File(s) not publicly available
No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample
journal contribution
posted on 2023-06-08, 17:10 authored by 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, Melanie NewportMelanie NewportBACKGROUND 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.
History
Publication status
- Published
Journal
ThoraxISSN
0040-6376Publisher
BMJ Publishing GroupExternal DOI
Issue
4Volume
59Page range
291-294Department affiliated with
- Primary Care and Public Health Publications
Full text available
- No
Peer reviewed?
- Yes
Legacy Posted Date
2014-05-09Usage metrics
Categories
No categories selectedKeywords
Licence
Exports
RefWorks
BibTeX
Ref. manager
Endnote
DataCite
NLM
DC