Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis
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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.
KeywordsSP110 Gene Sst1 Locus SP110 Polymorphism SP110 Region Nuclear Body Protein
We are grateful to all study participants. We thank Prof Larisa Stcheglova and Drs Yuri Korneev, Ivan Fedorin, Natalya Lebedeva and Svetlana Zakharova for their help in patient recruitment and collecting blood samples. We also thank Jason Cooper for the statistical advice. SN is a Diabetes Research and Wellness Foundation Non-Clinical Fellow. Diabetes and Inflammation Laboratory is funded by the Juvenile Diabetes Research Foundation and the Wellcome Trust.
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