title: A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
authors.affiliation: Medical Genetic Service, Institute for Maternal and Child Health-IRCCS Burlo Garofolo-Trieste, Italy. pontillo@burlo.trieste.it
authors.forename: Alessandra
authors.initials: A
authors.lastname: Pontillo
authors.forename: Lucas A
authors.initials: LA
authors.lastname: Brandão
authors.forename: Rafael L
authors.initials: RL
authors.lastname: Guimarães
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Athanasakis
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000328:Adult; D001938:Brazil / Q000453:epidemiology; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D015658:HIV Infections / Q000453:epidemiology / Q000235:genetics*; D015497:HIV-1; D006801:Humans; D007223:Infant; D018445:Infectious Disease Transmission, Vertical; D008297:Male; D008875:Middle Aged; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human