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Genetics and Molecular Biology

versão impressa ISSN 1415-4757versão On-line ISSN 1678-4685

Genet. Mol. Biol., ahead of print  Epub 10-Jun-2019 


[PROVISIONAL] Perforin Gene PRF1 c.900C>T Polymorphism and HIV-1 Vertical Transmission

Luisa Zupin1 

Vania Polesello2 

Anselmo Jiro Kamada3 

Rossella Gratton2 

Ludovica Segat2 

Louise Kuhn4 

Sergio Crovella1  2 

1Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy

2Institute for Maternal and Child Health IRCCS “Burlo Garofolo”, Trieste, Italy

3Department of Genetics, Federal University of Pernambuco, Recife, Brazil

4Gertrude H. Sergievsky Center and Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA


Perforin-1, component of the immune system, is able to control Human Immunodeficiency Virus-1 (HIV-1) replication and it could be involved in HIV-1 mother-to-child transmission (MTCT). This study aims at evaluating the role of c.900C>T PRF1 gene (encoding for perforin-1) polymorphism (rs885822) in HIV-1 MTCT. PRF1 c.900C>T polymorphism was genotyped in 331 children from Zambia using Taqman probe on Real Time PCR platform. PRF1 c.900C>T C/T genotype was more frequent amongst 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.

Keywords: PRF1; perforin; HIV-1 susceptibility

Full text available in PDF.

Received: October 22, 2018; Accepted: February 04, 2019

Send correspondence to: Dr. Luisa Zupin. Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy. Tel +39 040 3786422. E-mail:

Creative Commons License License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited.