CCR5 promoter polymorphisms and HIV-1 perinatal transmission in Brazilian children

Area of Science:

• Genetics
• Immunology
• Virology

Background:

• Human Immunodeficiency Virus type 1 (HIV-1) transmission from mother to child remains a significant global health concern.
• The CCR5 receptor plays a crucial role in HIV-1 infection, particularly in T-cell mediated immunity.
• Understanding genetic factors influencing susceptibility to HIV-1 infection is vital for developing targeted prevention strategies.

Purpose of the Study:

• To investigate the association between CCR5 promoter polymorphisms and CCR5 Delta32 deletion and vertical transmission of HIV-1 in Brazilian children.
• To determine if specific CCR5 genotypes are linked to increased or decreased risk of HIV-1 infection acquired perinatally.

Main Methods:

• Genotyping of four CCR5 promoter polymorphisms and the CCR5 Delta32 deletion using PCR amplification and direct sequencing.
• Comparative analysis of genotype frequencies in HIV-1 positive children, HIV-1 negative children born to HIV-1 positive mothers, and healthy controls.
• Statistical evaluation to identify significant differences in genotype distribution among the study groups.

Main Results:

• No significant differences were observed for CCR5 Delta32, CCR5-59356-C/T, and CCR5-59653 C/T polymorphisms among the groups.
• Significant differences in the frequencies of CCR5-59353-T/C and CCR5-59402-A/G genotypes were found between HIV-1 positive, HIV-1 negative, and healthy control children.
• The CCR5-59353-TT genotype showed a trend towards an increased risk of vertical HIV-1 transmission.
• The CCR5-59402-AA genotype suggested a protective effect against vertical HIV-1 transmission.

Conclusions:

• Specific CCR5 promoter polymorphisms, namely CCR5-59353 and CCR5-59402, are associated with vertical HIV-1 transmission in the studied Brazilian population.
• The CCR5-59353-TT genotype may represent a risk factor, while the CCR5-59402-AA genotype may confer protection against perinatal HIV-1 acquisition.
• These findings highlight the potential role of host genetic factors in determining susceptibility to vertical HIV-1 transmission and could inform future research and prevention efforts.