Literature DB >> 16803959

Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.

Kerrie Tosh1, Sarah J Campbell1, Katherine Fielding2, Jackson Sillah3, Boubacar Bah4, Per Gustafson5, Kebba Manneh6, Ida Lisse5, Giorgio Sirugo3, Steve Bennett2, Peter Aaby5, Keith P W J McAdam2, Oumou Bah-Sow4, Christian Lienhardt3,7, Igor Kramnik8, Adrian V S Hill9.   

Abstract

The sst1 locus has been identified in a mouse model to control resistance and susceptibility of Mycobacterium tuberculosis infection. Subsequent studies have now identified Ipr1 (intracellular pathogen resistance 1) to be the gene responsible. Ipr1 is encoded within the sst1 locus and is expressed in the tuberculosis lung lesions and macrophages of sst1-resistant, but not sst1-susceptible mice. We have therefore examined the closest human homologue of Ipr1, SP110, for its ability to control susceptibility to M. tuberculosis infection in humans. In a study of families from The Gambia we have identified three polymorphisms that are associated with disease. On examination of additional families from Guinea-Bissau and the Republic of Guinea, two of these associations were independently replicated. These variants are in strong linkage disequilibrium with each other and lie within a 31-kb block of low haplotypic diversity, suggesting that a polymorphism within this region has a role in genetic susceptibility to tuberculosis in humans.

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Year:  2006        PMID: 16803959      PMCID: PMC1502463          DOI: 10.1073/pnas.0603340103

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  20 in total

1.  A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission.

Authors:  D Clayton
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

2.  GOLD--graphical overview of linkage disequilibrium.

Authors:  G R Abecasis; W O Cookson
Journal:  Bioinformatics       Date:  2000-02       Impact factor: 6.937

3.  The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis.

Authors:  N Maniatis; A Collins; C F Xu; L C McCarthy; D R Hewett; W Tapper; S Ennis; X Ke; N E Morton
Journal:  Proc Natl Acad Sci U S A       Date:  2002-02-12       Impact factor: 11.205

4.  Automated genotyping using the DNA MassArray technology.

Authors:  Christian Jurinke; Dirk van den Boom; Charles R Cantor; Hubert Köster
Journal:  Methods Mol Biol       Date:  2002

5.  Parametric and nonparametric linkage analysis: a unified multipoint approach.

Authors:  L Kruglyak; M J Daly; M P Reeve-Daly; E S Lander
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

6.  Faster multipoint linkage analysis using Fourier transforms.

Authors:  L Kruglyak; E S Lander
Journal:  J Comput Biol       Date:  1998       Impact factor: 1.479

7.  Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans.

Authors:  R Bellamy; C Ruwende; T Corrah; K P McAdam; H C Whittle; A V Hill
Journal:  N Engl J Med       Date:  1998-03-05       Impact factor: 91.245

8.  Genetic control of resistance to experimental infection with virulent Mycobacterium tuberculosis.

Authors:  I Kramnik; W F Dietrich; P Demant; B R Bloom
Journal:  Proc Natl Acad Sci U S A       Date:  2000-07-18       Impact factor: 11.205

9.  Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator.

Authors:  D B Bloch; A Nakajima; T Gulick; J D Chiche; D Orth; S M de La Monte; K D Bloch
Journal:  Mol Cell Biol       Date:  2000-08       Impact factor: 4.272

Review 10.  Genetic dissection of immunity to mycobacteria: the human model.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  Annu Rev Immunol       Date:  2001-10-04       Impact factor: 28.527

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  36 in total

Review 1.  Forward genetic dissection of innate response to infection in inbred mouse strains: selected success stories.

Authors:  S Gruenheid; P Gros
Journal:  Clin Exp Immunol       Date:  2010-12       Impact factor: 4.330

2.  SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population.

Authors:  C Babb; E Hanekom Keet; P D van Helden; E G Hoal
Journal:  Hum Genet       Date:  2007-02-08       Impact factor: 4.132

3.  Tumor necrosis factor signaling mediates resistance to mycobacteria by inhibiting bacterial growth and macrophage death.

Authors:  Hilary Clay; Hannah E Volkman; Lalita Ramakrishnan
Journal:  Immunity       Date:  2008-08-15       Impact factor: 31.745

Review 4.  Insights into early mycobacterial pathogenesis from the zebrafish.

Authors:  Robin Lesley; Lalita Ramakrishnan
Journal:  Curr Opin Microbiol       Date:  2008-06-19       Impact factor: 7.934

5.  Tuberculosis-resistant transgenic cattle.

Authors:  Christopher K Tuggle; W Ray Waters
Journal:  Proc Natl Acad Sci U S A       Date:  2015-03-17       Impact factor: 11.205

6.  Identification of genetic associations of SP110/MYBBP1A/RELA with pulmonary tuberculosis in the Chinese Han population.

Authors:  Lei Cai; Shao-Li Deng; Li Liang; Hui Pan; Jia Zhou; Mei-Yan Wang; Jun Yue; Chun-Ling Wan; Guang He; Lin He
Journal:  Hum Genet       Date:  2012-11-06       Impact factor: 4.132

7.  No Strong Relationship Between Components of the Lectin Pathway of Complement and Susceptibility to Pulmonary Tuberculosis.

Authors:  James D Chalmers; Misao Matsushita; David C Kilpatrick; Adam T Hill
Journal:  Inflammation       Date:  2015-08       Impact factor: 4.092

Review 8.  Genetics-squared: combining host and pathogen genetics in the analysis of innate immunity and bacterial virulence.

Authors:  Jenny Persson; Russell E Vance
Journal:  Immunogenetics       Date:  2007-09-14       Impact factor: 2.846

9.  Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.

Authors:  Alison A Motsinger-Reif; Paulo R Z Antas; Noffisat O Oki; Shawn Levy; Steven M Holland; Timothy R Sterling
Journal:  BMC Med Genet       Date:  2010-03-02       Impact factor: 2.103

10.  In vivo expression of innate immunity markers in patients with Mycobacterium tuberculosis infection.

Authors:  Pantelis Constantoulakis; Eftihia Filiou; Nikoletta Rovina; George Chras; Aggeliki Hamhougia; Simona Karabela; Adamandia Sotiriou; Charis Roussos; Nikolaos Poulakis
Journal:  BMC Infect Dis       Date:  2010-08-18       Impact factor: 3.090

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