A polymorphism in PRF1 gene is associated with HIV-1 vertical transmission in Brazilian children

Area of Science:

• Genetics
• Immunology
• Infectious Diseases

Background:

• Mother-to-child transmission remains a significant route for pediatric HIV-1 infection.
• Genetic factors can influence susceptibility and resistance to viral infections.
• The PRF1 gene encodes perforin, a key component of cytotoxic T lymphocyte-mediated immunity.

Purpose of the Study:

• To investigate the association between PRF1 gene polymorphisms and vertical HIV-1 transmission in Brazilian children.
• To identify specific PRF1 genetic variants that may confer protection against or susceptibility to HIV-1 acquisition during pregnancy.

Main Methods:

• Genotyping of seven single nucleotide polymorphisms (SNPs) within the PRF1 gene.
• Analysis of PRF1 SNPs in three groups of children: perinatally HIV-1 infected (HIV+), exposed but uninfected (HIV-), and HIV-unexposed uninfected controls.
• Statistical analysis to compare allele and genotype frequencies between HIV-positive and HIV-negative groups.

Main Results:

• Seven single nucleotide polymorphisms (SNPs) in the PRF1 gene were identified.
• The rs885822 C allele and its corresponding CC genotype were found to be significantly more frequent in HIV-negative children (exposed uninfected and unexposed uninfected) compared to HIV-positive children.
• These findings suggest a potential protective effect of the rs885822 C allele/genotype against vertical HIV-1 transmission.

Conclusions:

• The PRF1 gene rs885822 polymorphism is associated with HIV-1 vertical transmission risk in the studied Brazilian cohort.
• The C allele and CC genotype of rs885822 may confer a protective effect, reducing the likelihood of mother-to-child HIV-1 transmission.
• Further research is warranted to elucidate the precise mechanisms underlying this protective association.