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

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 i...

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Main Authors: Tosh, K, Campbell, S, Fielding, K, Sillah, J, Bah, B, Gustafson, P, Manneh, K, Lisse, I, Sirugo, G, Bennett, S, Aaby, P, McAdam, K, Bah-Sow, O, Lienhardt, C, Kramnik, I, Hill, A
Format: Journal article
Language:English
Published: 2006
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author Tosh, K
Campbell, S
Fielding, K
Sillah, J
Bah, B
Gustafson, P
Manneh, K
Lisse, I
Sirugo, G
Bennett, S
Aaby, P
McAdam, K
Bah-Sow, O
Lienhardt, C
Kramnik, I
Hill, A
author_facet Tosh, K
Campbell, S
Fielding, K
Sillah, J
Bah, B
Gustafson, P
Manneh, K
Lisse, I
Sirugo, G
Bennett, S
Aaby, P
McAdam, K
Bah-Sow, O
Lienhardt, C
Kramnik, I
Hill, A
author_sort Tosh, K
collection OXFORD
description 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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spelling oxford-uuid:d0dc38b4-55a3-406b-af3c-211086eaf0be2022-03-27T07:53:02ZVariants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:d0dc38b4-55a3-406b-af3c-211086eaf0beEnglishSymplectic Elements at Oxford2006Tosh, KCampbell, SFielding, KSillah, JBah, BGustafson, PManneh, KLisse, ISirugo, GBennett, SAaby, PMcAdam, KBah-Sow, OLienhardt, CKramnik, IHill, AThe 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.
spellingShingle Tosh, K
Campbell, S
Fielding, K
Sillah, J
Bah, B
Gustafson, P
Manneh, K
Lisse, I
Sirugo, G
Bennett, S
Aaby, P
McAdam, K
Bah-Sow, O
Lienhardt, C
Kramnik, I
Hill, A
Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.
title Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.
title_full Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.
title_fullStr Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.
title_full_unstemmed Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.
title_short Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.
title_sort variants in the sp110 gene are associated with genetic susceptibility to tuberculosis in west africa
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