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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 publication

DOI

10.1007/s00439-006-0293-z

Type

Journal article

Journal

Hum Genet

Publication Date

04/2007

Volume

121

Pages

155 - 160

Keywords

Alleles, Exons, Genetic Predisposition to Disease, Genotype, Humans, Introns, Mutation, Mycobacterium tuberculosis, Nuclear Proteins, Odds Ratio, Polymorphism, Genetic, Russia, Sequence Analysis, DNA, Tuberculosis, Pulmonary