Document Detail


No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample.
MedLine Citation:
PMID:  15047947     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Tuberculosis (TB) is a major global cause of mortality and morbidity, and host genetic factors influence disease susceptibility. Interferon-gamma mediates immunity to mycobacteria and rare mutations in the interferon-gamma receptor-1 gene (IFNGR1) result in increased susceptibility to mycobacterial infection, including TB, in affected families. The role of genetic variation in IFNGR1 in susceptibility to common mycobacterial diseases such as pulmonary TB in outbred populations has not previously been investigated. METHODS: The association between IFNGR1 and susceptibility to pulmonary TB was investigated in a Gambian adult population sample using a case-control study design. The coding and promoter regions of IFNGR1 were sequenced in 32 patients with pulmonary TB, and the frequencies of six common IFNGR1 polymorphisms were determined using PCR based methods in 320 smear positive TB cases and 320 matched controls. Haplotypes were estimated from the genotype data using the expectation-maximisation algorithm. RESULTS: There was no association between the IFNGR1 variants studied and TB in this Gambian population sample. Three common haplotypes were identified within the study population, none of which was associated with TB. CONCLUSIONS: These data represent an important negative finding and suggest that, while IFNGR1 is implicated in rare Mendelian susceptibility to mycobacterial disease, the common variants studied here do not have a major influence on susceptibility to pulmonary TB in The Gambian population.
Authors:
A A Awomoyi; S Nejentsev; A Richardson; J Hull; O Koch; M Podinovskaia; J A Todd; K P W J McAdam; J M Blackwell; D Kwiatkowski; M J Newport
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Thorax     Volume:  59     ISSN:  0040-6376     ISO Abbreviation:  Thorax     Publication Date:  2004 Apr 
Date Detail:
Created Date:  2004-03-29     Completed Date:  2004-05-05     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0417353     Medline TA:  Thorax     Country:  England    
Other Details:
Languages:  eng     Pagination:  291-4     Citation Subset:  IM    
Affiliation:
MRC Laboratories, Fajara, The Gambia.
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MeSH Terms
Descriptor/Qualifier:
Cohort Studies
Gambia
Genetic Predisposition to Disease
Humans
Male
Polymerase Chain Reaction / methods
Polymorphism, Genetic / genetics*
Receptors, Interferon / genetics*
Tuberculosis, Pulmonary / genetics*
Chemical
Reg. No./Substance:
0/Receptors, Interferon; 0/interferon gamma receptor
Comments/Corrections

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