title: Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.
abstract: 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.
authors.affiliation: Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Department of Medical Genetics, University of Cambridge, WT/MRC building, Addenbrooke's Hospital, Cambridge, CB2 2XY, UK.
authors.forename: Jeffrey S
authors.initials: JS
authors.lastname: Szeszko
authors.forename: Barry
authors.initials: B
authors.lastname: Healy
authors.forename: Helen
authors.initials: H
authors.lastname: Stevens
authors.forename: Yanina
authors.initials: Y
authors.lastname: Balabanova
authors.forename: Francis
authors.initials: F
authors.lastname: Drobniewski
authors.forename: John A
authors.initials: JA
authors.lastname: Todd
authors.forename: Sergey
authors.initials: S
authors.lastname: Nejentsev
mesh_terms: D000483:Alleles; D005091:Exons; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns; D015778:Minor Histocompatibility Antigens; D009154:Mutation; D009169:Mycobacterium tuberculosis / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics* / Q000502:physiology*; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D012426:Russia; D017422:Sequence Analysis, DNA / Q000379:methods*; D014397:Tuberculosis, Pulmonary / Q000235:genetics* / Q000382:microbiology
chemical_list: D015778:Minor Histocompatibility Antigens; D009687:Nuclear Proteins; C412425:Sp110 protein, human