Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis

Jeffrey S Szeszko, Barry Healy, Helen Stevens, Yanina Balabanova, Francis Drobniewski, John A Todd, Sergey Nejentsev

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30 Citations (Scopus)


Recently, the Intracellular pathogen resistance 1 (Ipr1) gene was shown to control susceptibility to Mycobacterium tuberculosis in mice. We examined whether common sequence variants of its human orthologue, the SP110 gene, are associated with susceptibility to tuberculosis in a human population. We resequenced SP110 exons in 96 individuals and identified new polymorphisms. Then, we combined our sequence and HapMap data for 83 distinct polymorphisms and selected tags that capture information for all common variants in the 100 kb region around SP110. We genotyped 29 single nucleotide polymorphisms including seven amino-acid changing variants in 1,912 HIV-negative culture-confirmed adult pulmonary tuberculosis patients and 2,104 adult healthy controls from Russia and found no evidence of association. Our results indicate that common polymorphisms of the SP110 gene have no major effect on susceptibility to tuberculosis in this population.

Original languageEnglish
Pages (from-to)155-60
Number of pages6
JournalHuman genetics
Issue number2
Publication statusPublished - Apr 2007
Externally publishedYes


  • Alleles
  • Exons
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Introns
  • Minor Histocompatibility Antigens
  • Mutation
  • Mycobacterium tuberculosis/metabolism
  • Nuclear Proteins/genetics
  • Odds Ratio
  • Polymorphism, Genetic
  • Russia
  • Sequence Analysis, DNA/methods
  • Tuberculosis, Pulmonary/genetics

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