Department of Genetics and Developmental Biology, Southeast University School of Medicine, Nanjing 210009, China; The Key Laboratory of Developmental Genes and Human Disease, Ministry of Education, Southeast University, Nanjing 210009, China.
Infect Genet Evol. 2013 Dec;20:163-70. doi: 10.1016/j.meegid.2013.09.010. Epub 2013 Sep 13.
Mannose-binding lectin (MBL) plays an important role in immunity to HIV-1 infection. The exon1 coding polymorphisms of the MBL2 gene have been implicated in the susceptibility to HIV-1 infection, but the results were controversial. In the present study, a case-control study in a Chinese population was conducted to replicate the association, and then a meta-analysis combing our new data and published data was performed to clarify these findings. In total, 15 studies consisting 2219 HIV-1 patients and 2744 controls were included. Odds ratios (ORs) with 95% confidence intervals (95% CIs) were assessed in the main analyses. By dividing the controls into two groups, healthy controls and HIV-1 exposed but seronegative (HESN) controls, we explored different genetic models and allelic model to detect the association. By using the healthy controls, we found that the MBL2 exon 1 polymorphisms were associated with hosts' susceptibility to HIV-1 infection in dominant model (p=0.01, 95% CI 1.05-1.43), recessive model (p<0.0001, 95% CI 1.35-2.28), allelic model (p<0.0001, 95% CI 1.12-1.37) and O/O vs. A/A model (p<0.00001, 95% CI 1.40-2.38). In the subgroup analysis by ethnicity, significant elevated risks were found in Caucasians (recessive model: p<0.0001, 95% CI 1.36-2.51), but not in Asians (recessive model: p=0.10, 95% CI 0.91-2.77). Collectively, our findings from our case-control replication study and meta-analysis suggested that the MBL2 gene exon 1 coding variants were associated with hosts' susceptibility to HIV-1 infection, especially in Caucasians, but not in Asians.
甘露糖结合凝集素（MBL）在 HIV-1 感染的免疫中发挥重要作用。MBL2 基因外显子 1 编码多态性与 HIV-1 感染易感性有关，但结果存在争议。本研究在中国人群中进行病例对照研究，以验证该关联，然后进行荟萃分析，结合我们的新数据和已发表的数据，以阐明这些发现。共纳入 15 项研究，包括 2219 例 HIV-1 患者和 2744 例对照。主要分析中评估了比值比（OR）及其 95%置信区间（95%CI）。通过将对照组分为健康对照组和 HIV-1 暴露但血清阴性（HESN）对照组，我们探索了不同的遗传模型和等位基因模型来检测关联。使用健康对照组，我们发现 MBL2 外显子 1 多态性与宿主对 HIV-1 感染的易感性在显性模型（p=0.01，95%CI 1.05-1.43）、隐性模型（p<0.0001，95%CI 1.35-2.28）、等位基因模型（p<0.0001，95%CI 1.12-1.37）和 O/O 与 A/A 模型（p<0.00001，95%CI 1.40-2.38）中存在关联。按种族亚组分析，在白种人中发现了显著的风险增加（隐性模型：p<0.0001，95%CI 1.36-2.51），但在亚洲人中没有（隐性模型：p=0.10，95%CI 0.91-2.77）。综上所述，我们的病例对照研究和荟萃分析结果表明，MBL2 基因外显子 1 编码变异与宿主对 HIV-1 感染的易感性有关，特别是在白种人中，但在亚洲人中没有。
