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    
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.
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
Related Documents :
16877387 - Association of the y402h polymorphism in complement factor h gene and neovascular age-r...
19321847 - A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic...
12824947 - Paraoxonase1 polymorphism leu-met55 is associated with cerebral infarction in japanese ...
15695537 - Association of polymorphism in the transforming growth factor {beta}1 gene with disease...
15036597 - An association study of the cholesteryl ester transfer protein taqi b polymorphism with...
9391727 - Variant of intron 22 inversions in the factor viii gene in severe hemophilia a.
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    
MRC Laboratories, Fajara, The Gambia.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Cohort Studies
Genetic Predisposition to Disease
Polymerase Chain Reaction / methods
Polymorphism, Genetic / genetics*
Receptors, Interferon / genetics*
Tuberculosis, Pulmonary / genetics*
Reg. No./Substance:
0/Receptors, Interferon; 0/interferon gamma receptor

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Transmission of tuberculosis from smear negative patients: a molecular epidemiology study.
Next Document:  Parental smoking in childhood and adult obstructive lung disease: results from the European Communit...