TY - JOUR T1 - A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection. JF - J Acquir Immune Defic Syndr Y1 - 2010 A1 - Pontillo, Alessandra A1 - Brandão, Lucas A A1 - Guimarães, Rafael L A1 - Segat, Ludovica A1 - Athanasakis, Emmanouil A1 - Crovella, Sergio KW - Adult KW - Brazil KW - Carrier Proteins KW - Case-Control Studies KW - Child KW - Child, Preschool KW - Female KW - Genetic Predisposition to Disease KW - Genotype KW - HIV Infections KW - HIV-1 KW - Humans KW - Infant KW - Infectious Disease Transmission, Vertical KW - Male KW - Middle Aged KW - Polymorphism, Single Nucleotide KW - Pregnancy KW - Young Adult AB -

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.

VL - 54 IS - 3 U1 - http://www.ncbi.nlm.nih.gov/pubmed/20502346?dopt=Abstract ER -