Role of β-defensin-1 polymorphisms in mother-to-child transmission of hiv-1

Elisabetta Ricci, Sandro Malacrida, Marisa Zanchetta, Marco Montagna, Carlo Giaquinto, Anita De Rossi

Research output: Contribution to journalArticlepeer-review


BACKGROUND AND OBJECTIVES: 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 β-defensin-1 gene and MTCT of HIV-1. PATIENTS AND 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 (

Original languageEnglish
Pages (from-to)13-19
Number of pages7
JournalJournal of Acquired Immune Deficiency Syndromes
Issue number1
Publication statusPublished - May 2009


  • B-defensins
  • HIV-1
  • Mother-to-child transmission
  • Natural immunity

ASJC Scopus subject areas

  • Infectious Diseases
  • Pharmacology (medical)


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