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


METHODS
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.


RESULTS
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).


CONCLUSIONS
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.
Department of Developmental and Reproductive Sciences, Generic Unit, University of Trieste, Trieste, Italy.
Ludovica
L
Segat
Michele
M
Milanese
Michele
M
Boniotto
Sergio
S
Crovella
Maria
M
Bernardon
Monica
M
Costantini
Salvatore
S
Alberico
D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D015658:HIV Infections / Q000235:genetics*; D015497:HIV-1; D006801:Humans; D018445:Infectious Disease Transmission, Vertical; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious / Q000235:genetics; D023083:beta-Defensins / Q000235:genetics*
C406407:DEFB1 protein, human; D023083:beta-Defensins