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.
UR - https://www.scopus.com/pages/publications/33745897329
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 -
