significantly over-represented (P < 0.001) and haplotype +49G-318C under-represented (P = 0.006) in the patients. The +49GG genotype was more frequent (P = 0.009) and +49A allele was less frequent in patients with lower ALT levels (P = 0.012) in HBeAg positive chronic hepatitis B. It is indicated that CTLA-4 +49A/G polymorphism alone and in a haplotype with -318C allele may confer susceptibility to chronic HBV infection in Chinese Han patients.

摘要

细胞毒性 T 淋巴细胞相关抗原 4(CTLA-4)在调节 T 细胞活化中发挥着关键作用,这对于乙型肝炎病毒(HBV)感染的结局可能至关重要。CTLA-4 的表达和功能可能受到基因多态性的影响。本研究旨在探讨 CTLA-4 多态性对中国汉族慢性 HBV 感染患者疾病易感性的影响。采用聚合酶链反应(PCR)扩增后限制性片段长度多态性分析(RFLP)检测 CTLA-4 +49A/G 和 -318C/T 多态性。慢性 HBV 感染者 CTLA-4 +49A/G 多态性的 AA 基因型和 A 等位基因频率较高。+49A-318C 单体型显著过表达(P < 0.001),+49G-318C 单体型显著低表达(P = 0.006)。在 HBeAg 阳性慢性乙型肝炎中,ALT 水平较低的患者+49GG 基因型更为常见(P = 0.009),+49A 等位基因更为少见(P = 0.012)。提示 CTLA-4 +49A/G 多态性及其与 -318C 等位基因的单体型可能使中国汉族患者易患慢性 HBV 感染。

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