No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample.

作者: A A Awomoyi

DOI: 10.1136/THX.2003.013029

关键词:

摘要: BACKGROUND Tuberculosis (TB) is a major global cause of mortality and morbidity, host genetic factors influence disease susceptibility. Interferon-gamma mediates immunity to mycobacteria rare mutations in the interferon-gamma receptor-1 gene (IFNGR1) result increased susceptibility mycobacterial infection, including TB, affected families. The role variation IFNGR1 common diseases such as pulmonary TB outbred populations has not previously been investigated. METHODS The association between was investigated Gambian adult population sample using case-control study design. coding promoter regions were sequenced 32 patients with frequencies six polymorphisms determined PCR based methods 320 smear positive cases matched controls. Haplotypes estimated from genotype data expectation-maximisation algorithm. RESULTS There no variants studied this sample. Three haplotypes identified within population, none which associated TB. CONCLUSIONS These represent an important negative finding suggest that, while implicated Mendelian disease, here do have on population.

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