title: Tumor necrosis factor region polymorphisms are associated with AIDS and with cytomegalovirus retinitis.
abstract: BACKGROUND
  The tumor necrosis factor (TNF) gene is located within the highly polymorphic major histocompatibility complex region, exhibiting the -308 GA promoter region polymorphism and six microsatellites (TNFa-f) spanning the region nearby the TNF locus.
  
  
  OBJECTIVE
  In the present study, we evaluated the frequency of -308 GA and TNFa-e polymorphisms and respective haplotypes (in chromosomal sequence: TNFd-TNFe-308GA-TNFc-TNFa-TNFb), in 222 patients with AIDS, 52 of whom exhibited cytomegalovirus retinitis, and in 202 healthy HIV-negative individuals.
  
  
  METHODS
  TNF microsatellite and single nucleotide polymorphism typings were performed by PCR followed by polyacrylamide gel electrophoresis.
  
  
  RESULTS
  The TNF-308A allele and the 4-3-G-2-7-1 haplotype were associated with susceptibility to AIDS, whereas the TNFb4 allele and the 3-3-G-1-11-4 haplotype were associated with protection against AIDS development. The TNFc2 allele and the 4-1-G-2-2-1 haplotype, which contains the TNFc2 allele, were associated with cytomegalovirus retinitis.
  
  
  CONCLUSIONS
  This study highlights that polymorphic sites spanning the region nearby the TNF locus are associated with AIDS per se and with cytomegalovirus retinitis in AIDS patients.
authors: Division of Clinical Immunology, Department of Internal Medicine, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil. n.deghaide@bol.com.br
authors: Neifi H S
authors: NH
authors: Deghaide
authors: Maria de L V
authors: Mde L
authors: Rodrigues
authors: Erick C
authors: EC
authors: Castelli
authors: Celso T
authors: CT
authors: Mendes-Junior
authors: José F C
authors: JF
authors: Figueiredo
authors: Eduardo A
authors: EA
authors: Donadi
mesh_terms: D017088:AIDS-Related Opportunistic Infections / Q000235:genetics; D000163:Acquired Immunodeficiency Syndrome / Q000235:genetics*; D000328:Adult; D017726:Cytomegalovirus Retinitis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*; D055815:Young Adult
chemical_list: D014409:Tumor Necrosis Factor-alpha