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DEFB-1 genetic polymorphism screening in HIV-1 positive pregnant women and their children

2006; Informa; Volume: 19; Issue: 1 Linguagem: Inglês

10.1080/14767050500381123

1476-7058

Ludovica Segat, Michele Milanese, Michele Boniotto, Sérgio Crovella, Maria Bernardon, Monica Costantini, Salvatore Alberico, The Italian Group Sigo HIV in Obste,

HIV/AIDS drug development and treatment

In our study we evaluated the frequency of three SNPs (-52 G/A, -44 C/G; -20 G/A) in the 5' UTR of DEFB-1 gene, in a cohort of 130 HIV-1 infected mothers and their children, collected by the Italian group SIGO in Obstetrics and Gynecology.The three SNPs (-52 G/A, -44 C/G; -20 G/A) in the 5' UTR of DEFB-1 gene were genotyped by direct sequencing of PCR products.The C allele at position -44 was shown to be significantly different in both HIV-1 positive mothers and their children when compared to the healthy controls. The odds ratio for -44 C allele in children born to HIV-1 infected mothers is 7.09 (confidence interval 3.38-15.3) while the odds ratio for this allele in HIV-1 infected mothers is 6.42 (confidence interval 3.14-13.4).Our results evidence a high frequency of the -44 CC allele in HIV-1 infected mothers and their children with augmented potential risk of maternal fetal transmission. This potential vertical transmission risk has been successfully prevented by antiretroviral drug treatment and cesarian section of the HIV-1 positive mothers.