Interferon-γ receptor-1 gene promoter polymorphisms and susceptibility for brucellosis in Makkah region.

Background: Genetic polymorphisms that affect the production levels of certain cytokines and/or their receptors may determine the risk, severity or protection in some infectious diseases like brucellosis.

Objectives: The aim of this study was to investigate the association of certain known Interferon-γ Receptor-1 (IFN-γ R1) gene promoter polymorphisms and the susceptibility to infection with Brucellosis in Saudi population.

Methods: A cases-control association study was conducted in 69 individuals with human brucellosis and 94 healthy individuals. Genotyping of IFN-γ R1 - 56 C>T and IFN-γ R1 - 611 A>G polymorphism in both patients and healthy controls was done by PCR- restriction enzyme length polymorphisms (PCR-RFLP) and PCR- confronting two primer pairs (PCR-CTPP) methods and were assessed for potential associations with susceptibility for human brucellosis and their mode of penetrance.

Results: Interestingly, we have designed a PCR-CTPP system to be used for genotyping of IFN-γ R1 - 611 A > G polymorphism. The PCR-CTPP is an accurate method for genotyping of SNPs. Moreover, it is time-saving, inexpensive and easy to perform.

Conclusion: Both tested polymorphisms, IFN-γ R1 - 56 C>T and IFN-γ R1 -611 A>G polymorphism had no role in genetic susceptibility to human brucellosis in the study population. The PCR-CTPP can be used for genotyping IFN-γ R1 - 611 A > G polymorphism and other types of mutation.