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甘露糖结合凝集素基因多态性与儿童巨细胞病毒感染的关系。

Association between mannose-binding lectin gene polymorphism and pediatric cytomegalovirus infection.

机构信息

Laboratory Center, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China.

出版信息

Viral Immunol. 2010 Aug;23(4):443-7. doi: 10.1089/vim.2009.0109.

Abstract

Mannose-binding lectin (MBL) is an important constituent of the human innate immune system, and can bind to a wide range of pathogens, including viruses such as influenza A, HIV, herpes simplex 2, and SARS-CoV. MBL deficiency results from single nucleotide polymorphisms (SNPs) in exon 1, and the promoter region of the human MBL2 gene has been found to be associated with susceptibility to a number of infections. However, studies on the interactions between MBL and CMV infection are limited. In this study, we investigated 104 children suffering from HCMV infection, in an effort to find any association between MBL and HCMV infection of children in China. We analyzed the genotypes of 104 HCMV patients and 105 healthy controls, and investigated the distributions of polymorphisms at -550(H/L), -221(Y/X), and +4(P/Q), together with their structural variants. Although there was no significant difference in the distribution of B alleles between HCMV patients and healthy controls, the frequencies of the high-MBL-level related genotype of YA type in HCMV patients were significantly lower than those seen in healthy controls, while low-level related genotypes of XB type were more common in HCMV patients. In addition, CMV-DNA quantification revealed higher viral loads of the XB type in HCMV patients. Thus we can speculate that as an acute response protein and a pattern-recognition molecule of the innate immune system, MBL may play a role in protecting against HCMV infection in children, and MBL gene mutations may be a significant risk factor for the development of infantile HCMV infection.

摘要

甘露糖结合凝集素 (MBL) 是人体先天免疫系统的重要组成部分,可以与多种病原体结合,包括流感 A、HIV、单纯疱疹 2 型和 SARS-CoV 等病毒。MBL 缺陷是由于外显子 1 中的单核苷酸多态性 (SNP) 引起的,人类 MBL2 基因的启动子区域已被发现与多种感染的易感性有关。然而,关于 MBL 与 CMV 感染之间相互作用的研究有限。在这项研究中,我们调查了 104 名患有 HCMV 感染的儿童,试图寻找 MBL 与中国儿童 HCMV 感染之间的任何关联。我们分析了 104 例 HCMV 患者和 105 名健康对照者的基因型,并研究了-550(H/L)、-221(Y/X)和+4(P/Q)的多态性分布及其结构变异。虽然 HCMV 患者和健康对照组之间 B 等位基因的分布没有显著差异,但 YA 型高 MBL 水平相关基因型在 HCMV 患者中的频率明显低于健康对照组,而 XB 型低水平相关基因型在 HCMV 患者中更为常见。此外,CMV-DNA 定量显示 HCMV 患者的 XB 型病毒载量更高。因此,我们可以推测,作为急性反应蛋白和先天免疫系统的模式识别分子,MBL 可能在保护儿童免受 HCMV 感染方面发挥作用,MBL 基因突变可能是婴儿 HCMV 感染发展的重要危险因素。

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