MBL2 gene polymorphisms related to HIV-1 infection susceptibility and treatment response

Hum Immunol. 2023 Feb;84(2):80-88. doi: 10.1016/j.humimm.2022.09.007. Epub 2022 Oct 17.

Abstract

Human Mannose-binding lectin (MBL) is a protein encoded by MBL2 gene involved in the activation of the lectin-complement pathway. Several studies emphasized the role of MBL2 gene in several infectious diseases' susceptibility, including HIV-1 infection. We aim to investigate the impact of 10 MBL2 gene polymorphisms located in the promoter, 5'UTR and exon 1 regions on HIV-1 physiopathology. The polymorphisms genotyping of 400 individuals, which 200 were HIV-1 positive patients and 200 were controls, was performed by PCR-sequencing. Our results showed that rs503037 and rs1800451 polymorphisms are associated with a high risk of HIV-1 infection susceptibility while rs7096206 and rs11003123 showed a protective effect. A significant association between haplotype CGA and HIV-1 infection susceptibility was also found in the exon 1 region. Moreover, rs11003124, rs7084554, rs36014597 and rs11003123 polymorphisms revealed an association with treatment response outcome as measured by RNA viral load. This study highlights the importance of MBL2 polymorphisms in the modulation of HIV-1 infection susceptibility and the contribution to treatment response outcomes among Moroccan subjects.

Keywords: ART; Disease development; HIV-1; Infection susceptibility; MBL2 gene; Polymorphisms.

MeSH terms

  • Genetic Predisposition to Disease
  • Genotype
  • HIV Infections* / genetics
  • HIV Seropositivity*
  • HIV-1*
  • Haplotypes
  • Humans
  • Mannose-Binding Lectin* / genetics
  • Polymorphism, Genetic

Substances

  • Mannose-Binding Lectin
  • MBL2 protein, human