| Literature DB >> 16803959 |
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.Entities:
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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