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

Kerrie Tosh; Sarah J Campbell; Katherine Fielding; Jackson Sillah; Boubacar Bah; Per Gustafson; Kebba Manneh; Ida Lisse; Giorgio Sirugo; Steve Bennett; Peter Aaby; Keith P W J McAdam; Oumou Bah-Sow; Christian Lienhardt; Ig Kramnik

doi:10.1073/pnas.0603340103

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

Kerrie Tosh, Sarah J Campbell, Katherine Fielding, Jackson Sillah, Boubacar Bah, Per Gustafson, Kebba Manneh, Ida Lisse, Giorgio Sirugo, Steve Bennett, Peter Aaby, Keith P W J McAdam, Oumou Bah-Sow, Christian Lienhardt, Ig Kramnik

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	10364-10368
Journal	Proceedings of the National Academy of Sciences
Volume	103
Issue number	27
DOIs	https://doi.org/10.1073/pnas.0603340103
Publication status	Published - 2006

Subject classification (UKÄ)

Infectious Medicine

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1073/pnas.0603340103

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Tosh, K., Campbell, S. J., Fielding, K., Sillah, J., Bah, B., Gustafson, P., Manneh, K., Lisse, I., Sirugo, G., Bennett, S., Aaby, P., McAdam, K. P. W. J., Bah-Sow, O., Lienhardt, C., & Kramnik, I. (2006). Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa. Proceedings of the National Academy of Sciences, 103(27), 10364-10368. https://doi.org/10.1073/pnas.0603340103

@article{3a2ea66bc951425496f07bc49ec6639a,

title = "Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa",

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.",

author = "Kerrie Tosh and Campbell, {Sarah J} and Katherine Fielding and Jackson Sillah and Boubacar Bah and Per Gustafson and Kebba Manneh and Ida Lisse and Giorgio Sirugo and Steve Bennett and Peter Aaby and McAdam, {Keith P W J} and Oumou Bah-Sow and Christian Lienhardt and Ig Kramnik",

year = "2006",

doi = "10.1073/pnas.0603340103",

language = "English",

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journal = "Proceedings of the National Academy of Sciences",

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Tosh, K, Campbell, SJ, Fielding, K, Sillah, J, Bah, B, Gustafson, P, Manneh, K, Lisse, I, Sirugo, G, Bennett, S, Aaby, P, McAdam, KPWJ, Bah-Sow, O, Lienhardt, C & Kramnik, I 2006, 'Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa', Proceedings of the National Academy of Sciences, vol. 103, no. 27, pp. 10364-10368. https://doi.org/10.1073/pnas.0603340103

TY - JOUR

T1 - Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa

AU - Tosh, Kerrie

AU - Campbell, Sarah J

AU - Fielding, Katherine

AU - Sillah, Jackson

AU - Bah, Boubacar

AU - Gustafson, Per

AU - Manneh, Kebba

AU - Lisse, Ida

AU - Sirugo, Giorgio

AU - Bennett, Steve

AU - Aaby, Peter

AU - McAdam, Keith P W J

AU - Bah-Sow, Oumou

AU - Lienhardt, Christian

AU - Kramnik, Ig

PY - 2006

Y1 - 2006

N2 - 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.

AB - 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.

U2 - 10.1073/pnas.0603340103

DO - 10.1073/pnas.0603340103

M3 - Article

C2 - 16803959

SN - 1091-6490

VL - 103

SP - 10364

EP - 10368

JO - Proceedings of the National Academy of Sciences

JF - Proceedings of the National Academy of Sciences

IS - 27

ER -

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

Abstract

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UN SDGs

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