Abstract

Perforin-1, a component of the immune system, is able to control Human Immunodeficiency Virus-1 (HIV-1) replication and could be involved in HIV-1 mother-to-child transmission (MTCT). This study aims at evaluating the role of the c.900C > T PRF1 gene (encoding for perforin-1) polymorphism (rs885822) in HIV-1 MTCT. The PRF1 c.900C > T polymorphism was genotyped in 331 children from Zambia using a Taqman probe on a Real Time PCR platform. The PRF1 c.900C > T C/T genotype was more frequent among HIV-1 exposed but non-infected children than in HIV-1 positive cases, and the results were confirmed among children infected during breastfeeding. PRF1 c.900C > T correlated with protection against HIV-1 MTCT, suggesting its role in HIV-1 vertical transmission.

Highlights

  • Perforin-1 is a protein present in the granules of cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells (Heintel et al, 2002)

  • PRF1 c.900C>T was analyzed in a population of Human Immunodeficiency Virus-1 (HIV-1) exposed children from Zambia in order to replicate previous findings, contributing to disclose its possible involvement in HIV-1 mother to child transmission (MTCT)

  • When children were subdivided according to the route of transmission, C allele and C/T genotype correlated with protection towards HIV-1 MTCT in the group of PP infected children (C allele: p=0.02, OR=0.35, CI=0.11-0.90; power=0.64; and C/T genotype: p=0.01, OR=0.22, CI=0.04-0.74; power=0.50; Table 1 and Table S1) after adjustment for maternal CD4 cells count and HIV-1 plasma viral load (p=0.009, OR=0.19, CI=0.05-0.66; data not shown)

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Summary

Introduction

Perforin-1 (pore forming protein) is a protein present in the granules of cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells (Heintel et al, 2002). PRF1 c.900C>T was analyzed in a population of HIV-1 exposed (infected and uninfected) children from Zambia in order to replicate previous findings, contributing to disclose its possible involvement in HIV-1 mother to child transmission (MTCT).

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