DEFB1 gene polymorphisms and increased risk of HIV-1 infection in Brazilian children

Abstract

In our study we analysed three single nucleotide polymorphisms (SNPs) in the 5' untranslated region (UTR) of the DEFB1 gene, namely -52(G/A) -44(C/G) and -20(G/A), in three groups of northeastern Brazilian children in order to assess their role in HIV-1 infection. Our results allowed us to hypothesize that the SNPs located in the 5' UTR of the DEFB1 gene can be employed as a marker of risk for HIV-1 infection.

Expresión diferencial en placenta de beta-defensinas humanas y detección de variantes alélicas en el gen DEFB1 de madres positivas para VIH-1

“…Although the anti-HIV-1 role of HBD-1 has not been previously reported, an association between SNPs in DEFB1 and the risk of acquiring HIV-1 infection has been suggested (44)(45)(46)(47). In our group, studies have indicated that the A692G polymorphism is associated with resistance to HIV-1 infection among discordant couples (42).…”

“…Previous SNP studies have suggested that -44 C/G (site 668), -20 A/G (site 692) and -52 G/A (site 660) SNPs in DEFB1 are associated with differential risks of vertical transmission of HIV-1 (44)(45)(46)(47). Furthermore, the frequency of the SNP genotype A692G G/G in the DEFB1 gene was significantly higher in ESN compared to SP individuals and suggested an association of this SNP with resistance to HIV-1 infection (42).…”

Increased Gut Permeability and Microbiota Change Associate with Mesenteric Fat Infl ammation and Metabolic Dysfunction in Diet-Induced Obese Mice

“…In line with the widespread expression of HBD1 and therefore its seemingly grave importance in epithelial defense, the variant also holds relevance in additional clinical contexts, e.g. in HIV transmission (Braida et al, 2004;Milanese et al, 2006) and oral infections (Jurevic et al, 2003). The SNP is generally functionally linked to HBD1 mRNA level, and interestingly also involved in the transcriptional expression of HBD3, at least in keratinocytes (Kalus et al, 2009).…”

Epidemiological Aspects of Infectious Conjunctivitis

“…34,35 These -20A/-44C/-52G haplotypes have all been associated with chronic lung infection with P. aeruginosa. 36 The -44C allele also predisposes to infection by HIV 37,38 and Candida spp. 39 Moreover, Carter et al also found that it strongly associated with endophthalmitis.…”