title: Role of beta-defensin-1 polymorphisms in mother-to-child transmission of HIV-1.
abstract: OBJECTIVE
  Mother-to-child transmission (MTCT) of HIV-1, the main source of pediatric AIDS, is multifactorial. Defensins provide microbial barriers and function as effectors of innate immunity. This study investigated the relationship between genetic variants of beta-defensin-1 gene and MTCT of HIV-1.
  
  
  METHODS
  Three hundred children, 118 HIV-1 infected and 182 HIV-1 uninfected, born to HIV-1-infected mothers who had not undergone antiretroviral therapy during pregnancy, and 84 HIV-1-infected mothers were analyzed. The single nucleotide polymorphisms -44C/G (rs1800972) and -52G/A (rs1799946) were genotyped by TaqMan allelic discrimination assay and sequencing. Statistical analyses were performed using SNPStats and Bonferroni correction for multiple tests.
  
  
  RESULTS
  In children, the -52GG genotype and the -44G/-52G haplotype had a protective role against HIV-1 infection [odds ratio (OR) = 0.52, 95% confidence interval (CI) 0.31 to 0.86, P = 0.03 and OR = 0.50, 95% CI 0.31 to 0.83, P = 0.014, respectively]. In mothers, the -52GG genotype and the -44G/-52G haplotype were associated with low levels of HIV-1 plasma viremia (<1000 copies/mL) and a lower risk of maternal HIV-1 transmission (OR = 0.14, 95% CI 0.03 to 0.67, P = 0.009 and OR = 0.23, 95% CI 0.08 to 0.66, P = 0.012, respectively).
  
  
  CONCLUSIONS
  These results demonstrate a significant relationship between genetic variants of beta-defensin-1 gene, viral load, and MTCT of HIV-1, thus supporting a critical role of innate immunity in pediatric HIV-1 infection.
authors.affiliation: Department of Oncology and Surgical Sciences, Oncology Section, AIDS Reference Center, University of Padova, Padova, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Ricci
authors.forename: Sandro
authors.initials: S
authors.lastname: Malacrida
authors.forename: Marisa
authors.initials: M
authors.lastname: Zanchetta
authors.forename: Marco
authors.initials: M
authors.lastname: Montagna
authors.forename: Carlo
authors.initials: C
authors.lastname: Giaquinto
authors.forename: Anita
authors.initials: A
authors.lastname: De Rossi
mesh_terms: D001483:Base Sequence; D015331:Cohort Studies; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005838:Genotype; D015658:HIV Infections / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000635:transmission*; D015497:HIV-1; D006239:Haplotypes; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D018445:Infectious Disease Transmission, Vertical; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious / Q000235:genetics* / Q000276:immunology; D012307:Risk Factors; D014766:Viremia / Q000150:complications / Q000235:genetics / Q000276:immunology; D023083:beta-Defensins / Q000235:genetics*
chemical_list: C406407:DEFB1 protein, human; D017931:DNA Primers; D023083:beta-Defensins