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

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

doi:10.1080/14767050500381123

Cited by 27 publications

(27 citation statements)

References 8 publications

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“…It is thought to be constitutively expressed in the vitreous, and one of the SNPs we identified, –44G→C, has been previously linked with a predisposition to infection. Two independent studies have shown an association between –44C allele and HIV infection 5 7. Furthermore, Hu et al 6 observed an increase in the –44C allele associated with patients having chronic obstructive pulmonary disease when compared with healthy smokers.…”

Section: Resultsmentioning

confidence: 98%

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A case of bilateral endophthalmitis and carriage of -defensin 1 44CC genotype

Carter

Churchill

Gorman

et al. 2007

British Journal of Ophthalmology

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Section: Resultsmentioning

confidence: 98%

“…We present a case of bilateral endophthalmitis and show the carriage of the –44CC genotype in β-defensin 1. The polymorphism has previously been linked to increased susceptibility to infection 4 – 7…”

mentioning

confidence: 99%

A case of bilateral endophthalmitis and carriage of -defensin 1 44CC genotype

Carter

Churchill

Gorman

et al. 2007

British Journal of Ophthalmology

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“…As is the case with other genes, some of these SNPs may influence the biological function of the antimicrobial peptides. In fact, previous studies suggest that some SNPs in DEFB1, have been associated with differential risks of HIV-1 infection [26-28]. However, HBD polymorphisms and their relationships to the expression levels at mucosal sites have not been systematically studied as potential modifiers of the risk of HIV infection.…”

Section: Introductionmentioning

confidence: 99%

Increased Levels of Human Beta-Defensins mRNA in Sexually HIV-1 Exposed But Uninfected Individuals

Zapata¹,

Rodrı́guez²,

Weber³

et al. 2008

CHR

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Protection against HIV-1 infection in exposed seronegative (ESN) individuals likely involves natural resistance mechanisms that have not been fully elucidated. Human beta defensins (HBD) are antimicrobial peptides found primarily in mucosae, the main ports of HIV entry. HBD-2 and 3 mRNA are induced by HIV-1 in human oral epithelial cells and exhibit strong anti-HIV-1 activity; in addition, polymorphisms in the DEFB1 gene, which encodes HBD-1, have been associated with resistance/susceptibility to different infections, including HIV-1. Here, we have assessed the association of HBD expression with the ESN phenotype. Peripheral blood and vaginal/endocervical and oral mucosal samples were taken from 47 ESN, 44 seropositive (SP) and 39 healthy controls (HC). HBD-1, 2 and 3 mRNA copy numbers were quantified by real time RT-PCR and A692G/G1654A/A1836G polymorphisms in the DEFB1 gene were detected by restriction fragment length polymorphisms and confirmed by nucleotide sequencing. ESN expressed significantly greater mRNA copy numbers of HBD-2 and 3 in oral mucosa than HC; p=0.0002 and p=0.007, respectively. mRNA copy numbers of HBD-1, 2 and 3 in vaginal/endocervical mucosa from ESN and HC were similar. Homozygosity for the A692G polymorphism was significantly more frequent in ESN (0.39) than in SP (0.05) (p=0.0002). In summary, ESN exhibited enhanced mucosal expression of the innate defense genes HBD-2 and 3; however, additional studies are required to verify these results and the potential association of the A692G polymorphism to the relative resistance of ESN to HIV-1 infection.

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“…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).…”

Section: Discussionmentioning

confidence: 70%

“…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).…”

mentioning

confidence: 99%