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甘露聚糖结合凝集素 2(MBL2)基因的变异等位基因高频与乙型肝炎病毒感染患者相关。

High frequency of variant alleles of the mannose-binding lectin 2 (MBL2) gene are associated with patients infected by hepatitis B virus.

机构信息

Biological Science Institute-University of Pernambuco (ICB-UPE), Recife, Pernambuco, Brazil.

出版信息

Viral Immunol. 2010 Aug;23(4):449-53. doi: 10.1089/vim.2009.0105.

DOI:10.1089/vim.2009.0105
PMID:20712490
Abstract

Patients with hepatitis B virus (HBV) infection may develop severe chronic liver disease. Carriers of HBV have an increased risk of developing cirrhosis, hepatic decompensation, and hepatocellular carcinoma. Worldwide an estimated 350 million people are infected with HBV, and 15-40% will develop serious sequelae in their lifetime. In our study we investigated the association of single nucleotide polymorphisms (SNPs) in the first exon and promoter region of the mannose-binding lectin gene 2 (MBL2) situated on chromosome 10, with susceptibility to HBV infection. One-hundred and two patients infected with HBV were included in this study, and 232 uninfected individuals were used as healthy controls. Genotyping of the first exon (alleles A/O) was performed using a melting temperature assay. Genotyping of the promoter region (-550 H/L; -221 Y/X) was performed using the Taqman PCR technique. In the HBV-infected group we found a significantly increased frequency of haplotypes associated with low serum MBL. Our findings may indicate that MBL has a protective role against HBV infection in the studied population.

摘要

乙型肝炎病毒 (HBV) 感染者可能会发展为严重的慢性肝脏疾病。HBV 携带者发生肝硬化、肝功能失代偿和肝细胞癌的风险增加。全球估计有 3.5 亿人感染了 HBV,其中 15-40%的人在一生中会发展为严重的后遗症。在我们的研究中,我们研究了位于第 10 号染色体上的甘露糖结合凝集素基因 2 (MBL2) 第一外显子和启动子区域的单核苷酸多态性 (SNP) 与 HBV 感染易感性之间的关系。本研究纳入了 102 例 HBV 感染者,232 例未感染者作为健康对照。使用熔点分析进行第一外显子 (等位基因 A/O) 的基因分型。使用 Taqman PCR 技术进行启动子区域 (-550 H/L;-221 Y/X) 的基因分型。在 HBV 感染组中,我们发现与低血清 MBL 相关的单倍型频率显著增加。我们的研究结果可能表明 MBL 在研究人群中对 HBV 感染具有保护作用。

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