%0 Journal Article %J J Acquir Immune Defic Syndr %D 2010 %T A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection. %A Pontillo, Alessandra %A Brandão, Lucas A %A Guimarães, Rafael L %A Segat, Ludovica %A Athanasakis, Emmanouil %A Crovella, Sergio %K Adult %K Brazil %K Carrier Proteins %K Case-Control Studies %K Child %K Child, Preschool %K Female %K Genetic Predisposition to Disease %K Genotype %K HIV Infections %K HIV-1 %K Humans %K Infant %K Infectious Disease Transmission, Vertical %K Male %K Middle Aged %K Polymorphism, Single Nucleotide %K Pregnancy %K Young Adult %X

OBJECTIVES: Innate immunity genes polymorphisms are known to be involved in the multifactorial susceptibility to HIV-1 infection. Recently it has been hypothesized that inflammasomes could play an important role in the host response to viruses. The aim of our study is to verify if single-nucleotide polymorphisms (SNPs) in genes encoding for NALPs-innate immune receptors that form molecular complexes leading to the production of IL-1beta and the activation of immune response-could influence the individual susceptibility to HIV-1.

DESIGN: We performed an association study analyzing 2 NLRP1 and NLRP3 SNPs in HIV-1 vertically infected Brazilian children (n = 135), HIV-1-infected Brazilain adults (n = 192) and HIV-1-positive Italian seropositive subjects (n = 192).

RESULTS: The 3'UTR NLRP3 rs10754558 SNP was associated with HIV-1 infection in all the studied groups. The frequency of rs10754558 G allele was differently distributed within seropositive subjects (HIV+) and controls, and in particular the GG genotype was less frequent in HIV+.

CONCLUSIONS: susceptibility to HIV-1 infection is associated with a 3'UTR NLRP3 polymorphism. This is the first report linking SNPs in the NALPs with HIV-1 infection, and further epidemiologic and functional studies are needed to deeper investigate the role of inflammasome in the susceptibility to HIV-1 infection.

%B J Acquir Immune Defic Syndr %V 54 %P 236-40 %8 2010 Jul %G eng %N 3 %1 http://www.ncbi.nlm.nih.gov/pubmed/20502346?dopt=Abstract %R 10.1097/QAI.0b013e3181dd17d4 %0 Journal Article %J Int J Dermatol %D 2010 %T Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco). %A Segat, Ludovica %A Guimarães, Rafael L %A Brandão, Lucas A C %A Rocha, Cintia R C %A Zanin, Valentina %A Trevisiol, Chiara %A de Lima Filho, José Luiz %A Crovella, Sergio %K Adolescent %K beta-Defensins %K Brazil %K Child %K Child, Preschool %K Dermatitis, Atopic %K Female %K Gene Frequency %K Genetic Predisposition to Disease %K Haplotypes %K Humans %K Infant %K Male %K Polymorphism, Single Nucleotide %K Risk Factors %X

BACKGROUND: Atopic dermatitis (AD) is a common inflammatory skin disease resulting from the interplay between environmental, immunological and genetic factors. In our study, we investigated the role of three single nucleotide polymorphisms (SNPs) at 5'-UTR of DEFB1 gene, encoding for the human beta defensin-1, on the susceptibility to develop AD in a group of Brazilian children and adolescents.

METHODS: Three SNPs, -20 G/A (rs11362), -44 C/G (rs1800972), and -52 G/A (rs1799946) at 5'-UTR of DEFB1 gene were genotyped in two groups of children and adolescents, one affected by AD (96 subjects), the other healthy (191 individuals), from northeast Brazil.

RESULTS: -44 C/G frequencies were comparable between the two groups. The -20 GG genotype was more frequent in AD subjects than in healthy controls; the -52 GG, conversely, was more frequent in healthy controls than in AD. However, both these differences did not reach statistical significance. Also, association between SNPs and AD severity has been shown. The analysis of DEFB1 haplotypes did not highlight any association of the three SNPs with AD development or disease severity.

CONCLUSIONS: Our results seem to exclude a role for the -44 C/G DEFB1 SNPs on the pathogenesis and severity of AD, while for the -20 C/G and -52 G/A, even if not statistically significant, we evidenced a slight trend for susceptibility (-20 GG) and protection (-52 GG) for the development of AD. However, as controversial findings have been reported in the literature, the role of DEFB1 in the development of AD and in the severity of the phenotype deserves further investigation.

%B Int J Dermatol %V 49 %P 653-7 %8 2010 Jun %G eng %N 6 %1 http://www.ncbi.nlm.nih.gov/pubmed/20618470?dopt=Abstract %R 10.1111/j.1365-4632.2009.04343.x