Perforin gene <i>PRF1</i> c.900C&gt; T polymorphism and HIV-1 vertical transmission

Zupin, Luisa; Polesello, Vania; Kamada, Anselmo Jiro; Gratton, Rossella; Segat, Ludovica; Kuhn, Louise; Crovella, Sergio

doi:10.1590/1678-4685-GMB-2018-0243

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Human and Medical Genetics • Genet. Mol. Biol. 42 (3) • Jul-Sep 2019 • https://doi.org/10.1590/1678-4685-GMB-2018-0243 copy

Perforin gene PRF1 c.900C> T polymorphism and HIV-1 vertical transmission

Authorship SCIMAGO INSTITUTIONS RANKINGS

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.

Keywords:
PRF1; perforin; HIV-1 susceptibility

Children	HIV+	IU	IP	PP	HIV-	HIV+ vs. HIV-	IU vs. HIV-	IP vs. HIV-	PP vs. HIV-
	n=85	n=22	n=25	n=38	n=246
PRF1
c.900C > T rs885822
T	0.89 (151)	0.82 (36)	0.88 (44)	0.93 (71)	0.83 (410)	Ref.	Ref.	Ref.	Ref.
C	0.11 (19)	0.18 (8)	0.12 (6)	0.07 (5)	0.17 (82)	p=0.11; CI=0.35-1.09; OR=0.63	p=0.83; CI=0.43-2.55; OR=1.11	p=0.54; CI=0.23-1.68; OR=0.68	p=0.02; CI=0.11-0.90; OR=0.35
T/T	0.81 (69)	0.73 (16)	0.76 (19)	0.87 (34)	0.70 (171)	Ref.	Ref.	Ref.	Ref.
C/T	0.15 (13)	0.18 (4)	0.24 (6)	0.13 (3)	0.28 (68)	p=0.03; CI=0.23-0.94; OR=0.47	p=0.60; CI=0.15-2.05; OR=0.63	p=0.82; CI=0.25-2.18; OR=0.79	p=0.01; CI=0.04-0.74; OR=0.22
C/C	0.04 (3)	0.09 (2)	0.00 (0)	0.004 (1)	0.03 (7)	p=1.00; CI=0.17-4.82; OR=1.06	p=0.19; CI=0.28-17.83; OR=3.03	n.c.	p=1.00; CI=0.01-5.90; OR=0.72
HWE	χ²=4.48 p=0.03	χ²=3.33 p=0.07	χ²=0.46 p=0.49	χ²=4.86 p=0.03	χ²=0.01 p=0.94

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[1] Send correspondence to Luisa Zupin. Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, 34100, Italy. E-mail: luisa.zupin@burlo.trieste.it.